ETAS_MCQ_09 pediatric dermatology


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ETAS_MCQ_09 pediatric dermatology

  1. 1. Pediatric Dermatology1) A full term newborn develops erythematous, indurated plaques on the upper back. Which of thefollowing tests should be performed?A. Thyroid function testB. CalciumCorrect ChoiceC. Blood cultureD. Complete blood countE. Alkaline phosphataseThe most likely diagnosis is subcutaneous fat necrosis of the newborn. Hypercalcemia may resultand serum calcium levels should be monitored up to 4 weeks after resolution of the skin2) What is the most common tumor associated with this condition?A. TrichoadenomaB. Trichoblastoma Correct ChoiceC. Syringocystadenoma papilliferumD. Basal cell carcinomaE. Sebaceous carcinomaRecent reviews have identified trichoblastoma as the most common tumor arising within nevussebaceous3) Which finding is associated with Pachydermoperiostosis:A. Mucosal keratosesB. Cutis marmorataC. Cutis verticis gyrataCorrect ChoiceD. Palmoplantar hyperkeratosisE. Osteopathia striataThe scalp change seen in pachydermoperiostosis is cutis verticis gyrata4) An infant presents with the lesion depicted in the photo. What information do you provide theparents regarding this condition?A. The lesion will persist and may grow further Correct ChoiceB. The lesion is associated with a XO karyotypeC. The lesion will respond to laser therapyD. The lesion will go through rapid growth followed by stabilization and regressionE. The lesion will resolve with antifungal therapyThe lesion represented in the photo is an arteriovenous vascular malformation. These lesions do nottypically regress5) Which of the following is most likely associated? 1
  2. 2. A. No additional abnormalityCorrect ChoiceB. DeafnessC. Bifid ribD. AlopeciaE. Coarctation of the aortaThe majority of patients with accessory tragii do not have any associated abnormalities. Multipleanomalies, including deafness and midline defects, have been reported but are rareTrichothiodystrophy classically includes which of the following findings:A. Trichorrhexis nodosaB. Pili tortiC. TrichostasisD. TrichoschisisCorrect ChoiceE. Trichorrhexis invaginataTrichothiodystrophy or PIBIDS is associated with the “tiger-tail” abnormality of trichoschisis7) A 3 month-old girl with multiple hemangiomas along her right jaw is at increased risk for:A. Subglottic hemangiomaCorrect ChoiceB. Hearing defecitsC. Underlying bone abnormalitiesD. Bleeding complicationsE. Oral obstructionHemangiomas are benign vascular tumors which have proliferating phase and then a spontaneousinvolution phase. Depending upon the location, some hemangiomas may have more long termsequelae such as scarring or structural malformation, and rarely, consumptive coagulopathy.Infants with hemangiomas of the “beard” distribution should be evaluated for subglottichemangiomas which may lead to airway obstructionA 3 month-old girl with multiple hemangiomas along her right jaw is at increased risk for:A. Subglottic hemangiomaCorrect ChoiceB. Hearing defecitsC. Underlying bone abnormalitiesD. Bleeding complicationsE. Oral obstructionHemangiomas are benign vascular tumors which have proliferating phase and then a spontaneousinvolution phase. Depending upon the location, some hemangiomas may have more long termsequelae such as scarring or structural malformation, and rarely, consumptive coagulopathy.Infants with hemangiomas of the “beard” distribution should be evaluated for subglottichemangiomas which may lead to airway obstruction8) In a child with zinc deficiency, yet normal or near normal zinc levels, which test could be avaluable adjunctive test?A. Niacin 2
  3. 3. B. IronC. Alkaline phosphataseCorrect ChoiceD. MagnesiumE. ManganeseThe diagnosis of zinc deficiency should be consideredi in at-risk individuals with acral or periorificialdermatitis. Chronic diaper dermatitis in an infant should lead to the evaluation for zinc deficiency. Alow serum zinc level can usually confirm the diagnosis. If normal or near normal a low serumalkaline phosphatase, a zinc-dependent enzyme, may be a valuable adjunctive test9) Posterior auricular adenopathy is a common feature of which exanthem:A. Rubella Correct ChoiceB. Scarlet feverC. MeaslesD. Erythema infectiosumE. MumpsLymphadenopathy with 1-7 days of malaise is commonly described with rubella infection. The rose-pink macular rash follows the prodrome10) What is best the test to confirm a diagnosis?A. Anti Ro antibodyB. BiopsyC. Gram stainD. KOHCorrect ChoiceE. NA antibodyThe picture depicts tinea faceii. A KOH exam should be performed to look for hyphae11) What is the diagnosis?A. Neonatal cphalic pustulosisCorrect ChoiceB. Transient neonatal pustular melanosisC. Erythema toxicum neonatorumD. Acropustulosis of infancyE. MiliariaIn neonatal cephalic pustulosis (neonatal acne), papules and pustules are present but comedonesare absent. Spontaneous remission occurs12) Which of the following is a potential complication of subcutaneous fat necrosis of the newborn?A. Cholestrol clefts in fat cellsB. Acute renal failureC. Hepatitis 3
  4. 4. D. HypercalcemiaCorrect ChoiceE. Elevated uric acid levelsSubcutaneous fat necrosis of the newborn is a rare condition characterized by firm, reddish orpurple nodules which appear on the arms, thighs, buttocks, back and cheeks. This condition isbelieved to result from cold injury. Crystallization occurs within the lipocytes, and this can be seenon histopathology with an associated granulomatous reaction. This is thought to occur due to thehigher melting point of neonatal fat, which contains more saturated fatty acids. Onset of thiscondition occurs within the first two weeks of life and usually resolved over a period of weeks tomonths. Occasionally, lesions heal with atrophy. Hypercalcemia is an infrequent complication ofsubcutaneous fat necrosis of the newborn. Associated symptoms can include irritability, weight loss,vomiting and failure to thrive. Repeated serum calcium tests are advised until one month