ETAS_MCQ_10 manifestations of systemic diseases1
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ETAS_MCQ_10 manifestations of systemic diseases1 ETAS_MCQ_10 manifestations of systemic diseases1 Document Transcript

  • Manifestations of systemic diseases1) Bony abnormalities seen in patients with the condition in the figure include all of the followingexcept:A. spina bifidaB. pseudoarthrosisC. lordosisD. monoarticular arthropathy Correct ChoiceE. KyphosisThis picture demonstrates a café au lait macule and kyphoscoliosis in a patient withNeurofibromatosis type 1 (NF1). The bony abnormalities seen in these patients include:kyphoscoliosis, pseudoarthrosis, lordosis, and spina bifida2) The organism that causes this infection shown in the figure is:A. C. albicans Correct ChoiceB. P. aeruginoasC. T. tonsuranD. T. verrucosumE. C. immitisThe organism that causes erosio interdigitalis blastomycetica is candida albicans.3) Erythema gyratum repens is known to be associated with all of the following malignanciesexcept:A. Bladder carcinomaB. Cervical carcinomaC. Breast carcinomaD. Lung carcinomaE. Gastric carcinomaCorrect ChoiceErythema gyratum repens presents more commonly in men than in women, and appears clinicallyas concentric erythematous rings with trailing scale on the trunk and proximal extremities. The skinis described as having a "wood grain" appearance. Skin findings often precede the diagnosis of anassociated malignancy. Lung carcinoma is the most commonly associated malignancy, but it hasalso been reported in association with breast, cervical, bowel, and bladder cancer.4) Regarding eruptive xanthomas, which of the following is true?A. They occur in the setting of familial hyperlipidemia types I, IV, and VCorrect ChoiceB. They occur in the setting of familial hyperlipidemia types II and IIIC. They are most commonly found on the eyelidsD. They are not related to alcohol consumptionE. Triglyceride levels are usually below 500mg/dl 1
  • Eruptive xanthomas generally occur in patients with triglyceride levels of 2000mg/dl or greater.Associations include poorly-controlled diabetes mellitus, retinoids, estrogens, excessive alcoholconsumption (leading to pancreatitis) and familial hyperlipidemias types I, IV and V. Clinically, theyappear as crops of firm, non-tender yellowish papules with an erythematous border. Mostcommonly, they occur on the extensor surfaces, but they can be diffuse. A reduction in triglyceridesand/or tight glucose control usually results in a reduction in the number of lesions5) Paraneoplastic pemphigus is associated with all of the following underlying malignancies EXCEPT:A. Non-Hodgkins lymphomaB. Castlemans tumorC. Chronic lymphocytic leukemiaD. ThymomaE. Lung carcinomaCorrect ChoiceParaneoplastic pemphigus has been associated with Non-Hodgkins lymphoma, chronic lymphocyticleukemia, thymoma, Castlemans tumor, and sarcoma. It has not been associated with lungcarcinoma. Treatment includes management of the underlying malignancy, as well as prednisone orother immunosuppressive agents6) What is the most common malignancy associated with this condition at this location?A. Gastric cancerCorrect ChoiceB. MelanomaC. Breast cancerD. Thyroid cancerE. Pancreatic cancerMalignant acanthosis nigricans usually presents with sudden onset and is rapidly progressive. It maybe associated with diffuse keratodermas of the palms and soles or eruptive seborrheic keratoses7) The most common location of the lesions in nephrogenic fibrosing dermopathy is:A. ChestB. Palms and solesC. FaceD. BackE. Lower extremities Correct ChoiceThe most common location for lesions of nephrogenic fibrosis dermopathy is the lower extremities8) A 55 year old patient presents with new onset brown macules on arms, legs, face and palms.She gives a 3 month history of diarrhea, abdominal cramps, weight loss and protein-losingenteropathy. The most likely diagnosis is:A. Ulcerative colitisB. Cowden diseaseC. Cronkhite-Canada syndromeCorrect Choice 2
  • D. Plummer-Vinson syndromeE. Peutz-Jeghers syndromeCronkhite-Canada is an aquired disease characterized by the development of polyps throughout theGI tract. Patients can present with hyperpigmented macules as well as the sequella of GImalabsorption. The malignant transformation of polyps can occur9) Which of the following is not a feature of Cronkhite-Canada syndrome?A. Hyperpigmented maculesB. DiarrheaC. AlopeciaD. Lung carcinomaCorrect ChoiceE. Dystrophic nailsCronkhite-Canada syndrome is a rare, non-familial disease characterized by patchy alopecia, nailchanges or loss, lentigines, inflammatory polyps, abdominal pain, and a protein losing enteropathy10) A patient with congenital hypertrophy of retinal epithelium is most likely to have:A. Adenomatous polyposisCorrect ChoiceB. Tram-track calcifications on head radiographC. Peg-shaped teethD. PheochromocytomaE. An autosomal dominant mutation in the MSH2 geneCongenital hyperpigmentation of the retinal pigment (CHRPE) is an early feature of Gardnersyndrome (GS). It is found in approximately 60% of patients with GS. GS is an autosomal dominantdisorder characterized by precancerous intestinal polyposis and subsequent adenocarcinoma of thegastrointestinal tract. Cutaneous manifestations include epidermoid cysts, osteomas, desmoids andfibrous tumors. A mutation in the adenomatous polyposis coli (APC) gene, a tumor suppressor gene,is responsible for the disease. Most patients develop colon carcinoma by the 2nd or 3rd decade.Therefore, prophylactic colectomy is warranted. Mutations in the MSH2 gene are found in Muir-Torresyndrome. Pheochromocytomas are found in multiple endocrine neoplasia (MEN) syndromes IIa andIIb. Tram track calcifications are found in Sturge-Weber syndrome. Peg-shaped teeth are found inmultiple syndromes including ectodermal dysplasia11) Which of the following may be associated with Graves’ disease?A. Geographic tongueB. MadarosisC. Dermatitis herpetiformisCorrect ChoiceD. HypohidrosisE. Thick, pale lipsGraves’ disease is a thyrotoxic condition that results from the production of thyroid-stimulatingimmunoglobulins (TSI) by stimulated B lymphocytes. The TSI bind to the thyroid-stimulatinghormone (TSH) receptor and mimic TSH thereby stimulating thyroid growth and thyroid hormoneoverproduction. Signs and symptoms of Graves’ disease include goiter, tachycardia, exophthalmos,tremor, sweating, palpitations, smooth moist skin, diarrhea, sleeplessness, irritability, and weightloss. Autoimmune cutaneous disease may also be associated with Graves’ disease including vitiligo, 3 View slide
