Derma Git.


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Dermatological manifestations of systemics diseases & vice versa. For medical specialists.

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Derma Git.

  1. 1. Gastrointestinal Manifestations of Dermatologic Disorders Prepared by: Dr.Mohammad Shaikhani. Assistant professor Sulaimani University College of Medicine Dept of Medicine. [email_address] For Derma postgraduate students
  2. 2. Introduction: <ul><li>Primary dermatologic diseases may involve the GIT or systemic diseases involving the skin, GI tract& liver simultaneously. </li></ul><ul><li>The correct diagnosis relies on the ability of the gastroenterologist to recognize the underlying dermatologic disorder& include. </li></ul><ul><li>Examples: </li></ul><ul><li>IBD/Hepatitis C/Celiac disease </li></ul><ul><li>Epidermolysis bullosa/Mastocytosis/Hereditary hemorrhagic telangiectasia/Melanoma </li></ul>
  3. 3. Epidermolysis Bullosa : case <ul><li>A 16-year-old girl with a H/O epidermolysis bullosa& recurrent mouth ulcers presented with chest pains on swallowing &painful oral lesions. </li></ul><ul><li>An upper endoscopy was performed </li></ul>
  4. 4. Epidermolysis Bullosa : <ul><li>Is an inherited disorder characterized by the formation of blisters after minor skin trauma. </li></ul><ul><li>Scarring may result. </li></ul><ul><li>This disorder can affect any epithelialized organ. </li></ul><ul><li>Skin Findings </li></ul><ul><li>Tense, fluid-filled blisters, erosions, crusts form in response to minimal trauma. </li></ul><ul><li>Scarring frequently occurs. </li></ul>
  5. 5. GIT features : <ul><li>Poor dentition </li></ul><ul><li>Esophageal strictures. </li></ul><ul><li>Malabsorption </li></ul><ul><li>Severe constipation. </li></ul><ul><li>Anal fissures. </li></ul><ul><li>Trauma from food boluses leads to bullae,ulceration, scarring of the esophageal mucosa with formation of strictures, more frequently in the proximal than the distal esophagus </li></ul><ul><li>Dysphagia is common. </li></ul><ul><li>Pyloric atresia associated with the junctional form& carries a very poor prognosis. </li></ul>
  6. 6. EB :Pathophysiology <ul><li>Mutations of genes encoding proteins located at epidermis/dermis, junction forming a link from basement membrane to the dermis. </li></ul><ul><li>3 forms are recognized. </li></ul><ul><li>1. Simplex: dominant mutations in genes controlling cytokeratins 5/14/tonofilaments& presents with blisters in the lowermost part of the keratinocytes. </li></ul><ul><li>2.The junctional form: recessive mutations in the laminin-5 (type XVII collagen), affecting hemidesmosomes in the dermis or 6/ 4 integrin genes , characterized by blisters in the lamina lucida. </li></ul><ul><li>3. Dystrophic form:dominant or recessive mutations in type VII </li></ul><ul><li>collagen, resulting in blisters beneath the lamina densa&other organs as esophagus, where these same proteins reside. </li></ul>
  7. 7. Management : <ul><li>Supportive. </li></ul><ul><li>Minimizing trauma with a soft diet, attention to wound care, adequate nutrition. </li></ul><ul><li>Antireflux measures /PPI may be helpful to minimize eso damage. </li></ul><ul><li>Transplantation of genetically modified epidermal stem cells to improve the adhesion properties of primary keratinocytes currently is investigated. </li></ul><ul><li>The risk of mucosal trauma from endoscopic procedures should be considered before proceeding. </li></ul><ul><li>Esophageal strictures dilated with balloons rather than bougies. </li></ul>
  8. 8. Mastocytosis: Case <ul><li>A 59-year-old woman with recurrent attacks of abdominal pain, nausea, vomiting& profound dyspnea comes into ER with chest tightness. </li></ul><ul><li>She had self-administered IM epinephrine without improvement. </li></ul><ul><li>In the ER, she was tachypneic with diffuse wheezes on exam. </li></ul><ul><li>She was placed on solumedrol IV. </li></ul><ul><li>The CXR was negative. </li></ul><ul><li>H/O mast cell activation syndrome. </li></ul><ul><li>Her skin showed patchy erythema on the face / arms. </li></ul>
  9. 9. Mastocytosis : Case
  10. 10. Mastocytosis :derma features <ul><li>Urticaria pigmentosa,diffuse cutaneous mastocytosis, solitary mastocytoma of the skin. </li></ul><ul><li>The yellow-tan macules involve the extremities, trunk, abdomen, but spare the palms, soles, scalp. </li></ul><ul><li>Biopsy reveals multifocal aggregates of mast cells </li></ul><ul><li>Cutaneous mastocytosis, usually is spontaneously regressive when it develops in childhood. </li></ul><ul><li>Patients with systemic mastocytosis generally are older &usually present with infiltration of multiple organs. </li></ul><ul><li>Cutaneous disease is present in only about half of all patients. </li></ul>