after allthe cutaneous lesions have resolved13) What is the most appropriate management of this condition?A. Observation Correct ChoiceB. Pulsed dye laserC. EmbolizationD. Oral corticosteroidsE. MRIThis V-shaped vascular lesion is nevus flammeus neonatorum. Most lesions will fade over timewithout intervention14) An infant with failure to thrive has multiple xanthomas on skin exam and foamy histiocytes onbone marrow biopsy. Your diagnosis is:A. Niemann-Pick diseaseCorrect ChoiceB. Fabry’s diseaseC. Tay-Sach’s diseaseD. Hunter’s syndromeE. Gaucher’s diseaseNiemann-Pick disease is an autosomal recessive disease caused by mutations in sphingomyelinphosphodiesterase-1. Patients with Type A Niemann-Pick disease may have xanthomas, progressivepsychomotor deterioration, hepatosplenomegaly, blindness, cherry red spots, and deafness15) An infant presents with yellowish-brown, crusted papules with petechiae in a seborrheicdistribution. Which of the following statements about this entity is likely to be true?A. Maternal-fetal transmission most likely occured in the peripartum periodB. This presentation occurs when the infant is weaned off of breast milkC. CD1+, S100+ cells with comma-shaped nuclei should be seen on biopsyCorrect ChoiceD. An autosomal recessive defect in holocarboxylase synthetase is the causeE. This presentation is consistent with Jacquets dermatitisThis infant has Langerhans Cell Histiocytosis (Letterer-Siwe disease). Multisystem involvement maybe present. Jacquets Erosive Dermatitis presents with severe erosive papules in the diaper region,and is multifactorial in etiology (yeast, irritant dermatitis, moisture). Acrodermatitis enteropathica(zinc deficiency) presents with brown, orange crusted plaques with vesicles and bullae, especially in 4
  5. 5. perineal and perioral areas and distal extremities. The inherited form occurs when the infant isweaned off of breast milk. Biotin deficiency presents similarly; the neonatal form is attributed to anAR defect in holocarboxylase synthetase16) What is the best therapeutic option?A. Topical mupirocinB. Oral prednisoneC. Topical immune modulatorD. Oral cephalexinE. Oral acyclovirCorrect ChoiceThe condition shown in an example of eczema herpeticum, also called Kaposi varicelliform eruption.It occurs when pre-existing dermatitis becomes superinfected with a viral infection, most commonlyatopic herpes infection of atopic dermatitis. The initial treatment of choice is antiviral medications17) Multiple cylindromas are associated with:A. Trichoepitheliomas Correct ChoiceB. Cowden syndromeC. PilomatrichomasD. Carney complexE. Myotonic dystrophyThe Brooke-Spigler syndrome is defined by the presence of multiple trichoepitheliomas andcylindromas18) This condition may be associated with which of the following:A. Perinatal traumaB. HyperlipidemiaC. HypercalcemiaD. Epidermolysis bullosa dystrophica Correct ChoiceE. VitiligoAplasia cutis congenita may be associated with dystrophic epidermolysis bullosa (Bart syndrome19) Neutrophils are characteristically seen on smears from pustules of which of the followingtransient benign neonatal rashes?A. Acne neonatorumB. Erythema toxicum neonatorumC. Acne neonatorum and transient neonatal pustular melanosisCorrect ChoiceD. Infantile acneE. Transient neonatal pustular melanosisNeutrophils are seen on smears from pustules of acne neonatorum and transient neonatal pustularmelanosis. Eosinophils are characteristically seen on smears from erythema toxicum neonatorum 5
  6. 6. 20) Which of the following is characteristic of Wooly Hair Nevus:A. Ocular abnormalities may be associatedB. Sponteneous improvement never occursC. Typically occurs in the 5th decadeD. There are no nevi associated with this hair abnormalityE. It is hereditaryCorrect ChoiceWooly Hair Nevus is the presence of Negroid hair on the scalp of persons of non-Negroidinheritance. The unruly hair presents at birth or in infancy, usually as a solitary problem inherited inan autosomal dominant fashion21) What is the best treatment option?A. Topical tretinoinCorrect ChoiceB. Oral acyclovirC. Topical ketoconazoleD. ObservationE. Oral cephalexinThe lesions shown in the photo are comedones of infantile acne. Topical tretinoin would be the besttreatment option22) Which of the following can present as collodion baby?A. X-linked ichthyosisB. Bullous congenital ichthyosiform erythrodermaC. Sjogren-Larsson syndromeD. Lamellar ichthyosisCorrect ChoiceE. Ichthyosis vulgarisThe most common presentation of collodion baby is lamellar ichthyosis, followed by congenitalichthyosiform erythroderma. Patients with ichthyosis vulgaris and x-linked ichthyosis are normal atbirth. Bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis presents withwidespread bullae, erthroderma, and denuded skin. Sjogren-Larsson presents with generalizedichthyosis and erythroderma in infancy. It is important to know the at-birth presentations of all thedisorders of cornification23) A 2 day-old full term neonate develops blotchy erythematous macules with small centralpustules over the upper trunk and extremities. A gram stain reveals predominantly eosinophils.What is the most likely diagnosis?A. Incontinentia pigmentiB. Erythema toxicum neonatorum Correct ChoiceC. Urticaria pigmentosaD. Transient neonatal pustular melanosis 6