  • dermatitis herpetiformis, herpes gestationis, and pemphigus vulgaris. Cutaneous manifestations ofhypothyroidism include xerosis, hyperhidrosis, yellowish hue, myxedema, and purpura. The hairmay be dry, brittle and coarse; alopecia may be diffuse and/or involve the lateral eyebrow(madarosis).12) Which of the following cutaneous findings are characteristic for Vohwinkles Syndrome?A. Transient erythroderma at birth, palmoplantar keratoderma, follicular hyperkeratosis, scarringalopecia, dystrophic nailsB. Oral papillomatosis, palmoplantar keratoses, acral keratoses, lipomas, hemangiomas, scrotaltongueC. Honeycombed diffuse palmoplantar keratoderma, pseudoainhum with autoamputation, star-shaped keratosis over knuckles, nail dystrophy, and alopeciaCorrect ChoiceD. Rapidly progressive alopecia of all hair-bearing areas, onycholysis, onychoschizia, onychomadesis,hyperpigmented macules on extremitiesE. Dense depigmented lusterless hair, pili torti, doughy skin, diffuse cutaneous hypopigmentationVohwinkles Syndrome is an autosomal dominant disorder caused by a mutation of the GJB2 genewhich encodes Connexin 26. Clinical features include deafness, as well as the cutaneous findingsdescribed in choice A13) In patients with mixed cryoglobulinema associated with hepatitis C, the most likely laboratoryabnormality is:A. Decreased cryoglobulinsB. Elevated rheumatoid factor Correct ChoiceC. + p-ANCAD. + ANAE. Elevated hematocritIn patients with mixed cryoglobulinemia, the most likely laboratory abnormality among the optionslisted is an elevated rheumatoid factor14) cryoglobulinemia are true EXCEPT:A. Type I is composed of monoclonal IgG and polyclonal IgMCorrect ChoiceB. Type II is composed of polyclonal IgG and monoclonal IgMC. 80% of cases of mixed cryoglobulinemia are associated with Hepatitis C infectionD. Type III is composed of polyclonal IgG and polyclonal IgME. None of these answers are correct (all statements are true)Type I is composed of monoclonal immunoglobulins15) Which of the following statements regarding porphyrias is TRUE?A. Delta aminolevulenic acid is the only oxidized porphyrinCorrect ChoiceB. Acute intermittent porphyria is the most common form of porphyriaC. Plasma fluoresces at 410 nm in patients with variegate porphyria 4 View slide
  • D. Griseofulvin is safe for those with variegate porphyriaE. Elevated uroporphyrins are found in the red blood cells of hepatoerythropoietic porphyriaAcute intermittent porphyria (AIP) is the second most common porphyria and is caused by adeficiency in porphobilinogen (PBG) deaminase, which is located in the cytosol. Patients suffer fromcolicky pain, paralysis and psychiatric disorders. There are no specific skin manifestations. PBG andaminolevulenic acid (ALA) are elevated in the urine. Attacks are precipitated by medications such asbarbiturates, estrogen, griseofulvin, and sulfonamides as well as starvation, fever and infection.Treatment includes glucose loading and hematin infusion.Congenital erythropoietic porphyria (CEP) or Günter’s disease is caused by a defect inuroporphyrinogen III synthase, which is found in the cytosol. Patients are extremely photosensitiveand erythema, blistering and scarring result. Patients present with red urine early in life along withhypertrichosis and red-stained teeth that fluoresce. Uroporphyrins (URO) are much high thancoproporphyrins (COPRO) in the urine. URO is found in the red blood cells (rbcs) and COPRO isfound in the stool. The rbcs display stable fluorescence.Porphyria cutanea tarda (PCT) is the most common porphyria and is caused by a deficiency (usuallysporadic) in uroporphyrinogen decarboxylase, which is found in the cytosol. Patients present withphotosensitivity and blistering of sun-exposed areas, especially the dorsal hands. Hypertrichosis andsclerodermoid changes may occur as well. Liver disease (hepatitis C or alcoholic cirrhosis) is oftenpresent and hemochromatosis may be associated. Urine may fluoresce pink or coral-red withWood’s lamp. URO>COPRO in the urine and low levels of COPRO are found in the stool. Treatmentsinclude phlebotomy, antimalarials, and therapy for liver disease if appropriate.Hereditary coproporphyria (HCP) is caused by a deficiency in coproporphyrinogen oxidase, which isfound in the mitochondria. One-third of patients are photosensitive, and patients suffergastrointestinal and neurological symptoms similar to AIP. Urine COPRO is elevated only withattacks, and COPRO is present in the stool.Variegate porphyria is the result of decreased activity of protoporphyrinogen oxidase, which ispresent in the mitochondria. It combines the skin lesions of PCT with the systemic manifestations ofAIP. Urine COPRO:URO is 1:1 or COPRO> URO to distinguish it from PCT, and PROTO is found in thestool. The plasma fluoresces at 626nm. Precipitators and treatments are similar to AIP.Erythropoietic protoporphyria (EPP) is caused by ferrochetalase deficiency, which is present in themitochondria. Patients experience immediate burning of the skin with sun exposure. ProtoporphyrinIX, the only oxidized porphyrin in the heme pathway and absorbs in the Soret band (400-410nm).Patients have erythematous plaques in a photo-distribution. Urine porphyrins are normal. PROTO isfound in the rbcs and the stool. Excessive porphyrins deposited in the liver lead to gallstones andcirrhosis. Beta carotene may helpful.Hepatoerythropoietic porphyria (HEP) is essentially a homozygous form of PCT, with deficiency inuroporphyrinogen decarboxylase. It is clinically similar to CEP with red urine and hypertrichosis,vesicles and scarring of sun-exposed skin. URO is present in the urine and COPRO in the stool.PROTO is present in rbcs which distinguishes it from CEP, which was URO in rbcs16) A young African American patient presents with anemia and spontaneously appearing leg ulcersover both lateral and medial malleoli. The most likely diagnosis is:A. TraumaB. Atherosclerotic diseaseC. Sickle cell anemiaCorrect ChoiceD. Factitial dermatitisE. Lupus erythematosusSickle cell anemia should be considered most likely in any young African American with spontaneousleg ulcers. The ulcers are more common in people with severe anemia. 5
  • 17) The expected histology of a biopsy take from the lesion shown in the image wouldA. Schumann bodiesB. Collagen degeneration Correct ChoiceC. Granulomatous infiltrate localized to the papillary dermisD. Increased mucinE. Elastic fiber degenerationThe histologic findings of necrobiosis lipodica diabeticorum are: dermal granulomatous inflammationin a horizontal pattern, collagen degeneration, and normal or atrophic epidermis18) Which of the following is NOT true regarding Cushings Syndrome?A. Corticotropin is suppressed with the administration of dexamethasoneCorrect ChoiceB. It may be associated with an underlying oat cell lung carcinomaC. Urine cortisol levels are elevatedD. It may be associated with hypertension and hypokalemiaE. May present with hyperpigmentation and facial plethoraIn Cushings Syndrome, corticotropin is NOT suppressed with the administration of dexamethasone.The other statements are true19) Hepatitis C infection is associated with:A. Gianotti-Crosti syndromeB. Kapsi’s sarcomaC. Mixed cryoglobulinemiaCorrect ChoiceD. Oral hairy leukoplakiaE. Pityriasis roseaCutaneous manifestation associated with hepatitis C include necrolytic acral erythema, porphyriacutanea tarda, lichen planus, polyarteritis nodosa and mixed cryoglobulinemia. Mixedcryoglobulinemias is a systemic vasculitis with variable manifestations including palpable purpura,arthralgias and weakness20) Which of the following is true regarding piebaldism?A. It is caused by a mutation in the GJB2 geneB. It is caused by a mutation in the proto-oncogene c-KITCorrect ChoiceC. It is caused by a defect in a protein subunit of a kinase that activates NFkappaBD. It is caused by defective metabolism of phytanic acidE. It is caused by a deficiency of fatty aldehyde dehydrogenasePiebaldism is caused by an autosomal dominant mutation of the proto-oncogene c-KIT whichencodes tyrosine a tyrosine kinase receptor on melanocytes, preventing activation by steel factor 6