  11. 11. Mastocytosis :GIT features <ul><li>Infiltration of liver causes hepatomegaly, liver dysfunction, ascites </li></ul><ul><li>Histologic features include aggregates of mast cells both in sinusoids& periportal areas,but fibrosis is uncommon. </li></ul><ul><li>Intestinal involvement associated with nausea, vomiting, abd pain. </li></ul><ul><li>Malabsorption, diarrhea,weight loss, hypoalbuminemia are prominent in some patients. </li></ul><ul><li>Histamine release, increase gastric acid leading to PUD with a risk of bleeding/ perforation. </li></ul><ul><li>In systemic mastocytosis, common physical findings include splenomegaly, lymphadenopathy&bone pain/myalgia secondary to the infiltration of the musculoskeletal system&BM involvement, result in anemia& pancytopenia. </li></ul>
  12. 12. Mastocytosis : Management <ul><li>GI manifestations can be managed with interferon alfa& 2-chlorodeoxyadenosine. </li></ul><ul><li>The recent identification of kit / PDGFRA mutations have modified the therapeutic algorithm. </li></ul><ul><li>Although a subset of patients with kit juxtamembrane mutations (eg, K509I) appear to have a imatinib-responsive disease, the vast majority with a mutation at codon 816 may be resistant. </li></ul><ul><li>Symptomatic treatment of mast cell mediator release usually is managed with H1/H2- blockers & cromolyn sodium. </li></ul><ul><li>CSs are reserved for recurrent or refractory symptoms. </li></ul>
  13. 13. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease): Case <ul><li>A 68-year-old man with HHT was admitted with a decreasing Hb </li></ul><ul><li>His past history was notable for a partial lung resection of pulmonary (AVMs)& recent mild CHF. </li></ul><ul><li>He was noted to have telangiectases on the face& chest, a bruit in the right upper quadrant&dark brown stool positive for blood. </li></ul><ul><li>A CXR revealed large AVMs in the left lower lobe, as did the chest&abdominal CT) scans which also showed hepatic AVMs. </li></ul><ul><li>The patient underwent an upper endoscopy; bleeding medium-sized AVMs were seen in the duodenum&jejunum. </li></ul>
  14. 15. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease): <ul><li>HHT, a multisystem disease, genetically mediated disorder of fibrovascular tissue. </li></ul><ul><li>The definitive diagnosis based on the Curaçao criteria, require presence of at least 3 of the following 4 clinical features: </li></ul><ul><li>(1) Spontaneous, recurrent epistaxis. </li></ul><ul><li>(2) Telangiectases at characteristic sites as lips, oral cavity, fingers, or nose </li></ul><ul><li>(3) visceral lesions as cerebral or spinal AVMs, GI tract telangiectasias, pulmonary AVMs, hepatic AVMs </li></ul><ul><li>(4) A family history of HHT in a first-degree relative. </li></ul>
  15. 16. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease):Skin <ul><li>Telangiectases that may be punctate, linear, or spider-like on the upper body& in the mouth, including the tongue, nasal mucus membranes&nail beds. </li></ul><ul><li>They characteristically blanch partly with pressure but do not pulsate. </li></ul>
  16. 17. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease):GIT <ul><li>HHT should be considered in any patient with bleeding from the GI tract or with anemia& a history of epistaxis. </li></ul><ul><li>In any patient with bleeding, the gastroenterologist should examine the lips& tongue for telangiectases. </li></ul><ul><li>Telangiectases involve GITorgans in 11%–25%, with the stomach &small bowel being the source of bleeding more than the colon. </li></ul><ul><li>The manifestations of bleeding, as IDA, generally begin in the fifth decade. </li></ul><ul><li>The gastroenterologist also should recognize the variety of clinical manifestations that occur secondary to hepatic AVMs, including high-output CHF, portal hypertension& biliary ischemia. </li></ul>
  17. 18. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease):GIT <ul><li>The exact clinical manifestation depends on which vascular beds (hepatic artery, hepatic vein, portal vein) the predominant shunting is between (ie,hepatic artery to hepatic vein leads to high-output heart failure). </li></ul><ul><li>Juvenile polyposis may occur in patients with HHT& vice versa. </li></ul><ul><li>Patients with early onset GI bleeding should be screened for juvenile polyps given their malignant potential. </li></ul>