  7. 7. E. MiliariaErythema toxicum neonatorum is a very common eruption in healthy newborns. A gram stainreveals sterile pustules containing eosinophils24) An eight year-old boy presents with pink, flushed cheeks and a low-grade fever. The followingeruption then appeared. What is the most likely etiology?A. ParamyxovirusB. TogavirusC. Parvovirus Correct ChoiceD. HHV6E. Group A streptococcusThis condition, also called Fifths Disease or erythema infectiosum, is caused by parvovirus B19, asingle-stranded DNA virus. There are a few clinical presentations including, diffuse lacy rash on thetrunk that spreads gradually toward the distal extremities, papular-pruritic "gloves-and-socks"syndrome and aplastic crisis which does not have concomitant rash25) What is the best test to confirm a diagnosis?A. Gram stainB. KOH Correct ChoiceC. BiopsyD. Anti Ro antibodyE. DsDNA antibodyThe picture depicts tinea faceii. A KOH exam should be performed to look for hyphae26) Which presentation of psoriasis is more common in children:A. Acrodermatitis continua of HallopeauB. Guttate psoriasisCorrect ChoiceC. Keratoderma blennorragicaD. Pustular psoriasisE. Erythrodermic psoriasisThe majority of cases of guttate psoriasis occur in persons under the age of 3027) This patient had significantly elevated serum CPK. The likely diagnosis is:A. Dermatomyositis Correct ChoiceB. Lupus erythematosusC. Atopic dermatitisD. PsoriasisE. Lichen planus 7
  8. 8. The answer is dermatomyositis with the heliotrope color and distribution of erythema or violaceouscolor. The skin over the metacarpal and proximal interphalangeal joints can become inflamed anderythematous forming Gottron’s papules٢٨) Menkes kinky hair syndrome is associated most commonly with:A. Trichorrhexsis invaginataB. Pili torti Correct ChoiceC. Pili multigeminiD. Plica neuropathicaE. Trichostasis spinulosaThe X-linked recessive Menkes kinky hair syndrome is associated with multiple hair shaftabnormalities, most characteristically, pili torti29) What disorder is associated with a defect in LMX1B?A. Lhermitte-Duclos syndromeB. Chediak-Higashi syndromeC. SteatocystomaD. Nail patella syndrome Correct ChoiceE. MonilithrixA LMX1G gene defect is associated with nail patella syndrome30) Schimmelpenning-Feuerstein-Mims syndrome may be associated with which of the following:A. Hypophosphatemic ricketsCorrect ChoiceB. Polyostotic fibrous dysplasiaC. Osteopathia striataD. Chondrodysplasia punctataE. OsteopokilosisEpidermal nevus syndrome, also known as Schimmelpenning-Feuerstein-Mims syndrome, may beassociated with hypophospatemic, vitamin D resistant rickets31) Variants of xeroderma pigmentosum are due to all of the following defects except:A. EndonucleaseB. HelicaseC. Thymidine kinase Correct ChoiceD. Postrepliction repairE. Nucleotide excision repairThe photosensitivity of xeroderma pigmentosum is caused by defect in DNA repair mechanisms.Thymidine kinase is not affected32) “Slapped cheeks” followed by a lacy eruption on extremities: 8
  9. 9. A. ssRNA virusB. dsDNA virusC. ssDNA virus Correct ChoiceD. StreptococcusE. dsRNA virusThe erythematous eruption on the cheeks precedes the generalized lacy rash of Fifth disease. Thecausative agent is parvovirus B19, a single stranded DNA virus33) Ankyloblepharon filiforme adnatum is seen with a defect in:A. p63 Correct ChoiceB. PlakophilinC. DesmogleinD. C-kitE. PlakoglobinThe ectodermal-clefting syndromes are caused by a defect in the p63 gene. Specifically, AEC orHay-Wells syndrome is comprised of ankyloblepharon filiforme adnatum, ectodermal dysplasia andclefting34) Pachyonychia congenita type 2 is most commonly associated with which of the following:A. DeafnessB. Aplastic nailsC. Increased risk of malignancyD. Natal teethCorrect ChoiceE. PoikilodermaPachyonychia congenita type 2 may be associated with natal teeth and steatocystoma.Pachyonychia congenita type 1 is associated with benign leukoplakia35) The risk of fetal death with intrauterine parvovirus infection may occur with infection in whichtrimester:A. FirstB. ThirdC. SecondD. First, Second and Third Correct ChoiceE. None of these answers are correctFetal hydrops may occur with parvovirus infection during all three trimesters although the greatestrisk is during the second trimester. Congenital anomalies are not a feature36) Individuals with which of the following syndromes characteristically present withphotosensitivity, mental retardation, a "wizened" appearance, "bird-headed" facies, and "MickeyMouse" ears? 9
  10. 10. A. Rothmund-Thomson SyndromeB. Werner SyndromeC. Tay SyndromeD. Cockayne SyndromeCorrect ChoiceE. Hutchinson-Gilford Progeria SyndromeCockayne Syndrome is AR, caused by defective excision repair, cross-complementing group 8 gene(ERCC8). It presents with photosensitivity, mental retardation, and cachectic dwarfism. Patientshave a characteristic "wizened" appearance, "bird-headed" facies, and "Mickey Mouse" ears.Cataracts, deafness, pigmentary retinopathy, dental caries, and skeletal, GU, and endocrineabnormalities may be seen37) What is the most common tumor associated with this condition?A. Sebaceous carcinomaB. TrichoadenomaC. Trichoblastoma Correct ChoiceD. Basal cell carcinomaE. Syringocystadenoma papilliferumRecent reviews have identified trichoblastoma as the most common tumor arising within nevussebaceous38) What the most likely diagnosis?A. Wiskott-Aldrich syndromeB. Atopic dermatitis Correct ChoiceC. Rud syndromeD. Lamellar ichthyosisE. Keratosis pilarisIchythosis vulgaris and hyperlinear palms are both independent minor criteria for the diagnosis ofatopic dermatitis in both children and infants39) A boy is noted at birth to have coarse scales over his trunk and extremities. The face, palms,soles and flexures are spared. What is the least likely association?A. Ectropion Correct ChoiceB. Corneal opacitiesC. CryptorchidismD. Neurologic abnormalityE. Prolonged maternal laborX-linked ichthyosis is characterized by small, dark, firmly adherent scales accentuated on the sidesof the neck and trunk. The face, palms, soles, antecubital and popliteal flexures are generallyspared. Associated extracutaneous findings include corneal opacities (50%), undescended testes(20%), and prolonged maternal labor (usual). Neurological or mental retardation are rare butdocumented associations as XLI can be associated with a contiguous gene syndrome with Kallmansyndrome, mental retardation and X linked recessive chrondrodysplasia punctata 10