  • 21) An end stage AIDS patient with tuberulosis presents with diffuse hyperpigmentationof both sun-exposed and unexposed areas. The palmer creases are markedlyhyperpigmented and the patient is very ill. The most likely diagnosis is:A. Kaposis sarcomaB. ArgyriaC. LymphomaD. Addison diseaseCorrect ChoiceE. Tinea versicolorAddison disease is caused by destruction of the adrenal glands by any cause.Tuberculosis used to be the primary cause, now the most common cause is auto-immunedestruction. Other causes of adrenal gland destruction include; coccidiomycosis,cryptococcosis, histoplasmosis, sarcoidosis, metastatic tumor and amyloidosis.22) A complication seen in women of childbearing age with the condition in the figure is:A. Pulmonary emboliB. Lisch nodulesC. Gastrointestinal bleedingD. Pulmonary lymphangioleiomyoma Correct ChoiceE. Atrial septal defectThis picture demonstrates a shagreen patch in a patient with Tuberous sclerosis. A complicationoccurring in female patients of child-bearing age is pulmonary lymphangioleiomyoma23) The histopathologic findings shown in the image is seen in patients with:A. Cowdens Syndrome Correct ChoiceB. Proteus syndromeC. Bannayan-Riley-RuvalcabaD. Rombo syndromeE. Birt-Hogg-Dube SyndromeThis slide shows lobular formations extending from the epidermis with palisading keratinocytes atthe periphery of the lobules. These features are consistent with trichelemmoma, a characteristicskin finding of Cowdens disease24) A representative papule on the dorsal distal finger with a coral bead appearance was biopsied.The pathology of the lesion demonstrated oncocytic histiocytes with a ground glass appearance, thediagnosis is:A. Rheumatoid nodulesB. Granuloma annulareC. Multicentric reticulohistiocytosis Correct ChoiceD. Tendinous xanthomasE. Erythema elevatum diutinum 7
  • This picture and the histologic description are consistent with Multicentric reticulohistiocytosis.Multicentric reticulohistiocytosis is associated with a symmetric polyarthritis as well as malignancy.Reported malignancies include melanoma, sarcoma, leukemia, lymphoma, and carcinomas of thebreast, colon, bronchus, cervix, stomach, and ovaries25) Which of the following is NOT associated with hepatitis C disease?A. Mixed cryoglobulinemiaB. Single-stranded DNA viridaeCorrect ChoiceC. Leukocytoclastic vasculitisD. Uroporphyrinogen decarboxylase deficiencyE. Single-stranded RNA viridaeHepatitis C virus (HCV) is a single-stranded RNA virus that is a member of the flaviviridae family.Approximately 20-30% of patients develop symptoms with acute infection and 70% will progress tochronic disease. Porphyria cutanea tarda or PCT (uroporphyrinogen decarboxylase deficiency) isassociated with HCV in a substantial percentage of patients; in one study, antibodies to HCV werefound in 82% of PCT patients. Up to 80% of mixed cryoglobulinemia (MC) cases are associated withHCV. The incidence of lichen planus in HCV patients varies from region to region (0.1-35%). Thehistopathology of MC lesions is leukocytoclastic vasculitis. Another relatively common association ispolyarteritis nodosa (PAN) which is also related to hepatitis B infection. Finally, generalized pruritisis a common complaint of HCV patients26) All of the following are true regarding incontinentia pigmenti EXCEPT:A. It is an X-linked recessive disorderCorrect ChoiceB. Inflammation and blistering may be followed by hyperkeratotic, verrucous lesionsC. It is caused by a mutation in the NEMO geneD. It is associated with cerebellar ataxiaE. It is associated with coloboma and retinal detachmentIncontinentia pigmenti is an X-linked dominant disorder caused by a mutation in the NEMO gene.Females only present at birth with linear lesions of inflammation and blistering (stage 1), followedby hyperkeratotic verrucous areas (stage 2), hyperpigmentation (stage 3), and then atrophy (stage4). Systemic findings include psychomotor retardation, microcephaly, seizures, cerebellar ataxia,coloboma, and retinal detachment27) Which of the following is a paraneoplastic disease most often associated with lung carcinoma?A. Acanthosis nigricansB. DermatomyositisC. Paraneoplastic pemphigusD. ErythrodermaE. Hypertrichosis lanuginosa acquisitaCorrect ChoiceHypertrichosis lanuginosa acquisita is the abrupt onset of downy, soft, non-pigmented hair of theface, trunk, and extremities. It may have an associated glossitis. It is associated with underlyinglung carcinoma and may resolve with treatment of the underlying malignancy28) Patients with this syndrome, as well as their family members, should undergo periodicsurveillance for renal cell carcinoma: 8
  • A. Pseudoxanthoma ElasticumB. Fabrys DiseaseC. Birt-Hogg-Dube SyndromeCorrect ChoiceD. Osler-Weber-RenduE. Nail-Patella SyndromeStrong evidence suggests that BHDS and bilateral renal tumors co-segregate in an autosomaldominant fashion. Histologically, these renal tumors are oncocytomas, chromophobe adenomas, andpapillary renal cell carcinoma. Periodic surveillance of patients and their relatives for renal cellcarcinoma is recommended29) You are called to evaluate a patient on the oncology service with the lesions pictured. Which ofthe following statements is NOT true regarding this disease process? (Photo courtesy This patient will most likely die from complications of the underlying malignancy.B. Skin biopsy would reveal suprabasal acantholysis and dyskeratosis.C. This patient most likely has an underlying gastric carcinoma.Correct ChoiceD. Direct immunofluorescence of perilesional skin would demonstrate intercellular IgG and granularC3 at the dermoepidermal junction.E. Skin biopsy would reveal vacuolar interface dermatitis with a lichenoid infiltrate.Paraneoplastic pemphigus presents with painful oral erosions/ stomatitis as well as a polymorphousskin eruption. Most patients die from complications of the underlying malignancy. The condition isassociated with Non-Hodgkins lymphoma, chronic lymphocytic leukemia, thymoma, Castlemanstumor, and sarcoma. Statements A, C, D, and E are correct30) All of the following are true regarding the condition pictured EXCEPT:A. It is associated with HLA-DQ2, HLA-DR3, and HLA-B8B. Only 20% of patients have a gluten-sensitive enteropathyCorrect ChoiceC. Perilesional direct immunofluroescence shows granular IgA in the dermal papillae and at thedermoepidermal junctionD. Cutaneous findings are due to autoantibodies to epidermal transglutaminaseE. It is associated with Hashimotos thyroiditisAll of the statements regarding dermatitis herpetiforms, or "Duhrings Disease," are true except forstatement B. Virtually all DH patients have gluten-sensitive enteropathy, although only 20% ofthem have symptoms (such as diarrhea, steatorrhea, weight loss, bloating, and malabsorption).31) Which of the following is true regarding cutaneous associations with hepatitis C virus (HCV)infection?A. Pruritus in the setting of chronic HCV infection is generally correlated with elevated bile salt levelsin the setting of liver failureB. Cutaneous reactions to HCV treatment are less common with interferon/ribavirin combinationtreatment than with treatment with interferon aloneC. HCV-related porphyria cutanea tarda may be caused by decompartmentalization of iron storesand resultant oxidation of uroporphyrinogen decarboxylaseCorrect Choice 9
