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ABNORMALITIES IN DERMAL CONNECTIVE TISSUE

ABNORMALITIES IN DERMAL CONNECTIVE TISSUE. Erik Austin, D.O., M.P.H. Elastosis perforans serpiginosa – Serpiginous arrangement of confluent, keratotic papules on the arms, face/neck, legs. Keratotic papules of EPS Typical site affected = neck. Elastosis perforans serpiginosa EPS.

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ABNORMALITIES IN DERMAL CONNECTIVE TISSUE

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  1. ABNORMALITIES INDERMAL CONNECTIVE TISSUE Erik Austin, D.O., M.P.H.

  2. Elastosis perforans serpiginosa – Serpiginous arrangement of confluent, keratotic papules on the arms, face/neck, legs

  3. Keratotic papules of EPSTypical site affected = neck

  4. Elastosis perforans serpiginosaEPS • MC in young adults with a M:F ratio of 4:1 • Runs a variable course of 6 mos to 5 years with spontaneous resolution • Associated with: Down Syndrome, Ehlers-Danlos, osteogenesis imperfecta, Marfan’s, Rothmund-Thomson, acrogeria, systemic sclerosis • Tx = LN2, Penicillamine

  5. Annular plaques of EPS • Atrophic scars often form

  6. Hyperelastic epidermis that clutches the increased dermal elastic fibers like a claw EPS

  7. Transepidermal elimination of neutrophils and elastic fibers from the dermis through a channel in the epidermis EPS

  8. Reactive perforating collagenosis (RPC)Keratotic papules on upper extremity, face or buttocks

  9. Reactive perforating collagenosisRPC • Rare, familial, non-pruritic skin disorder • Lesions begin in 2nd decade • Involution occurs after 6-8 weeks, with new crops appearing for years • May be a reaction to trauma • Acquired form may be assoc. w/systemic dz • TX = treat underlying disease

  10. Pseudoxanthoma elasticum (PXE) • Yellow papules, calcified plaques, sagging skin; chicken skin

  11. Pseudoxanthoma elasticumPXE • Inherited disorder of the skin, eyes, and cardiovascular system • Has recessive and dominant inheritance • Exaggerated nasolabial folds is characteristic • Involvement of the cardiovascular system occurs with a propensity to hemorrhage

  12. Mucosal lesions • Retinal change = Angioid streaks; in up to 85%

  13. Pseudoxanthoma elasticumPXE • Mitral valve prolapse, 71% of 14 pts • Young pt w/hypertension = r/o PXE • Histo: mid-dermis w/elastic fibers that are swollen and granular - “raveled wool” • No distinctive therapy • Limit dietary calcium and phosphorus

  14. Histopathology of PXE • A. calcium deposits on elastic fibers in advanced PXE • B. irregularly clumped elastic fibers, Verhoeff van Giesson

  15. Perforating calcific elastosis • Acquired, localized disorder • Frequently found in obese, multiparous, middle-aged women • Yellowish, lax, well circumscribed, reticulated or cobblestones plaques occur in the periumbilical region with keratotic papules

  16. Perforating calcific elastosis • Shares features with PXE, without systemic features • Trauma of pregnancy, obesity or surgery promote elastic fiber degeneration • No effective therapy

  17. Ehlers-Danlos syndromes • A group of genetically distinct disorders characterized by excessive stretchability and fragility of the skin • Tendency toward easy scar formation, calcification of the skin to produce, pseudotumors, and hyperextensibility of the joints

  18. Clinical features of Ehlers-Danlos syndrome

  19. Two types of growths seen with EDS • Molluscum pseudotumor = a soft fleshy nodule seen in areas of trauma • Spheroids = hard subcutaneous nodules that become calcified, ?Result of fat necrosis

  20. Types I, II, III and one subtype each of types of IV, VII and possibly VIII = AD • One subtype of IV, VI, VII, and X = AR • Type V = X-linked inheritance • Treatment is supportive • Avoidance of trauma

  21. Marfan syndrome • AD • Skeletal, cardiovascular, and ocular involvement • Important abnormalities include: tallness, loose-joints, a dolichocephalic skull, high arched palate, arachnodactyly, pigeon breast, pes planus, poor muscular tone, large deformed ears

  22. Ascending aortic aneurysm and mitral valve prolapse are commonly seen • Ectopic lentis and striae • Gene defect = chromosome 15 • Abnormal elastic tissue in fibrillin 1 and fibrillin 2