  11. 11. 40) Which of the following is not a major criterion for Kawasaki’s disease:A. Palmoplantar erythema > desquamationB. Cardiac aneurysm Correct ChoiceC. Fever >5 daysD. Strawberry tongue/ red lipsE. Cervical adenopathyCardiac aneurysm is a serious complication of Kawasaki’s disease. However, as the cardiovascularmanifestations generally present 1 –5 months after presentation, they are not criteria for diagnosis41) Koplik spots typically appear:A. At the same time as the exanthemB. 1 week after the exanthemC. 8 weeks after the exanthemD. 6 weeks after the exanthemE. Before the exanthem Correct ChoiceThe enanthem of measles precedes the morbilliform eruption.42) Pastia’s lines are characteristic for which eruption:A. Kawasaki’s diseaseB. Scarlet fever Correct ChoiceC. RubellaD. MumpsE. MeaslesPastia’s lines are defined as a linear accentuation of the erythematous sandpaper rash within theflexures. This is classically described with scarlet fever43) Which enanthem is most commonly seen in association with Exanthem subitum?A. Koplik spotsB. Red strawberry tongueC. Red macules and streaks on the soft palateCorrect ChoiceD. Palatal erosionsE. Chapped lips; dry, red mucosaExanthem subitum (roseola or Sixth disease) is caused by HHV6, a dsDNA virus. It presents withhigh fever for several days followed by an exanthem of erythematous macules and papules on thetrunk that begins as the fever ends. An associated enanthem of red macules/streaks on the softpalate may be seen. Koplik spots are seen in measles; the red strawberry tongue (following thewhite strawberry tongue) is seen in Scarlet fever; chapped lips and dry, red mucosa may be seen inKawasakis disease; palatal erosions may be seen in Papular-purpuric gloves and socks syndrome 11
  12. 12. 44) An 8 year-old boy presents with pink, flushed cheeks and a low-grade fever. On week later, thefollowing lacy eruption appeared. What is the most likely etiology?A. TogavirusB. HHV6C. Group A streptococcusD. ParamyxovirusE. Parvovirus Correct ChoiceFifth disease is caused by Parvovirus B19. Most cases start with prodrome of fever, malaise,headache and rhinorrhea. Cutaneous reaction follows approximately 5-7 days later with erythema ofthe cheeks ("slapped cheeks") and reticulate rash of the trunk and extremities45) An infant presents with red-purple, granulomatous nodules occurring in the diaper area. Theetiology is secondary to local irritation, maceration and Candida albicans. What is the most likelydiagnosis?A. Langerhans cell histiocytosisc.B. Biotin deficiencyC. Seborrheic dermatitisD. PsoriasisE. Granuloma gluteale infantum Correct ChoiceThe etiology of granuloma gluteale infantum is multifactorial, resulting from the unique environmentof the diaper area. Treatment consists of topical antifungal agents, barrier creams, and anti-inflammatory agents as needed46) The Carney complex is associated with a defect in:A. LYSTB. PTENC. PRKAR1A Correct ChoiceD. MASH2E. MLH1A PRKAR1A gene defect is associated with the Carney complex47) What syndrome is the disorder shown in the photo associated with?A. Noonan syndrome Correct ChoiceB. Bloom syndromeC. Turner syndromeD. Down syndromeE. Griscelli syndromeThe photo shows keratosis pilaris atrophicans faceii and surgically corrected ptosis. Both of thesefindings are associated with Noonan syndrome 12
  13. 13. 48) A 6 month-old presents with orange-brown crusted plaques around the mouth and groin.Several bullae are present on the fingers and toes. Which of the following laboratory values is likelyto be abnormal?A. CalciumB. HematocritC. Alkaline phosphatase Correct ChoiceD. Platelet countE. ALTThe most likely diagnosis is acrodermatitis enteropathica. Alkaline phosphatase is a zinc dependantenzyme that is decreased in response to low serum zinc levels49) Which of the following should be the next step in the management of this patient?A. spine x-rayB. Administration of oral antibioticsC. Cardiac evaluationCorrect ChoiceD. Barium swallowE. Pulmonary function studiesThis patient must be evaluated thoroughly for PHACES syndrome. PHACES is an acronym forPosterior fossa malformations (Dandy-Walker malformation is most common), Hemangiomas,Arterial anomalies, Coarctation of the aorta, Eye abnormalities, and Sternal cleft defects. Thispatient should have a complete cardiac evaluation, neuroimaging, and ophthalmologic exam. If thefacial hemangioma involves the beard area, this may indicate laryngeal involvement andappropriate imaging and evaluation is mandated. Systemic steroids at high doses (5 mg/kg) areusually administered. If caught early, the sequelae of PHACES syndrome can be minimized50) The association of Port-wine stains on a limb with soft tissue swelling with or without bony overgrowth is:A. Sturge-Weber syndromeB. Goldenhars syndromeC. Klippel-Trenaunay syndromeCorrect ChoiceD. Bannayan-Riley-Ruvalcaba syndromeE. Proteous syndromeThe association of port-wine stain on a limb with soft tissue swelling with or without bonyovergrowth is Klippel-Trenuanay syndrome. Klippel-Trenaunay syndrome is characterized by theTriad of port-wine malformations in association with deep venous system malformations, superficialvaricosities, and bony and soft tissue hypertrophy. Sturge-Weber syndrome has 2 essentialcomponents: Facial port-wine stain and homolateral leptomeningeal angiiomattosis. The port winestain most commonly involves the areas innervated by the ophthalmic(V1) and maxillary (V2)divisions of the trigeminal nerve. Complications of leptomeningeal angiomatosis are epilepsy,mental retardation, and occasionally, contralateral hemiplegia. Proteus Syndrome is characterizedby vascular malformations including nevus flammeus, hemihypertrophy, macrodactyly, verrucousepidermal nevus, soft-tissue subcutaneous masses, and cerebriform overgrowth of the plantarsurface. Babbyan-Riley-Ruvalcaba syndrome may include multiple cutaneous and visceral venous,capillary, and lympathtic malformations, macroephaly, pseudopapilledema, systemiclipoangiomatosis, spotted pigmentation of the penis, hamartomatous intestinal polyps, and rarelytrichilemmonmas. (multiple subcutaneous lipomas as well as acanthosis nigricans). 13