  • D. Polyarteritis nodosa is associated with HCV infection but not hepatitis B virus infectionE. Erosive mucosal lichen planus has a weaker association with HCV than does cutaneous lichenplanusErosive mucosal variant of lichen planus has the strongest association with HCV. The pathogenesisof pruritus in the setting of chronic HCV infection may be related to elevated bile salt levels in thesetting of liver failure, but there is not always a direct correlation between serum bile salt level anddegree of pruritus. Polyarteritis nodosa is associated with both HCV infection and hepatitis B virusinfection. Statement D is correct. Cutaneous reactions to HCV treatment are more common withinterferon/ribavirin combination treatment than with treatment with interferon alone.32) Which of the following is TRUE about diabetic-related skin disease?A. Necrobiosis lipoidica affects approximately 20% of diabeticsB. Bullae are common on the thighsC. Diabetic dermopathy affects the upper backD. Yellow skin affects the majority of diabetic patientsE. Direct immunofluorenscence is usually negative in bullous diabeticorumCorrect ChoiceApproximately 30% of diabetic patients have cutaneous manifestations of their disease. Diabeticdermopathy, or “shin spots” is the most common cutaneous association with diabetes. Patients aregenerally long-standing diabetics, and are associated with symmetrical brownish, atrophic plaqueson the shins. Acanthosis nigricans is more common in black and Hispanic diabetics, and may be acomponent of the HAIRAN (hyperandrogen, insulin resistance, acanthosis nigricans) syndrome.Hyperpigmented velvety plaques are most often found in the flexures. Waxy, thick skin and limitedjoint mobility are both related to poor glucose control. Scleredema diabeticorum, which most oftencauses thickened plaques of the upper back and neck most often affects type II diabetics.Necrobiosis lipoidica diabeticorum (NLD) is present in only 0.3 to 3% of diabetics, but perhaps 20%of patients with NLD have diabetes or glucose intolerance. Sharply-demarcated yellow-brown,telangiectatic plaques are found on the tibial surfaces. Ulceration may occur. Yellow skin may affectapproximately 10% of diabetics and presents diffusely. Serum carotene levels may be elevated.Perforating disorders may be related, especially in the setting of renal disease. In the setting ofhypertriglyceridemia, eruptive xanthomata may be present. The association between diabetes andgranuloma annulare (GA) is controversial. If truly an association, the generalized and perforatingforms of GA are most commonly associated. Infectious associations include candidiasis, which maypresent an angular cheilitis, chronic paronychia, interdigital or intertriginous disease. Cutaneousbacterial infections, including group A and B streptococci, pseudomonas aerugenosa andcorynebacterium are more common. Dermatophyte infections are not more common, although tineapedis may increase the risk for cellulitis in diabetic patients. Finally, rhinocerebral mucormycosis is apotential disasterous complication of uncontrolled hyperglycemia with ketoacidosis. Mortality ratescan approach 35%.33) The most likely underlying malignancy associated with the lesions shown is:A. Breast CancerB. Waldenstroms macroglobulinemiaC. Acute myelogenous leukemia Correct ChoiceD. Castlemans tumorE. Multiple myelomaThese are typical lesions of Acute Febrile Neutrophilic dermatosis (Sweets Syndrome), aparaneoplastic disease most strongly associated with Acute myelogenous leukemia34) The most common autoimmune disease associated with hepatitis C is: 10
  • A. Myasthenia gravisB. Autoimmune thyroiditis Correct ChoiceC. Aplastic anemiaD. Rheumatoid arthritisE. Lymphocytic sialadenitisThe most common autoimmune disease seen in association with Hepatitis C is autoimmunethyroiditis.35) This patient with the above findings also has recurrent bouts of rectal bleeding and cramping.The most likely underlying disease is:A. Henoch-schonlein purpuraB. Gardner’s syndromeC. Polyarteritis nodosumD. Ulcerative colitis Correct ChoiceE. Dermatitis herpetiformisThese cobblestone mucosal lesions are pyostomatitis vegetans. They are seen in those withulcerative colitis36) The shoulder pad sign has been described in which disease?A. cushings diseaseB. nephrogenic fibosing dermopathyC. dermatomyositisD. systemic lupus erythematosisE. systemic amyloidosisCorrect ChoiceThe shoulder pad sign has been described in the setting of late systemic amyloidosis and is due tothe direct deposition of amyloid in the deltoid muscles37) Hypothyroidism may result in all of the following cutaneous findings except:A. PurpuraB. Yellowish hueC. All of these answers are correctCorrect ChoiceD. Increase in the percentage of telogen hairsE. MadarosisAll of the above are non-specific cutaneous manifestations of hypothyroidism: an increase inpercentage of telogen hairs, yellowish hue caused by carotenemia, purpura secondary to impairedwound healing, and loss of the lateral third of the eyeborw (madarosis)38) The most likely underlying diagnosis of the patient in the figure is:A. SLE 11
  • B. EndocarditisC. Mycosis FungoidesD. Multicentric ReticulohistiocytosisE. Dermatomyositis Correct ChoiceThis patient has periungal telangiectasias. It is commonly seen in those with dermatomyositis39) Which of the following diseases is caused by an enzymatic defect that occurs in themitochondria?A. Erythropoeitic ProtoporphyriaCorrect ChoiceB. Hepatoerythropoetic PorphyriaC. Congenital Erythropoeitic PorphyriaD. Acute Intermittent PorphyriaE. Porphyria Cutanea TardaDefects in many of the enzymes involved in heme synthesis are responsible for porphyrias. The firstand last three steps of the heme synthesis pathway occur in the mitochondria40) Which of the following is (are) characteristic of basal cell nevus syndrome?A. Tram-track calcificationsB. TelangiectasiasC. Autosomal recessive inheritanceD. NEMO gene mutationE. ColobomasCorrect ChoiceBasal cell nevus syndrome (Gorlin syndrome) is caused by an autosomal dominant mutation inPTCH gene that encodes PTC protein involved in sonic hedge hog pathway. This mutation leads toloss of inhibition of smoothened (SMO) leading to an increased expression of other genes.Cutaneous findings include nevoid basal cell carcinomas, milial cysts, epidermoid cysts and palmar-plantar pits. Neurological findings include calcifications of the falx cerebri, agenesis of the corpuscallosum, mental retardation, medulloblastoma and spina bifida. Ocular findings include blindness,cataracts, colobomas and strabismus. Other findings include odontogenic cysts of the jaw, frontalbossing, bifid ribs, and pectus deformity. NEMO gene mutations are found in incontinentia pigmenti.Tram-track calfications are seen Sturge-Weber syndrome. Telangiectasias are seen in ataxia-telangiectasia among others41) All of the following statements are true regarding this condition EXCEPT:A. 0.3-3% of diabetics have this skin conditionB. There is no impact of tight glucose control on the likelihood of developing this conditionC. This condition is associated with increased dermal mucinCorrect ChoiceD. Diabetes or glucose intolerance is found in 20% of these patientsE. This condition may be associated with cutaneous anesthesia, hypohidrosis, and partial alopeciaNecrobiosis Lipoidica Diabeticorum (NLD) is found in 0.3-3% of diabetics. Approximately 20% ofNLD patients have diabetes or glucose intolerance. It presents with single or multiple red-brownpapules which progress to sharply demarcated yellow-brown atrophic, telangiectatic plaques withviolaceous, irregular borders; common sites include the shins. Cutaneous anesthesia, hypohidrosis, 12