  18. 19. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease):GIT <ul><li>The most common symptom, epistaxis, clinically becomes prominent in puberty. </li></ul><ul><li>Recurrent epistaxis is managed conservatively with nasal ointment , tamponade, but local treatments including endonasal laser coagulation or argon plasma coagulation & septodermoplasty. </li></ul><ul><li>Finally, antifibrinolytics as aminocaproic acid/ tranexamic acid have met with some success. </li></ul>
  19. 20. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease):GIT <ul><li>GI involvement: there is an inverse relationship between the number of telangiectatic lesions in the gut&the hematocrit. </li></ul><ul><li>Capsule endoscopy has shown a 56% prevalence of telangiectases in the small bowel. </li></ul><ul><li>Because the bleeding generally is limited to slow oozing, the primary management should be frequent checks of the Hb on a weekly basis to identify patients who need transfusions if oral or intravenous iron is not sufficient to increase Hb to > 10 g/dL </li></ul><ul><li>Estrogen/progesterone should be tried </li></ul><ul><li>Argon plasma&embolization. </li></ul>
  20. 21. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease):GIT <ul><li>Pulmonary / cerebral complications including pulmonary hypertension, paradoxic emboli, air emboli, cerebral abscesses may come on silently secondary to pulmonary AVMs&need to be managed proactively. </li></ul><ul><li>In patients with pulmonary AVMs, routine antibiotic dental prophylaxis is recommended for both dental & endoscopic procedures. </li></ul><ul><li>Prophylactic management of the pulmonary AVMs by embolization or surgical resection should be considered when AVMs are : 3 mm. </li></ul><ul><li>Endothelin-receptor antagonists have been tried. </li></ul>
  21. 22. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease):GIT <ul><li>Patients with hepatic AVMs can present with HF, edema, increased liver function tests, ascites, variceal bleeding, or encephalopathy,managed intensively with medical means. </li></ul><ul><li>Embolization is used only for palliation given the incidence of hepatic necrosis. </li></ul><ul><li>Invasive procedures as liver biopsy or ERCP should be avoided given the respective risks for bleeding / sepsis. </li></ul><ul><li>When medical management fails, referral for a liver transplant used with increasing success. </li></ul><ul><li>Improvement in nose bleeds/telangiectases with the vascular endothelial growth factor antagonist, bevacizumab, with interferon, suggesti trial in HHT AVMs. </li></ul>
  22. 23. Melanoma: case <ul><li>A 92-year-old man presented with a 2-week history of dull, constant periumbilical pain associated with nausea, bilious emesis, , decreased appetite. </li></ul><ul><li>Physical examination revealed a soft abdomen with epigastric tenderness. </li></ul><ul><li>Abdominal radiographs revealed changes consistent with a small-bowel obstruction. </li></ul><ul><li>CT scan showed a small bowel mass with intussusception </li></ul><ul><li>Five years previously, the patient had had a malignant mole removed from his right forearm </li></ul>
  23. 24. Melanoma: case
  24. 25. Melanoma: <ul><li>Melanoma is a malignant tumor arising from melanocytes related to both genetic predisposition& sun exposure. </li></ul>
  25. 26. Melanoma:skin <ul><li>Superficial spreading melanoma is the most common type. </li></ul><ul><li>It generally presents as an asymmetric macule with irregular borders, color variation& an enlarging diameter to > 6 mm. </li></ul><ul><li>It usually is found on the trunk in men&on the legs in women from 30 to 50 years of age. </li></ul><ul><li>Nodular melanoma is less common & generally a blue- or blackcolored nodule that may ulcerate & develops rapidly over several months, generally on the trunk, head, or neck </li></ul>
  26. 27. Melanoma:GIT <ul><li>Skin for suspicious lesions should be an integral part of PE. </li></ul><ul><li>Melanoma is the 5th most common cancer in men& the 6th most common cancer in women. </li></ul><ul><li>Referral to a dermatologist is advised for any patient noted to have atypical, or a large number of, nevi. </li></ul><ul><li>RFs: fair skin with freckles, H/O intermittent sun burns& dysplastic nevi or melanoma. </li></ul><ul><li>Melanoma is the most common metastatic tumor to the GI, so any patient with H/O melanoma, even in the distant past& symptoms of anemia, IO&/or intussusception, bleeding, or abd pain should be evaluated for metastases. </li></ul><ul><li>Barium/CT may not detect all tumor deposits reliably. </li></ul>