  14. 14. 51) The most common age group for papular-purpuric gloves and socks syndrome is:A. NewbornsB. 6-10 year oldsC. ToddlersD. Adolescents Correct ChoiceE. ElderlyThis unique presentation of parvovirus infection typically occurs in adolescents and young adults52) What is the most likely diagnosis?A. Traction alopeciaB. Nevus sebaceousC. Alopecia areataD. Tinea capitisE. Aplasia cutis congenita Correct ChoiceAplasia cutis congenita is characterized by the absence of a portion of skin, most commonlypresenting as a solitary defect on the scalp, but sometimes it may occur as multiple lesions. Thelesions are non-inflammatory and well demarcated appear as an atrophic, membranous, ulceratedarea with alopecia. The condition may be associated with other physical anomlies53) POEMS syndrome is associated with which of the following:A. M proteinCorrect ChoiceB. Odontogenic cystsC. Saddle nose deformityD. Premature agingE. Eye abnormalitiesThe acronym POEMS stands for polyneuropathy, organomegaly, endocrinopathy, M-protein, andskin changes54) Osteopathia striata is found in which disorder?A. Gorlins syndromeB. Neurofibromatosis IC. McCune-Albright syndromeD. Buschke-Ollendorff syndromeE. Focal dermal hypoplasiaCorrect ChoiceOsteopathia striata (vertical striations in the metaphysis of long bones on x-ray) is seen is greaterthan 80% of cases of focal dermal hypoplasia (or Goltz syndrome). Polyostotic fibrous dysplasiawith recurrent fractures is seen in McCune-Albright syndrome. Sphenoid wing dysplasia and thinningof long bone cortex is found in neurofibromatosis I. Osteopoikilosis is an asymptomatic x-ray findingin patients with Buschke-Ollendorf syndrome. Osteopoikilosis reflects ectopic calcification that does 14
  15. 15. not increase risk of fracture. Bifid ribs, vertebral fusion/Sprengel deformity of the spine, andkyphoscoliosis can be seen in basal cell nevus syndrome (Gorlins syndrome).55) Which of the following is a ssDNA virus:A. Parvovirus Correct ChoiceB. ParapoxC. HerpesvirusD. PicornovirusE. AdenovirusParvovirus is the only ssDNA virus listed56) Which treatment choice would be contraindicated in a one-year old child who presnents withmonomorphous, nonpruritic flat-topped papules on the face, buttocks, extremities, palms and soles?A. ObservationB. AspirinC. CorticosteroidsCorrect ChoiceD. AcetaminophenE. HydrationGianotti-Crosti or papular acrodermatitis of childhood is associated with a variety of viral infections.Patients have a typical cutaneous manifestation, low-grade fever, mild lymphadenopathy anddiarrhea. Corticosteroids should be avoidedas they may have an adverse effect57) The standard of care of patients with acute Kawasaki’s disease is:A. Supportive careB. Aspirin and IVIGCorrect ChoiceC. PenicillinD. Acetaminophen and IVIGE. PrednisoneKawasaki disease, also called mucocutaneous lymph node syndrome, is an acute febrile disorderbased on the clinical criteria of changes in peripheral extremities, polymorphous exanthema,conjunctival injection without exudates, changes in the lips or oral cavity, acute cervicallymphadenopathy. Fever must be present, lasting more than 5 days. Treatment is aimed to preventcoronary aneurysms and myocardial infarction. Treatment for acute Kawasaki disease is intravenousimmunoglobulin 2 g/kg over 10-12 hours and aspirin therapy58) A newborn has a nodule over his lumbar spine. Skin biopsy reveals a lipoma. The nextappropriate step is:A. Genetic testingB. ObservationC. Imaging studyCorrect ChoiceD. Malignancy work up 15
  16. 16. E. Excision of the lesionThe skin can provide an important clue to the presence of an underlying neural tube defect, such asmeningomyelocele and encephalocele. Cutaneous lesions along the midline of the spine shouldalways prompt consideration of this possibility. Although, midline neural tube defects areuncommon, early recognition and diagnosis of a spinal dysraphism can have important implicationsfor early surgical correction and minimizing loss of neurologic function. Clues to the diagnosisinclude a midline dimple, tuft of hair, lipoma, or vascular lesion. In these instances, imaging studies(MRI, CT, ultrasound) should be promptly initiated59) An infant presents with the lesion depicted in the photo. Which of the following is least likely?A. Dandy-Walker malformationB. Congenital cataractsC. Sternal cleftingD. Supraumbilical rapheE. Seizure disorder Correct ChoiceExtensive facial hemangiomas are a component of the PHACES syndrome. Seizure disorder has notbeen described60) A 24 month-old infant presents with yellowish-brown, crusted papules with petechiae in aseborrheic distribution. A biopsy is done to confirm a diagnosis. Which histologic picture is mostlikely?A. CD1-, S100- cells with reniform nucleiB. Mixed cellular infiltrate in a “ball and claw” patternC. Foamy histiocytes with Touton giant cellsD. Superficial perivascular infiltrate with mild spongiosis and neutrophil containing scale crustE. CD1+, S100+ cells with reniform nuclei Correct ChoiceLangerhans cells are CD1 and S100 positive. The nuclei are described as kidney shaped, or reniform61) What is the function of the gene which is defective in ataxia-telangiectasia?A. Pathway of cholesterol biosynthesisB. Cross-linking of structural proteins in the protein and lipid envelope of the upper epidermisC. Gap junction proteinD. DNA repair proteinCorrect ChoiceE. Tumor supressor proteinThe defective gene is ataxia-telangiectasia (Louis-Bar syndrome) is the ATM gene, which isresponsible for DNA repair, especially after ionizing radiation. Tumor suppressor genes mutationsare responsible for basal cell nevus syndrome, xeroderma pigmentosum, Muir-Torre syndrome,dyskeratosis congenital, Gardner syndrome, Peutz-Jeghers syndrome, Cowden syndrome, and MENsyndromes. Connexins are gap junction proteins that are responsible for intercellular communicationand signaling. Mutations in connexins are responsible for Vohwinkel syndrome anderythrokeratoderma variabilis. Mutations in the cholesterol biosynthesis pathways cause CHILDsyndrome and Conradi-Hunermann syndrome. Tranglutaminase 1 (TGM 1) is involved in the normalcross-linking of structural proteins in the protein and lipid envelope of the upper epidermis. TGM 1 ismutated in lamellar ichthyosis and congenital ichthyosiform erythroderma 16