  • and partial alopecia can be found. Pathology shows palisading granulomas containing degeneratingcollagen (necrobiosis); with NO increase in dermal mucin. There is no impact of tight glucose controlon the likelihood of developing NLD42) A patient with esophageal carcinoma has scale plaques on the ears, hands and feet. He mayhave:A. DermatomyositisB. Sweet’s syndromeC. Bazex’s syndromeCorrect ChoiceD. Paraneoplastic pemphigusE. Multicentric reticulohistiocytosisBazex’s syndrome (acrokeratosis paraneoplatica of Bazex) is characterized by psoriasiform changesof the hands, ears, feet, and nose. Involvement of the nails may be indistinguishable from psoriasis.It occurs in association with malignancies of the upper aerodigestive tract43) Which of the following is an autosomal recessive disorder characterized by pili torti anddeafness?A. Waardenburg SyndromeB. Bjornstads SyndromeCorrect ChoiceC. Refsum DiseaseD. Sjorgen-Larsson SyndromeE. Cockayne SyndromeWaardenburg Syndrome is an autosomal dominant disorder. Sjorgen-Larsson Syndrome is anautosomal recessive disorder characterized by a triad of ichthyosis, di- or tetraplegia, mentalretardation. Refsum Disease is an autosomal recessive disorder whose features include deafness,mild ichthyosis in adulthood, and accentuated palmar creases. Bjornstads Syndrome is anautosomal recessive disorder characterized by pili torti and deafness. Cockayne Syndrome is anautosomal recessive disorder whose features include photosensitivity, bird-headed facies, and"Mickey-Mouse" ears, as well as deafness44) Triple palms are a cutaneous manifestation associated with which of the followingmalignancies?A. Renal carcinomaB. Colon carcinomaC. Pancreatic carcinomaD. Prostate carcinomaE. Lung carcinomaCorrect ChoiceTripe palms are rugose thickening of the palms which are nearly always associated with internalmalignancy. When tripe palms are present without other cutaneous findings, the most likely internalmalignancy is lung cancer. Tripe palms in association with acanthosis nigricans is most likely to beassociated with gastric cancer45) Mutations in the STK11 gene encoding a serine threonine kinase are seen in: 13
  • A. Muir-Torre SyndromeB. Bannayan-Riley-Ruvalcaba SyndromeC. Cronkhite-Canada SyndromeD. Peutz-Jeghers SyndromeCorrect ChoiceE. Birt-Hogg-Dubbe SyndromePeutz-Jeghers Syndrome is an autosomal dominant syndrome. 50% of patients have mutations inthe STK11 gene which encodes a serine threonine kinase. It presents with periorificial and mucosallentigines beginning in infancy, as well as hamartomatous intestinal polyps with intussusception andbleeding; gallbladder, pancreatic, breast, ovarian, and testicular cancer46) When metastases to the skin occur from a thyroid malignancy, they are usually due to:A. Medullary carcinomaB. Papillary adenocarcinomaCorrect ChoiceC. Cutaneous metastases have not been reported in association with thyroid malignanciesD. Anaplastic carcinomaE. Follicular carcinomaMetastases to the skin from a thyroid malignancy are rare, but most reported cases occur withpapillary adenocarcinoma47) An uncommon complication of treatment with potassium iodide is:A. Acute generalized exanthematous pustulosisB. Exacerbation of lichen planusC. Erythema nodosumD. Wolff-Chiakoff effect Correct ChoiceE. HyperhidrosisAn uncommon complication of treatment with potassium iodide is the Wolff-Chiakoff effect48) A patient presents with diffuse waxy keratoderma of the palms and soles as well as oral hairyleukoplakia. Which of the following statements regarding this condition is NOT true?A. Features may include squamous cell carcinomas arising from keratodermic skinB. None of these answers are correct (all are true)C. Family members should be advised to undergo cancer screeningD. This condition is autosomal recessiveCorrect ChoiceE. This condition may be associated with esophageal carcinomaHowell-Evans syndrome is an autosomal dominant disorder that presents with diffuse waxykeratoderm of the palms and soles, as well as oral hairy leukoplakia and squamous cell carcinomaarising from keratodermic skin. It is associated with esophageal carcinoma; cancer screening infamily members is advised49) The presence of antibodies to c-ANCA is characteristically seen in patients with which disease? 14
  • A. Nodular vasculitisB. Polyarteritis nodosaC. Churg-Strauss diseaseD. Ulverative colitisE. Wegener’s granulornatosis Correct ChoiceWegener’s granulomatosis is a necrotizing granulomatous disorder that most commonly affects theupper and lower respiratory tracts, kidneys, and eye. Cytoplasmic pattern antineutrophilcytoplasmic autoantibody (anti -proteinase-3) is often positive in this disease. Churg-Strauss isassociated with a positive p-ANCA50) Patients with the condition shown who also have JXG are at increased risk for developing:A. Juvenile chronic myelogenous leukemia Correct ChoiceB. Non-Hodgkins LymphomaC. Medullary carcinoma of the thyroid glandD. Breast cancerE. Esophageal cancerThe picture demonstrates a plexiform neuroma in a patient with NF I. Patient with NF 1 who havemultiple juvenile xanthogranulomas are at 20 times greater risk for developing juvenile chronicmyelogenous leukemia51) Hyperkeratotic follicular nasal papules have been described as a paraneoplastic sign in thesetting of which neoplasm?A. Castlemans tumorB. Renal cell carcinomaC. AMLD. Adenocarcinoma of the lungE. Multiple myelomaCorrect ChoiceHyperkeratotic follicular nasal papules have been described as a paraneoplastic phenomenon in thesetting of multiple myeloma. AML is associated with Sweets syndrome and Castlemans tumor isassociated with paraneoplastic pemphigus52) A patient with gluten-sensitive enteropathy presents with vesicles on the extensor surfaces ofthe extremities. What findings are most likely on a perilesional biopsy?A. Granular IgA at the dermoepidermal junction on direct immunofluorescenceCorrect ChoiceB. Linear C3 and IgG at the dermoepidermal junction on direct immunofluorescenceC. Leukocytoclastic vasculitisD. Linear IgA surrounding vessels on direct immunofluorescenceE. Pautrier’s micro-abscesses in the epidermis on H & EThis patient has dermatitis herpetiformis (DH). DH is characterized by itchy papulovesicles onextensor surfaces of the extremities. Neutrophilic infiltrates at the dermal papillae with vesicleformation are found on histopathologic examination. On immunofluorescence, granular IgA(directed against transglutaminase) deposits are found in perilesional skin. Over 90% of patients 15
  • have gluten-sensitive enteropathy of varying severity. Dapsone is almost universally therapeutic forthe skin disease, but not the enteropathy. A gluten free diet, although difficult to maintain, treatsthe enteropathy. The majority of DH patients have the HLA class II DQ2 genotype. On indirectimmunofluorescence, one may find antigliadin, antiendomyseal or antireticulin antibodies.Autoimmune thyroid disease (especially Hashimoto’s thyroiditis), enteropathy-associated T-cell non-Hodgkin’s lymphoma and insulin-dependent diabetes are the most common autoimmuneassociations. Pautrier’s micro-abscesses are found in mycosis fungoides. Leukocytoclastic vasculitisis not a feature of DH53) Patients with Werner’s syndrome typically experience which of the following types of cardiacdisease?A. Premature atherosclerosisCorrect ChoiceB. Mitral valve prolapseC. Hypertrophic cardiomyopathyD. Aortic aneurysmsE. CardiomegalyWerner’s syndrome or Progeria is caused by autosomal recessive mutations in WRN (Recql2) gene,which encodes DNA helicase. This defect leads to defects in DNA repair and replication. Patientsprematurely age and essentially experience many diseases of aging early in childhood and teenyears. They exhibit tight atrophic skin, relatively large heads for body size, leg ulcers and cannities.Patients experience early, accelerated atherosclerosis leading to death by myocardial infarction. Inaddition, type II diabetes, cataracts, osteoarthritis, osteoporosis and hypogonadism are features54) A patient presents with a rapid increase in the number and size of these lesions. Your next stepshould be to:A. Reassure the patient that the lesions are benignB. Order a chest xrayC. Refer the patient for a workup to rule out a gastrointestinal malignancy.Correct ChoiceD. Discuss with the patients PCP re/ altering their diabetic regimenE. Order a CBC and SPEP/UPEPThe sign of Lesser-Trelat is a rapid increase in the size and/or number of seborrheic keratoses. Itcan be seen in association with acanthosis nigricans and tripe palms, and may have an associatedgeneralized pruritus. It is associated with gastric or colon carcinoma, can appear before or after themalignancy, and may improve with treatment of the underlying malignancy55) A 6 month-old has a verrucous plaque on the mucosal surface of the lower lip. Skin biopsy isconsistent with Riga-Fede disease. You should refer the patient to:A. A hematologistB. An otolarngologistC. A gastroenterologistD. An ophthalmologistE. A neurologistCorrect ChoiceRiga-Fede disease is a benign ulcerative granulomatous process that occurs in reaction to chronic,repetitive trauma of the oral mucosa by the teeth. Clinically, it appears as firm, verrucous plaques.It may be associated with an underlying developmental anomaly or underlying neurologic disorder 16