  27. 28. Melanoma:management <ul><li>Surgical excision curative for stages I& II with no nodal or metastatic disease. </li></ul><ul><li>Stage III: evidence of either microscopic or macroscopic nodal disease , treated with wide excision/ nodal dissection; interferon-alfa 2b as adjuvant therapy. </li></ul><ul><li>Stage IV with metastases are treated with chemotherapy, radiation,immunotherapy, but the prognosis is very poor, with only 5% surviving 5 years. </li></ul><ul><li>Melanoma in the GI tract may be primary or secondary. </li></ul><ul><li>A primary melanoma can arise from any bowel site. </li></ul><ul><li>More commonly,melanoma is metastatic from a prior skin lesion. </li></ul>
  28. 29. Melanoma:management <ul><li>Importantly, metastases may present at the time of the primary diagnosis or decades later. </li></ul><ul><li>Metastatic deposits to the gut may be identified by using fluorodeoxy-glucose PET, which appears to offer greater diagnostic accuracy than CT/Ba. </li></ul><ul><li>Although the prognosis is very poor for metastases to the liver / GI tract, surgical resection has resulted in both efficacy in palliating symptoms as obstruction /bleeding & improved survival in select cases. </li></ul>
  29. 30. Hepatitis C: <ul><li>Chronic HCV is associated with extrahepatic manifestations, including dermatologic conditions as mixed cryoglobulinemia, porphyria cutanea tarda& lichen planus. </li></ul><ul><li>The efficacy of IFN on skin features are highly variable. </li></ul><ul><li>dermatologic side effects of IFN therapy are common, with or without HCV infection& may complicate assessment of HCV-associated dermatologic disorders. </li></ul><ul><li>Pruritic,eczematous lesions are most common& often resolve on completion of therapy without dosage alteration. </li></ul>
  30. 35. IBD: Dermatological features <ul><li>Skin - erythema nodosum 2-4%. </li></ul><ul><li>Pyoderma gangrenosum 1-2% </li></ul><ul><li>Mouth - aphthous ulcers 10%. </li></ul><ul><li>A wide variety of cutaneous conditions are associated with IBD. </li></ul><ul><li>In general, their course parallels the GI status,but can precede or follow the diagnosis of the IBD. </li></ul><ul><li>Dermatologists can help clinicians to reach the correct diagnosis & the best treatment approach, but treatment of the underlying IBD is essential for the control of the cutaneous associated conditions. </li></ul>
  31. 36. IBD: Dermatological features <ul><li>Seen in 20%, slightly higher in CD than in UC& include: </li></ul><ul><li>Pyoderma gangrenosum(PG). </li></ul><ul><li>Bowel-associated dermatosis-arthritis syndrome. </li></ul><ul><li>Cutaneous Crohn’s disease. </li></ul><ul><li>Erythema nodosum </li></ul><ul><li>Avariety of vasculitis. </li></ul>
  32. 37. IBD dermatological features: PG <ul><li>The most severe dermatologic manifestation. </li></ul><ul><li>Are ulcerating necrotic plaques on their lower extremities. </li></ul><ul><li>60% with PG have an associated disease, with Crohn’s being the most frequent but other diseases including RA,AML, MM& HIV. </li></ul><ul><li>Certain drugs, like G-CSF& interferon </li></ul><ul><li>2-10% with IBD will eventually develop PG. </li></ul><ul><li>Often parallels the severity of their disease,but may precede or follow episodes of IBD& may initially have a flare associated with IBD, eventually become chronic& protracted. </li></ul>
  33. 38. IBD dermatological features: PG <ul><li>Often have atypical presentations with pustular &necrotic flares. </li></ul><ul><li>PG tends to start with a single or multiple small pustular lesions that eventually evolve into large ulcerated lesions. </li></ul><ul><li>Another feature is pathergy: i.e. , new lesions triggered by trauma. </li></ul><ul><li>A pustular lesion triggered by trauma may not evolve into an ulcer &may be the only cutaneous sign of IBD. </li></ul><ul><li>The peristomal variant,develop adjacent to the colostomy. </li></ul>
  34. 39. IBD dermatological features: PG <ul><li>DD: </li></ul><ul><li>Infections: deep fungal infs, bacterial pyodermus, TB. </li></ul><ul><li>Vasculitis, Wegener’s granulomatosis, hallogenodermas, secondary to high ingestion of iodine or bromides present with suppurative ulcerated lesions resembling PG. </li></ul>