  17. 17. 62) What is the diagnosis?A. RubellaB. Contact dermatitisC. Unilateral laterothoracic exanthem Correct ChoiceD. UrticariaE. RoseolaThe child in the photo depicts the “Statue of Liberty” sign of unilateral laterothoracic exanthem63) The most appropriate treatment of a 2 month-old with a hemangioma involving the lateralcanthus is:A. Observation and reassurance of the parentsB. Pulsed dye laserC. Surgical excisionD. Interferon-alphaE. Systemic corticosteroidsCorrect ChoiceSince hemangiomas characteristically follow a course of proliferation followed by spontaneousinvolution, many of the lesions can be followed with conservative management includingobservation. However, indications for treatment of hemangiomas include obstruction of vitalfunction, high-output cardiac failure, ulceration, infection, diaper area location and location on theface. Aggressive treatment is indicated for a hemangioma located on the lateral canthus since twoof the above indications apply. Importantly, obstruction of the visual field may impair developmentof the visual cortex in an infant. Oral glucocorticoids are the mainstay of treatment forhemangiomas, with 30 to 60% of lesions responsive to therapy. Alternative treatments forproblematic hemangiomas include intralesional steroids, interferon alpha-2a, and pulsed dye laser64) Neonatal acne is associated with species of which organism:A. StreptococcusB. CandidaC. MalasseziaCorrect ChoiceD. StaphylococcusE. PropionibacteriumAcne which develops within the first 30 days of life is termed neonatal acne. Neonatal acne has apredilection for the face, chest, back and groin appearing as small, discrete papules at 2 to 4 weeksof age, and persisting for up to 8 months. As these lesions are self-resolving, no treatment isnecessary, though 2.5% benzoyl peroxide may hasten resolution. Neonatal acne is quite commonand is postulated to occur as a result of hyperplasia of premature sebaceous glands coupled withtransient increases in circulating androgens. More recent data suggests that Malassezia species maybe implicated at etiologic factors in neonatal acne. These organisms have been cultured from theskin of affected patients, though their exact role in unclear65) What is the most likely diagnosis?A. Cutaneous T-cell lymphomaB. Psoriasis 17
  18. 18. C. Contact dermatitisCorrect ChoiceD. Lichen planusE. Pityriasis roseaThis periumbilical eruption is classic for a contact nickel allergy. The metal snaps on pants are thecause in this case66) What is the best therapeutic option?A. Oral cephalexinB. Oral prednisoneC. Oral acyclovir Correct ChoiceD. Topical mupirocinE. Topical immune modulatorThe condition shown is eczema herpeticum. The most appropriate treatment is oral acyclovir67) The most likely etiology of Jacquet’s diaper dermatitis is:A. Multifactorial Correct ChoiceB. CandidaC. Trichophyton rubrumD. Herpes simplex virus, Type 2E. Group A beta-hemolytic streptococcusJacquet’s diaper dermatitis is a multifactorial process. Yeast, irritants and moisture all contribute tothe occurrence of this eruption68) The causative agent of Roseola is:A. A dsRNA virusB. A ssDNA virusC. StreptococcusD. A dsDNA virus Correct ChoiceE. A ssRNA virusRoseola is caused by Human Herpesvirus 6, a double stranded DNA virus69) Which of the following is the most common complication associated with cutis marmoratatelangectatica congenita?A. Systemic lupus erythematosusB. HypercalcemiaC. Limb hypertrophy or atrophy Correct ChoiceD. Atrial septal defectE. Seizure disorder 18
  19. 19. Hypertrophy or atrophy of the affected limb is the most likely consequence of cutis marmoratatelangectatica congenita. Orthopedic evaluation should be a part of the patient’s routinemanagement70) Which of the following may be associated?A. Atrial septal defectB. AVMC. ParonychiaD. Seizure disorder Correct ChoiceE. Cleft palateNevus sebaceus can very rarely be associated with multiple anomalies. Schimmelpenning syndromecan include seizure disorder, mental retardation, coloboma, as well as skeletal, cardiac andgenitourinary abnormalities71) A 4 month-old with difuse blisters and erosions has a skin biopsy diagnostic of generalizedmastocytosis. Which topical dressing should be avoided in this patient?A. PetrolatumB. Mupirocin ointmentC. Polymyxin B ointmentCorrect ChoiceD. Neomycin ointmentE. Silver sulfadiazineMastocytosis compromises a group of diseases characterized by increased number of mast cells inthe skin and other organs. Seventy-five percent of cases occur before the age of 2. Patients withmastocytosis should avoid potential mast degranulators including aspirin, codeine, opiates,procaine, spicy foods, cheese, alcohol, polymyxin B.72) A neonate presents with a large segmental hemangioma of the V1 distribution. What arefeatures may be associated with this finding?A. Posterior fossa defectCorrect ChoiceB. Tram-track calcificationsC. Muscular dystrophyD. M-paraproteinemiaE. Anterior fossa defectPHACES syndrome consists of posterior fossa defect, hemangiomas (often segmental and large),arterial defects, cardiac defects, eye abnormaliteis, and sternal clefting. Posterior fossa defectsinclude the Dandy-Walker malformtion73) Late onset subungual keratotic tumors are associated with:A. Basal cell nevus syndromeB. Incontinentia pigmenti Correct ChoiceC. Neurofibromatosis Type 1 19