  • 56) The clinical findings in figure 3 are associated with which disorder?A. DermatomyositisB. Graves disease Correct ChoiceC. Rheumatoid ArthritisD. Myasthenia gravisE. SarcoidosisThis slide shows pretibial myxedema in a patient with Grave’s disease57) All of the following are true regarding Cockayne Syndrome EXCEPT:A. None of these answers are correct Correct ChoiceB. It is caused by an inability to repair cyclobutane dimersC. Inheritance is autosomal recessiveD. It is associated with retinal pigment degeneration with a "salt and pepper" appearanceE. It is associated with basal ganglia calcificationsCockayne Syndrome is an autosomal recessive disorder caused by a mutation of an unknown genethat results in the inability to repair cyclobutane dimers induced by UV exposure. Cutaneousfindings include photosensitivity, "bird-headed" facies, and "Mickey Mouse" ears. Statements A-Dare true regarding the syndrome58) Squamous cell carcinoma is seen in which syndrome?A. Nicolau-Balus syndromeB. Bazex syndrome Correct ChoiceC. Gorlin syndromeD. Rombo syndromeE. Rasmussen syndromeBasex syndrome, also paraneoplastic acrokeratosis, presents with symmetric erythematous, nearlyviolaceous, psoriasiform dermatoses of the hands, feet, ears and nose. The syndrome is nearlyassociated with an underlying malignancy, usually squamous cell carcinoma of the upperaerodigestive tract59) Which of the following is true regarding treatment of inflammatory dermatoses with potassiumiodide?A. The Wolff-Chaikoff effect must be consideredB. The Wolff-Chaikoff effect must be considered and Binding of excess organic iodide in the thryoidgland may occurC. Thyroid hormone synthesis may be inhibitedD. All of these answers are correctCorrect ChoiceE. Binding of excess organic iodide in the thryoid gland may occur 17
  • The Wolff-Chaikoff effect is described as the binding of excess organic iodide in the thyroid glandwith resultant inhibition of thyroid hormone synthesis. This can occur in the setting of patients witherythema nodosum (or other inflammatory dermatoses) being treated with potassium iodide60) Which of the following statements regarding multiple endocrine neoplasia syndromes is true?A. MEN Type IIA is also known as Wermers SyndromeB. Multiple mucosal neuromas are seen in association with MEN Type IIAC. Lichen or macular amyloidosis is seen in association with MEN Type IIACorrect ChoiceD. Patients with MEN Type IIB are at increased risk for developing follicular thyroid carcinomaE. MEN Type IIB is also known as Sipples SyndromeMEN Type I is also known as Wermers Syndrome. MEN Type IIA is also known as SipplesSyndrome. Mucosal neuromas are seen in association with MEN Type IIB. Statement D is correct.Patients with MEN Type IIB are at increased risk for developing medullary thyroid carcinoma61) All of the following are true regarding the condition pictured EXCEPT:A. Men with this condition may be at increased risk for lymphomaB. Associated calcinosis cutis may be seen in pediatric patientsC. Age-appropriate cancer screening is recommendedD. May be associated with a psoriasiform scalp dermatitisE. Elevated aldolase is more specific than CPKCorrect ChoiceAll of the statements regarding dermatomyositis are true except for statement E. Elevated muscleenzymes are found in dermatomyositis, but elevated CPK is more specific than aldolase. Diagnosis isalso established with muscle biopsy showing evidence of inflammation and abnormal EMG62) This autosomal dominant condition is characterized by trichodiscomas, fibroepithelial polyps,and fibrofolliculomas:A. POEMS syndromeB. Cowdens diseaseC. Rombo syndromeD. Proteus syndromeE. Birt-Hogg-Dube syndrome Correct ChoiceBirt-Hogg-Dube is an autosomal dominant condition characterized by trichodiscomas, fibroepilethialpolyps and fibrofolliculomas63) A patient on hemodialysis presents with indurated plaques having a peau d’orange texture onthe bilateral lower legs. Which of the following statements is TRUE?A. The face is usually is affectedB. Dapsone will likely be effective treatmentC. The diagnostic histopathological findings include acanthosis and hyperkeratosisD. The palms and soles are usually affected 18
  • E. Serum protein electrophoresis should be performedCorrect ChoiceThis patient likely has nephrogenic fibrosing dermopathy (NFD). NFD is an acquired, idiopathicdisorder that occurs in renal disease patients. It resembles scleroderma or eosinophilic fasciitisclinically and scleromyxedema histopathologically. Large areas of indurated skin with fibroticnodules and plaques develop. The extremities are most commonly involved, followed by the trunk.The face, palms and soles are almost never involved. Histopathologically, NFD displays aproliferation of dermal fibroblasts and dendritic cells, thickened collagen bundles, increased elasticfibers, and mucin deposition. Serum protein electrophoresis and immunoelectrophoresis results arenegative unlike scleromyxedema, and may be helpful to distinguish the two diseases. NFD is usuallya chronic, progressive condition, and favorable responses to medical intervention are anecdotal64) All of the following are true regarding calciphylaxis except:A. Seen in end-stage renal diseaseB. Vascular mural calcification occurs late in the processCorrect ChoiceC. Association with an elevated calcium: phosphate productD. Association with hyperparathyroidismE. High morality rate is due to sepsisCalciphylaxis is a rare, life threatening disorder that is associated with end stage renal disease.Clinically, patients develop a livedoid purpura and enlarging, tender, indurated subcutaneous plaquetypically on the legs or abdomen. These plaques are subject to ischemia, skin necrosis, andsecondary infection, sepsis, and death. Histologic examination of calciphylaxis is characterized bythe triad of small vessel mural calcivication, extravascular calcification, and vascular thrombosis. Itappears that vascular mural calcification is an early and essential process in the development ofcalciphylaxis65) All of the following are seen more commonly in Crohns disease than in ulcerative colitisEXCEPT:A. Perineal fistulasB. Pyostomatitis vegetansCorrect ChoiceC. Oral cobblestoningD. Perineal fissuresE. Polyarteritis nodosaPyoderma vegetans consists of vegetating plaques and vesicopustules of intertriginous areas thanheal with hyperpigmentation. When the process involves mucosal surfaces it is called pyostomatitisvegetans. These processes are associated with ulcerative colitis, not Crohns disease66) Which of the following is FALSE regarding Fabry’s disease?A. It is associated with acral parasthesiasB. It is inherited in an X-linked recessive fashionC. The etiology is a defect in alpha-galactosidase AD. It may be associated with renal failureE. It is inherited in an X-linked dominant fashionCorrect ChoiceFabry’s disease is an X-linked lysosomal disorder that leads to excessive deposition of neutralglycosphingolipids in the vascular endothelium. The disorder is caused by a deficiency of alpha-galactosidase-A leading to progressive endothelial accumulation of glycosphingolipids. This 19