  23. Cutis Laxa – loose, hanging skin – usually entire integument is involved

  24. Cutis laxa (generalized elastosis) • AD = primarily cutaneous, good prognosis • AR = significant internal involvement, die young • X-linked recessive = occipital horn syndrome • Nonfamilial forms have been described • May be associated with an underlying disease or inflammatory skin process • Mid-dermal elastosis is an acquired, nonfamilial condition affecting primarily young women, cause unknown • Tx = disappointing; surgery is unsuccessful

  25. Cutis laxa (generalized elastosis) • Premature aging, severe pulmonary emphysema, and fragmentation of dermal elastic fibers

  26. Blepharochalasis • Lax eyelid skin due to swelling of lids • Uncommon • AD • Lack of elastic fibers, and abundant IgA deposits have been demonstrated • Ascher Syndrome = progressive enlargement of the upper lip and blepharochalasis / treatment is surgical

  27. Anetoderma (macular atrophy) • A group of disorders characterized by looseness of the skin due to loss of elastic tissue

  28. Anetoderma (macular atrophy)

  29. Anetoderma – macular atrophy and atrophic plaques – buttonhole sign. Typical location: trunk, arms, shoulders, thighs

  30. Anetoderma: decreased elastic fibers in the papillary and reticular dermis

  31. Striae rubra, striae alba: depressed lines or bands

  32. Striae distensae • Can occur secondary to pregnancy or after sudden weight gain or muscle mass • Associated with Cushing’s syndrome and • Prolonged application of topical steroids • Overtime striae become less noticeable • Tx = topical tretinoin; vascular lasers

  33. Linear focal elastosis(elastotic striae) • Asymptomatic, palpable, striaelike yellow line of the middle and lower back • Distinguished from striae in that there is no depression

  34. Acrodermatitis chronica atrophicans • Acquired diffuse thinning of the skin • Reddish appearance on extensor surfaces • Progresses to smooth , soft, atrophic skin • Results from infection with Borrelia

  35. Osteogenesis imperfecta • Affects: bones, joints, eyes, ears, and skin • types I-IV, I and IV = AD • II and III = AD/AR • 50% are type I • type II is lethal within 1st week of life • Brittle bones, fractures occur early in life, sometimes in utero • Loose-jointedness and dislocations

  36. Osteogenesis imperfecta • Blue sclera • Deafness • Thin skin; atrophic scars • EPS has associated

  37. Osteogenesis imperfecta • Defect is abnormal collagen synthesis, resulting in type I collagen of abnormal structure • Major causes of death = respiratory failure and head trauma • Type I and IV have a normal life span • TX = Pamidronate

  38. Homocystinuria Inborn error in the metabolism if methionine • Homocystine in the urine and CT abnormalities • cystathionine synthetase deficient • Genu valgum, kyphoscoliosis, pigeon breast, frequent fractures

  39. Homocystinuria • Facial skin has a characteristic flush • Other skin is blotchy red • Hair is fine, sparse and blonde • Teeth are irregularly aligned • Downward dislocations of lens • TX = hydroxocobalamin and cyanocobalamin – variable results

  40. ERRORS IN METABOLISM

  41. SYSTEMIC AMYLOIDOSISprimary systemic amyloidosis • Involves mesenchymal tissue, the tongue, heart, gastrointestinal, and skin • Cutaneous manifestations in 40% • Amyloid fibril proteins are composed of AL • Derived from immunoglobulin light chains • 90% will have fragment in urine and serum

  42. SYSTEMIC AMYLOIDOSISprimary systemic amyloidosis • Waxy, firm, flat-topped or spherical papules • Coalesce to form nodules and plaques • Eyes, nose, mouth, and mucocutaneous junctions are commonly involved • Purpuric lesions and ecchymosis (15%) • Results from amyloid infiltration of vessels

  43. SYSTEMIC AMYLOIDOSISprimary systemic amyloidosis • Glossitis with macroglossia (20%) • May cause dysphagia • Bullous disease is rare and scarring • Subepidermal: DDx PCT and EBA

  44. SYSTEMIC AMYLOIDOSISprimary systemic amyloidosis • Systemic findings: peripheral neuropathies, arthropathy, GI bleeding, cardiac disease • Prognosis is poor, median survival 13 mos, 5 mos in myeloma associated cases • Treatment is difficult = melphalen, prednisone, hematopoietic stem cell transplantation

  45. primary systemic amyloidosis • Macroglossia with dental impression of the tongue

  46. Periorbital ecchymosis, “raccoon sign” primary systemic amyloidosis

  47. primary systemic amyloidosis • Numerous waxy and translucent papules

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