  20. 20. D. Cowden syndromeE. Carney complexA NEMO gene defect can cause subungual keratotic growths. The typical age of presentation is earlyadulthood74) A 2 week-old infant is brought to the ER with a rash on her face. She is found to have a 3rddegree heart block. What is the risk that a second child born to this mother will have the samediagnosis?A. 100%B. 10%C. 25%Correct ChoiceD. 5%E. 50%The diagnosis here is neonatal lupus erythematosus. Babies are normal at birth and develop skinlesions within the few months of life. About half of these babies will have an associated congenitalheart block, usually 3rd degree, which is permanent. Most infants with NLE are girls and are born tomothers who are Ro/La positive. There is a 25% chance that a second child with have NLE75) A newborn presents with a well-defined, shiny patch with complete alopecia on the vertex ofthe scalp along the suture lines. Which of the following is the first step in diagnosis?A. CalciumB. Skin biopsyC. Fungal cultureD. MRIE. Skull x-ray Correct ChoiceThe newborn most likely has aplasia cutis congenita. A skull x-ray would be the simplest, most costeffective means of identifying any underlying bony abnormality76) Multiple lesions are associated with a defect in:A. PatchedB. RasC. Beta-catenin Correct ChoiceD. NEMOE. PTENThe bluish cystic nodule on the face of this boy is a pilomatrichoma. A defect in beta-catenin hasbeen implicated77) Which of the following disorders is more likely to occur in children with chronic fecalincontinence?A. Seborrheic dermatitisB. Perianal streptococcal disease 20
  21. 21. C. Perianal pseudoverrucous papules and nodules Correct ChoiceD. Granuloma gluteale infantumE. Langerhans cell histiocytosisThe warty papules of perianal pseudoverrucous papules and nodules are seen more commonly inthe setting of chronic fecal incontinence78) All four subtypes of Phakomatosis Pigmentovascularis have which feature in common:A. Nevus spilusB. Nevus anemicusC. Epidermal neviD. Nevus flammeusCorrect ChoiceE. Dermal Melanocytosis.Phakomatosis Pigmentovascularis: Patients with a combination of vascular malformations andmelanocytic or epidermal nevi are grouped into 4 subtypes of this disorder. All have nevusflammeus/capillary malformation (CM).Type I: CM + epidermal nevusType II: CM + dermal melanocytosis +/- nevus anemicusType III: CM + nevus spilus +/- nevus anemicusType IV: CM + dermal melanocytosis + nevus spilus +/- nevus anemicus79) The disorder caused by a defect in intestinal zinc-specific transporter SLC39A4 is most likely topresent:A. At birthB. In adulthoodC. Upon weaning from breast milk Correct ChoiceD. In childhoodE. Upon weaning from formulaIn acrodermatitis enteropathica, there is decreased absorption of zinc from the infant’sgastrointestinal tract. The zinc in breast milk has greater availability than nonmaternal sources thusprotecting the child from disease expression until weaning80) The lesion depicted is most often associated with:A. Polyostotic fibrous dysplasia Correct ChoiceB. Chondrodysplasia punctataC. Cleft palateD. OsteopoikilosisE. Sphenoid wing hypoplasiaThe “coast of Maine” café au lait macule is associated with McCune-Albright syndrome andpolyostotic fibrous dysplasia81) What is the most likely diagnosis? 21
  22. 22. A. German measlesB. Letterer-Siwe diseaseC. Mucocutaneous lymph node syndromeD. Exanthem subitumE. Papular acrodermatitis of childhoodCorrect ChoiceGianotti-Crosti syndrome is also known as papular acrodermatitis of childhood. The eruption ischaracterized by lichenoid papules in an acral distribution82) A full term neonate is noted to have small pustules with no underlying erythema present atdelivery. The pustules are easily removed with clearing of the vernix and a collarette appears. Agram stain is done showing predominately neutrophils without bacteria. What is the most likelydiagnosis?A. MiliariaB. Transient neonatal pustular melanosis Correct ChoiceC. Urticaria pigmentosaD. Erythema toxicum neonatorumE. Congenital candidiasisTransient neonatal pustular melanosis typically begins with sterile pustules that leave acharacteristic collarette when ruptured. The lesions heal with hyperpigmented macules83) What is the most likely diagnosis:A. Facticial dermatosisB. Epidermolysis bullosa simplex Correct ChoiceC. Linear bullous IgA diseaseD. Epidermolysis bullosa dystrophicaE. Pemphigus vulgarisThe bullous lesions represented are nonscarring and are associated with obvious nail dystrophy.Epidermolysis bullosa simplex, Dowling-Meara type, is the best option84) Which of the following diseases with immunodeficiency has an increased risk of lymphoreticularmalignancy?A. Chronic granulomatous diseaseB. Severe combined immunodeficiency syndromeC. Leiner’s diseaseD. Wiskott-Aldrich syndromeCorrect ChoiceE. Job syndromeWiskott-Aldrich syndrome is an X-linked recessive disorder caused by mutations in WAS gene.Patients with Wiskott-Aldrich have atopic dermatitis with increased risks for secondary infection,thrombocytopenia, and recurrent bacterial infections. They are also at an increased risk forlymphoreticular malignancy (20% 22
  23. 23. 85) Which of the following is the most common long term sequelae from congenital rubellasyndrome?A. NystagmusB. MacrocephalyC. MicrocephalyD. Deafness Correct ChoiceE. Saber shinsDeafness may occur in up to 50% of infants with congenital rubella syndrome86) Rhinorrhea, condylomata lata, and mucous patches are all seen with which congenital disorder?A. Human papillomavirus infectionB. Herpes simplex virusC. RubellaD. ToxoplasmosisE. Syphilis Correct ChoiceSigns of congenital syphilis include rhinorrhea, snuffles, rhagades, condylomata lata, and mucouspatches. Condylomata lata or a generalized papulosquamous eruption of secondary syphilis may bepresent in diaper area87) What is the most likely diagnosis?A. Langerhans cell histiocytosisB. Perianal streptococcal disease Correct ChoiceC. Granuloma gluteale infantumD. PsoriasisE. Contact dermatitisThe bright red erythema of perianal streptococcal disease can also involve the creases of the groinand axillae88) What is the most likely diagnosis?A. Bullous pemphigoid of infancyB. Herpes zosterC. Epidermolysis bullosa simplexD. Incontinentia pigmenti Correct ChoiceE. Disseminated herpes simplexThe vesicular lesions following the lines of Blaschko are typical for incontinentia pigmenti89) Which of the following is most likely associated?A. No additional abnormality Correct Choice 23