  • accumulation accounts for the associated clinical abnormalities of skin, eye, kidney, heart, brain,and peripheral nervous system. Acroparesthesias are a frequent presenting symptom of Fabry’sdisease. The primary cutaneous manifestation are angiokeratomata (angiokeratoma corporisdiffusum), which are most common in a “bathing-trunk” distribution. Lens opacities and retinal andconjunctival vascular malformations may be found in the eyes. Patients may experience cardiacdisease, stroke or renal failure67) Which of the following statements about multiple endocrine neoplasia (MEN) syndromes isFALSE?A. MEN I is associated with angiofibromas and collagenomasB. MEN IIa is related to a defect in RET proto-oncogeneC. MEN I, IIa and IIb are all inherited in an autosomal dominant fashionD. MEN IIa is associated with multiple mucosal neuromasCorrect ChoiceE. MEN IIa and IIb are both associated with medullary thyroid carcinomaMultiple endocrine neoplasia (MEN) syndromes are divided into types I, IIa and IIb. All areautosomal dominantly inherited. Type I is associated with mutations in MENI; type IIa and IIbinvolve mutations of RET, which encodes a tyrosine kinase receptor. Type I has the followingcutaneous features: facial angiofibromas, collagenomas, lipomas, hypopigmented macules and café-au-lait macules. Type IIa displays macular amyloidosis, while IIb features multiple mucosalneuromas. Systemic features of type I include peptic ulcer disease (as part of Zollinger-Ellisonsyndrome), parathyroid hyperplasia or adenoma, pancreatic tumors and pituitary neoplasia. TypeIIa is characterized by Zollinger-Ellison syndrome, medullary thyroid carcinoma,pheochromocytoma, and parathyroid neoplasia. Type IIb displays marfanoid habitus, Hirschsprungdisease, medulloblastoma, medullary thyroid carcinoma, pheochromocytoma and ocular neuromas68) Which of the following is true regarding nephrogenic fibrosing dermopathy?A. Is associated with a dramatic increase in dermal mucinB. May be associated with antiphospholipid antibodiesCorrect ChoiceC. Has a rapidly progressive but reversible courseD. Is associated with a paraproteinemiaE. Is associated with peripheral eosinophiliaNephrogenic fibrosing dermopathy has an indolent course and treatment is usually not satisfactory.It is not associated with a paraproteinemia or peripheral eosinophilia. Some patients have beenreported to have antiphospholipid antibodies. Histopathology demonstrates a minimal to slightincrease in dermal mucin69) All of the following are seen more commonly in ulcerative colitis than in Crohns disease except:A. Pyoderma gangrenosumB. Erythema nodosumC. Chronic apthous ulcersD. Pyoderma vegetansE. Polyarteritis nodosaCorrect ChoicePolyarteritis nodosa is associated with Crohns disease and not ulcerative colitis 20
  • 70) A patient with multiple red-brown papules arranged around the nail folds and “operaglassfingers” may have all of the following associated findings except:A. Underlying malignancyB. Fever and weight lossC. Multinucleate giant cell infiltrateD. Progressive cutaneous diseaseCorrect ChoiceE. Mutilating arthritisMulticentric reticulohistiocytosis is a rare disorder characterized by mutilating arthritis andcutaneous nodules. Involvement may also include the mucosa, synovia, and internal organs. On theskin, patients may have non-tender, reddish-brown nodules on the face, hands (coral beadappearance), ears, forearms, scalp, neck, and eyelids. These nodules have a histiocytic infiltratewith multinucleated giant cells with a ground glass appearance. Multicentric reticulohistiocytosis hasbeen reported in association with carcinoma of the colon, breast bonchus, cervix, ovary, stomach,mesothelioma, and melanoma71) Each of the following demonstrates a vasculitis except:A. Henoch-Schoenlein purpuraB. Granuloma facialeC. Type 1 cryoglobulinemiaCorrect ChoiceD. Leukocytoclastic vasculitisE. Wegener’s granulomatosisIn type I cryoglobulinemia, monoclonal IgG or IgM cryoglobulins are found often in association withlymphoma, leukemia, Waldenstrom’s macroglobulinemia, or multiple myeloma. On histopathology,type I cryoglobulinemia is characterized by the deposition of precipitated amorphous cryoglobulinson the endothelium and throughout the vessel wall. The precipitates stain with PAS stain. Aninflammatory infiltrate is typically lacking in contrast to mixed cryoglobulinemia (which shows aleukocytoclastic vascultitis)72) Regarding carcinoid syndrome, which of the following is TRUE?A. The most common location for the tumor is the rectumB. Somatostatin is a preferred treatmentCorrect ChoiceC. VMA is elevated in the urineD. Symptoms are caused by metastases to the skinE. The tumors should not be removedCarcinoid syndrome is caused by a tumor originating in the endocrine argentaffin cells. In order ofdescending frequency, the most common locations are appendix > small bowel > rectum. Patientsexperience facial flushing that descends anatomically, diarrhea, hyperhidrosis and bronchialreactivity. A pellagra-like eruption may occur as well as telangiectasia and sclerodermoid changes.Patients experience symptoms once the disease metastasizes to the liver or if it did not involve theGI tract initially. Diagnosis can be made finding elevated 5-hydroxyindolacetic acid (5-HIAA) in theurine. Nitrosonaphthol turns urine purple if 5-HIAA levels are significantly elevated, and can be usedas a screening test. Bananas, tomatoes, plums, avocadoes and eggplant can increase levels of 5-HIAA. Treatment involves removal of the tumor along with medical therapy if appropriate. Agentsused include somatostatin, methylsergide, cyproheptadine, and beta blockers. Vanillylmandelic acid(VMA) is an important urinary metabolic product of epinephrine and norepinephrine and is detectedin the diagnosis of pheochromocytoma 21
  • 73) Which of the following statements regarding Menkes Disease is true?A. Diagnosis is made by elevated serum ceruloplasminB. Males with the disease may have cutaneous hypopigmentationC. It is caused by a mutation of the ATP7A geneCorrect ChoiceD. It is autosomal recessiveE. Patients with the disease rarely have systemic findingsMenkes Disease in an X-linked recessive disorder caused by mutations of the ATP7A gene encodinga copper-transporting ATPase. It is lethal in males. Systemic findings include severe psychomotorretardation, seizures, and growth failure. Diagnosis is made by low serum ceruloplasmin74) The disorder in the figure is:A. Cutis verticis gyrata Correct ChoiceB. Discoid lupusC. Tinea capitisD. Dissecting cellulitesE. Alopecia mucinosisThis is a picture of cutis vertices gyrata, a condition which can be seen in association with primaryamyloidosis75) Patients with this syndrome are at increased risk for developing Lhermite-Duclos disease:A. Fabrys DiseaseB. MEN Type IIAC. Bournevilles DiseaseD. Nail-Patella SyndromeE. Cowdens SyndromeCorrect ChoicePatients with Cowdens Syndrome (multiple hamartoma syndrome) are at increased risk forLhermite Duclos disease (dysplastic gangliocytoma of the cerebellum).76) The disorder shown in the figure is:A. Pretibial myxedemaB. Lichen amyloidosisC. Lichen planus Correct ChoiceD. Lichen simplex chronicusE. PsoriasisThese lesions are characteristic for lichen planus.Lichen planus is a rare disorder in young childrencausing violaceous papules with sharp demarcation and scales. You can induce more of theselesions by scratching the skin surface (Koebner phenomenon). The most common form of thedisorder is the acute eruptive form where lesions erupt like a viral exanthem and cover most of the 22