  35. 40. IBD dermatological features: PG <ul><li>Treatment of the associated disease is the critical point. </li></ul><ul><li>In IBD, infliximab is the treatment of choice </li></ul><ul><li>For patients with other associated conditions, the standard of care is systemic steroids, either oral prednisone or methyl-prednisolone, with cyclosporine or mycofenolate. </li></ul><ul><li>Other treatments include thalidomide andmycophenolate mofetil. </li></ul><ul><li>Other treatment: plasmapheresis, IV Ig,absorption apheresis. </li></ul><ul><li>Surgery as debridement and allografts avoided utill the lesions are quiescent because of pathergy. </li></ul><ul><li>Localized: treated topically with potent steroids or tacrolimus or intralesional triamcinolone. </li></ul>
  36. 42. IBD dermatological features: Bowel-Associated Dermatosis-Arthritis Syndrome (bowel bypass syndrome) <ul><li>Also be associated with IBD secondary to an overgrowth of bacteria: Streptococci , Dientamoeba fragilis , or E coli . </li></ul><ul><li>Present with flu-like symptoms. </li></ul><ul><li>Bacteria proteoglycan activate complement causing pap/pustules, severe tenosynovitis &pathergy of cutaneous lesions. </li></ul><ul><li>Microscopy shows multiple neutrophils & a low level of vasculitis. </li></ul><ul><li>Treatment is for the underlying IBD, with resection, if indicated. </li></ul><ul><li>Systemic steroids must be avoided, as may worsen the problem. </li></ul><ul><li>Probiotics as used for pouchitis& antibiotics: minocycline, erythromycin, or metronidazole, may be useful. </li></ul>
  37. 43. IBD dermatological features: Cutaneous CD. <ul><li>A granulomatous, noncaseating skin lesion separated from the GI tract by normal skin. </li></ul><ul><li>It is very rare: 20% have a negative GI history& only subsequently develop IBD. </li></ul><ul><li>The lesions may be adjacent to the GI tract at both ends; perioral or perianal, or more distant& noncontiguous metastatic lesions. </li></ul><ul><li>PPD &CXR done to differentiate from TB& sarcoidosis. </li></ul><ul><li>Trt: Metronidazole of choice& If only a few lesions, topical or intralesional steroids may be useful. </li></ul><ul><li>Ssulfasalazine/azathioprine being effective. </li></ul><ul><li>Surgical excision is often complicated by wound dehiscence. </li></ul>
  38. 44. IBD dermatological features: EN <ul><li>The most common complication of IBD, other than aphthous dermatitis. </li></ul><ul><li>Presents with multiple,painful, deep nodules on extremities </li></ul><ul><li>The nodules,unlike PG do not become fluctuant or ulcerated. </li></ul><ul><li>In some,may be large& highly inflamed, while in others minimal skin changes with only deep pain. </li></ul><ul><li>Occurs in 3–10% UC& 4–15% CD </li></ul><ul><li>The nodules tend to appear during the acute phase of IBD. </li></ul><ul><li>Unlike PG—a chronic, ongoing process—it is short-lived process. </li></ul><ul><li>DD: Srept inf, TB, Sarcoid. </li></ul>
  39. 45. IBD dermatological features: EN <ul><li>The treatment should be aimed at the triggering event. </li></ul><ul><li>NSAIDs like indomethacin, are often prescribed for 2 or 3 wk, along with bed rest, leg elevation, prednisone taper, intralesional or intramuscular triamcinolone in patients with severe flares. </li></ul><ul><li>Second-line therapy, rarely needed as colchicine, hydroxchloroquine, or dapsone. </li></ul>
  40. 46. Celiac dis dermatological features: <ul><li>Dermatitis herpetiformis is well known accompanying CD </li></ul><ul><li>DH: Itchy, blistering skin, rash usually on elbows, knees, buttocks, back, diagnosed with skin biopsy </li></ul><ul><li>Cutaneous,mucosal, nail, hair findings were detected in 74.5%, 27.3%, 20.0%,7.3% of patients, respectively. </li></ul><ul><li>The most prevalent dermatologic diagnosis was xerosis (69.1%). </li></ul><ul><li>No significant relationship was detected between the cutaneous findings& the duration of illness. </li></ul><ul><li>However, the duration was longer in patients with mucosal findings compared to those without mucosal findings. </li></ul><ul><li>It was found that all patients without cutaneous findings were on a strict gluten-free diet. </li></ul>
  41. 48. Celiac dis dermatological features: <ul><li>Pathophysiology: an abnormal small intestinal permeability allow the crossing of endogenous or exogenous antigens may provoke the immunological response, common immune mechanisms, vascular alterations & vitamin/aminoacid deficiency secondary to malabsorption. </li></ul>