  24. 24. B. AlopeciaC. DeafnessD. Bifid ribE. Coarctation of the aortaThe majority of patients with accessory tragii do not have any associated abnormalities. Multipleanomalies, including deafness and midline defects, have been reported but are rare90) What is the most likely diagnosis?A. Seborrheic dermatitisB. Langerhans cell histiocytosisC. Psoriasis Correct ChoiceD. Perianal streptococcal diseaseE. Contact dermatitisThe well-defined erythematous plaque is an example of psorisis in the diaper area. The moist natureof the diaper environment results in a loss of the classic silvery scale91) A healthy, full-term infant develops a pustular, erythematous eruption on her face and trunk onthe third day of life. A smear taken from one of these pustules would show:A. Predominantly neutrophilsB. Predominantly eosinophilsCorrect ChoiceC. Gram-positive bacteriaD. HyphaeE. Multi-nucleated giant cellsThis baby has developed erythema toxicum neonatorum, a benign, self-limited eruption that occursin the majority of healthy, full-term infants. Erythema toxicum usually develops on the second orthird day of life and resolves by day 10. A smear taken from one of the pustules will demonstrateeosinophils, which is sufficient to make the diagnosis. Viral infections of the skin may demonstratemulti-nucleated giant cells on Tzanck smear. Transient neonatal pustular melanosis is present atbirth; neonates present with small, superficial pustules that rupture easily. Some may haveruptured in utero, leaving pigmented macules. The pigmentation may persist for weeks to months indarkly-complexed infants. A smear of the intracorneal/subcorneal pustule will show mostlyneutrophils, but eosinophils may also be present92) Which of the following clinical signs is most likely associated?A. AlopeciaB. HypertrichosisC. Clitoral hypertrophy Correct ChoiceD. NeurofibromasE. Axillary frecklingThe “coast of Maine” café au lait macule is associated with McCune-Albright syndrome. Endocrineabnormalities, including precocious puberty and polyostotic fibrous dysplasia are associatedfeatures. The genetic mutation which results in this genodermatosis is due to a post-somaticmutaion in the alpha sub-unit of stimulatory G-protein 24
  25. 25. 93) A newborn infant presents with ring of long, dark, coarse hair surrounding a midline scalp patchof alopecia. What is associated with this finding?A. Thyroid diseaseB. Alopecia areataC. Ectopic brain tissueCorrect ChoiceD. DeafnessE. Nevus sebaceus of JadassohnThe "hair collar sign" is associated with ectopic brain tissue and is thought to arise from a congenitalherniation through the skull. Caution must be used in evaluation as biopsy or needle aspiration maylead to retrograde infection94) What deficiency is responsible for this condition?A. Vitamin AB. ThiamineC. Vitamin CD. ZincCorrect ChoiceE. NiacinAcrodermatitis enteropathica is a rare inherited disorder transmitted in an autosomal recessivefashion. The disorder is caused by an inability to absorb zinc. the clinical syndrome is characterizedby acral dermatitis, alopecia, and diarrhea. Zinc deficiency from other causes (including chronicwasting, poor oral intake, lack of supplementation in total parenteral nutrition) can cause similarclinical changes95) The genetic disorder depicted in this photo is caused by a mutation in:A. STK11 Correct ChoiceB. PatchedC. TSC1D. PTENE. MASH2The multiple labial lentigo seen on this young boy are seen with Peutz-Jegher syndrome. A defect inthe STK11 gene is responsible96) A 2 year-old has a high fever for three days, as the fever breaks, a generalized rash appears onthe trunk. The most likely diagnosis is:A. RubellaB. Erythema infectiosumC. MeaslesD. Roseola Correct ChoiceE. Mumps 25
  26. 26. Roseola typically appears in toddlers. A high fever followed by a generalized maculopapular rash ischaracteristic for this HHV6 infection97) What is the most likely neoplasm associated with this lesion?A. KeratoacanthomaB. Syringocystadenoma papilliferumCorrect ChoiceC. Clear cell acanthomaD. Basal cell carcinomaE. PilomatricomaNevus sebaceus is usually a solitary lesion that presents at birth or shortly after. It usually has acharacteristic yellow or yellow brown color with a verrucous surface. Syringocystadenomapapilliferum is the most common neoplasm associated with nevus sebaceous98) What is the most likely diagnosis is this 16 year old patient who developed generalized eruption2 weeks after onset of sore throat due to strep infection?A. Lichen planusB. Cutaneous T-cell lymphomaC. Pityriasis roseaD. Psoriasis Correct ChoiceE. Contact dermatitisAlthough the exact mechanism is not known, there is a well-known correlation between a history ofupper respiratory infection secondary to group A beta-hemolytic streptococci and the subsequentdevelopment of guttate psoriasis. The eruption may resolve spontaneously or with treatment(topical steroids or ultraviolet therapy). Some portion of these patients eventually develop chronic,plaque-type psoriasis99) Psammomatous melanotic schwannomas are associated with:A. Tuberous sclerosisB. Neurofibromatosis Type 2C. Bloom syndromeD. Carney complex Correct ChoiceE. Neurofibromatosis Type 1Psammomatous melanotic schwannomas have been described in the Carney complex, a defect inthe tumor suppressor gene, PRKAR1A100) Rapp-Hodgkin is caused by a defect in the following gene:A. Ectodysplasin AB. P63Correct ChoiceC. Desmoglein 1D. Plakophilin 26
  27. 27. E. Connexin 30Rapp-Hodgkin, along with the other ectodermal dysplasia-clefting syndromes, is reportedly causedby a defect in the p63 gene101) The differential diagnosis of zinc deficiency is least likely to include:A. Cystic fibrosisB. Holocarboxylase synthetase deficiencyC. Biotin deficiencyD. Granuloma gluteale infantum Correct ChoiceE. Multiple carboxylase deficiencyAll of the options result in an eczematous acrodermatitis enteropathica-like eruption exceptgranuloma gluteale infantum. As the name suggests, the lesions of granuloma gluteale infantum aregranulomatous 27