  • body surface. Treatment is supportive—antihistamines, topical steroids and rarely systemic steroidtherapy77) The peak sensitivity to prophyrins occurs at which wavelengths?A. 320-400nmB. 290-320nmC. 400-410nmCorrect ChoiceD. 410-450nmE. 220-290nmThe Soret band (400-410 nm) is the portion of ultraviolet wavelengths at which most porphyrins aremost sensitive78) The patient demonstrated in figure 6 would have:A. LDL receptor deficiencyB. Decreased triglyceridesC. Decreased LDLD. Decreased chylomicronsE. Elevated triglycerides Correct ChoiceThis patient has eruptive xanthomas, a condition which is classically associated with elevated serumtriglycerides79) One might see all of the following laboratory and clinical abnormalities in cryoglobulinemiaassociated with hepatitis C virus infection EXCEPT:A. AcrocyanosisB. Urticarial plaquesC. Elevated liver function testsD. Elevated C3 levelsCorrect ChoiceE. Positive rheumatoid factorLaboratory abnormalities of HCV include an elevation of liver enzymes, positive rheumatoid factor(70-90%), and DEPRESSED C3 levels. Classical clinical presentation includes palpable purpura,arthralgias, and glomerulonephritis. Livedo reticularis, hemorrhagic bullae, acrocyanosis, andurticarial plaques can also be found80) Carotenemia can be a manifestation of:A. Graves diseaseB. AmyloidosisC. PorphyriaD. Pretibial myxedemaE. HypothyroidismCorrect Choice 23
  • Reduced matabolism of beta-carotene in the diet, can result in yellowing of the skin inhypothyroidism. Treatment of porphyria with beta-carotene can result in carotenemia. Pretibialmyxedema, Graves disease and amyloidosis do not result in carotenemia81) A patient presents with mild mental retardation, infertility, joint contractures, short stature,ichthyosis, and sparse hair with trichoschisis. All of the following are true regarding this patientscondition EXCEPT:A. The syndrome is caused by impaired nucleotide excision repairB. Patients may have associated cataractsC. Perifoveal glistening white dots are a featureCorrect ChoiceD. If photosensitivity is a feature, gonad size may be normalE. This syndrome is inherited in an autosomal recessive mannerThe patient described has IBIDS syndrome (Ichthyosis, Brittle hair, Intellectual impairment,Decreased fertility, and Short stature), or Tays syndrome. This syndrome is autosomal recessive,caused by mutations in the ERCC2/XPD or ERCC3/XPB genes, resulting in impaired nucleotideexcision repair. Cataracts may be a feature. If photosensitivity is a feature (PIBIDS), gonal size isnormal. Perifoveal glistening white dots are a feature of Sjorgen-Larsson Syndrome, not IBIDS82) This syndrome is cause by defects in the genes that code for tumor suppressor proteinshamartin and tuberin.A. Bournevilles DiseaseCorrect ChoiceB. Cronkhite-Canada SyndromeC. Blue Rubber Bleb Nevus SyndromeD. Bannayan-Riley-Rubalcaba SyndromeE. Cowdens SyndromeTuberous sclerosis, also known as Bournevilles Disease, is an autosomal dominant neurocutaneousdisorder due to mutations in the TSC1 and TSC2 genes which code for the tumor suppressorproteins hamartin and tuberin, respectively83) Which of the following is characteristic of diabetic skin?A. Candida tropicalis is the most common cause of angular cheilitisB. The level of cleavage in bullous diabeticorum is subcornealC. Yellow skin may occur in up to 10% of diabeticsCorrect ChoiceD. There is a well-established association between deep granuloma annulare (GA) and diabetesE. Approximately 20% of diabetics have necrobiosis lipoidica diabeticorum (NLD)Perhaps 0.3 to 3% of diabetics have NLD, whereas approximately 20% of NLD patients havediabetes or glucose intolerance. The split in bullous diabeticorum is normally either intraepidermalor subepidermal. C. albicans is the most common cause of diabetes-related yeast infections. Theassociation between GA and diabetes is controversial, but if the two are related, generalized andperforating GA have been implicated. Yellow skin may occur in up to 10% of diabetic patients and ischaracterized by diffuse yellow-orange skin. Half of these patients have elevated serum carotenelevels. The suggested is cause is elevated consumption of yellow fruits and vegetables in the settingof impaired hepatic metabolism of carotene and subsequent non-enzymatic glycosylation of dermalcollagen 24
  • 84) All of the following are true regarding Henoch-Schonlein Purpura EXCEPT:A. It may be complicated by intussusceptionB. It is self-resolvingC. Direct immunofluorescence of lesional and peri-lesional skin will demonstrate C3 and fibrindeposits in small vessel wallD. It is an IgG mediated small vessel vasculitisCorrect ChoiceE. It is often preceded by an upper respiratory infectionHenoch-Schonlein Purpura (HSP) is an IgA mediated small vessel vasculitis. Clinically, patientspresent with palpable purpura of the lower extremities and buttocks, GI vasculitis, andglomerulonephritis85) Which of the following statements about necrolytic migratory erythema is TRUE?A. Serum glucagon levels are usually normalB. The offending tumor originates from endocrine argentaffin cellsC. Vacuolar changes are normally found on routine histologyD. Acanthosis and parakeratosis are found on routine histologyCorrect ChoiceE. There is a low incidence of metastasis of the offending tumor at the time of diagnosisNecrolytic migratory erythema or glucagonoma syndrome is clinically characterized by periorificialand acral erythema, vesicles, pustules and erosions. A circinate pattern is often seen. Glossitis andcheilitis are features as well. The underlying tumor is an alpha-2 glucagon producing islet cellpancreatic carcinoma, which is metastatic at the time of diagnosis in the majority of cases.Histopathological findings include dyskeratotic keratinocytes in the stratum granulosum, acanthosisand parakeratosis. Serum glucagon levels are elevated. The tumors must be resected if feasible,and intravenous somatostatin and amino acids have been used for treatment86) The deficient enzyme of the condition seen in the figure is:A. Uroporphyrinogen decarboxylase Correct ChoiceB. FerrochetalaseC. dALA synthetaseD. Uroporphyrinogen synthetaseE. Porphobilinogen deaminaseA patient with porphyria cutanea tarda is shown. The associated enzyme deficiency isuroporphyrinogen decarboxylase87) Which of the following is NOT true regarding calciphylaxis?A. May be present with retiform purpuraB. Patients with proximally-located lesions have a better prognosis than those with acrallesionsCorrect ChoiceC. Has an associated mortality of 60-80%D. May be treated with parathyroidectomyE. Histologic findings include medial calcification and intimal hyperplasia of small arteries and 25
  • arteriolesDistribution of lesions in calciphylaxis may predict prognosis; those with acral lesions have a betteroutcome than those with proximally located lesions88) Porphyria cutanea tarda may be associated with all of the following except:A. EstrogensB. Hepatitis C virus infectionC. AlcoholD. Inherited deficiency of uroporphyrinogen III synthase Correct ChoiceE. Polyhalogenated hydrocarbonsA homozygous defect in uroporphyrinogen III synthase in a cause of congenital erythropoieticporphyria, not porphyria cutanea tarda (PCT). PCT may be caused by sporadic or familial deficiencyin uroporphyrinogen decarboxylase, or by any of the other causes listed above 26