Elastosis perforans serpiginosa: causes and associated disorders
Tóm tắt
Elastosis perforans serpiginosa (EPS) is an uncommon cutaneous disorder classified under perforating diseases (PD); a group of dermatoses with transepidermal extrusion of collagen or elastic tissue. Three EPS subtypes have been reported that differ according to aetiology, associated diseases, and histopathological features. Herein, we report a systematic review of the literature, as well as a case of a 41-year-old woman with Wilson disease treated with penicillamine (PCM), who developed EPS after 11 years of drug intake. To analyse and characterise EPS subtypes based on an evaluation of potential different histological patterns. A systematic literature search in Pubmed was performed to identify articles describing EPS. Apeculiar histological patternwas identified in EPS PCM-related patients, either in affected or unaffected skin samples. Using specific elastic fibre stains (Verhoeff-van Gieson, Weigert, and Orcein), fibres appeared with an irregular surface with thorn-like protrusion, probably due to weaker fibre cross-links, making them unable to re-expand after contraction along their long axis. Interestingly, similar histological patterns have also been reported in elastic tissues of vessel walls of the lungs and upper respiratory tract, joints, visceral adventitia, and kidney. A distinctive histological pattern of PCMrelated EPS is observed in affected and normal-appearing skin, as well as extracutaneous elastic tissue, suggesting serious potential widespread drug-induced systemic elastolytic damage.
Tài liệu tham khảo
Lewis KG, Bercovitch L, Dill SW, et al. Acquired disorders of elastic tissue: part I. Increased elastic tissue and solar elastotic syndromes. J Am Acad Dermatol 2004; 51: 1–21.
Lutz W. Keratosis follicularis serpiginosa. Dermatologica 1953; 106: 318–9.
Miescher G. An additional case of elastoma intrapapillare perforans verruciforme (keratosis follicularis serpiginosa Lutz). Hautarzt 1956; 7: 194–7.
Rapini RP. Perforating diseases. In: Dermatology 3rd ed. Bolognia JL, Jorizo JL, Schaffer JV. Elsevier, 2012; 96: 1599–1605.
Khatu SS, Dhurat RS, Nayak CS, et al. Penicillamine-induced elastosis perforans serpiginosa with abnormal’ lumpy-bumpy’ elastic fibers in lesional and non-lesional skin. Indian J Dermatol Venereol Leprol 2011; 77: 55–8.
Ranucci G, Di Dato F, Leone F, et al. Penicillamine-induced Elastosis Perforans Serpiginosa in Wilson’s disease: is useful switching to zinc? J Pediatr Gastroenterol Nutr 2017; 64: e72–3.
Menzies S, Kirby B. Drug-induced Elastosis Perforans Serpiginosa. BMJ Case Rep 2015; 2015.
Lewis BK, Chern PL, Stone MS. Penicillamine-induced elastosis of the mucosal lip. J Am Acad Dermatol 2009; 60: 700–3.
Tovaru S, Parlatescu I, Dumitriu AS, et al. Oral complications associated with D-penicillamine treatment for Wilson disease: a clinicopathologic report. J Periodontol 2010; 81: 1231–6.
Bennett RA, Harbilas E. Wilson’s disease with aseptic meningitis and penicillamine-related cheilosis. Arch Intern Med 1967; 120: 374–6.
Price RG, Prentice RS. Penicillamine-induced elastosis perforans serpiginosa. Tip of the iceberg? Am J Dermatopathol 1986; 8: 314–20.
Dalziel KL, Burge SM, Frith PA, et al. Elastic fiber damage induced by low-dose penicillamine. Br J Dermatol 1990; 123: 305–12.
Gebhart W, Bardach H. The’ lumpy-bumpy’ elastic fiber. A marker for long-term administration of penicillamine. Am J Dermatopathol 1981; 3: 33–9.
Koraishy FM, Cohen RA, Israel GM, et al. Cystic kidney disease in a patient with systemic toxicity from long-term D-penicillamine use. Am J Kidney Dis 2013; 62: 806–9.
Bardach H, Gebhart W, Niebauer G, et al. Penicillamine-induced elastosis perforans serpiginosa and pulmonary cyst in Wilson’s disease. Wien Klin Wochenschr 1981; 93: 117–22.
Hill VA, Seymour CA, Mortimer PS. Penicillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson’s disease. Br J Dermatol 2000; 142: 560–1.
Manohar MB, Boldy DA, Bryan RL, et al. Penicillamine-induced changes in elastic tissue of the upper respiratory tract. J Laryngol Otol 1993; 107: 62–4.
Ratnavel RC, Norris PG. Penicillamine-induced elastosis perforans serpiginosa treated successfully with isotretinoin. Dermatology 1994; 189: 81–3.
Bécuwe C, Dalle S, Ronger-Savlé S, et al. Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson’s disease with penicillamine. Dermatology 2005; 210: 60–3.
Outland JD, Brown TS, Callen JP. Tazarotene is an effective therapy for elastosis perforans serpiginosa. Arch Dermatol 2002; 138: 169–71.
Burrows NP, Lovell CR. Disorders of connective tissue. In: Rook’s Textbook of Dermatology. 8th ed. Burns T, Breathnach S, Cox N, Griffiths C. Oxford: Wiley-Blackwell Scientific Publications, 2010; 45: 65–6.
Iozumi K, Nakagawa H, Tamaki K. Penicillamine-induced degenerative dermatoses: report of a case and brief review of such dermatoses. J Dermatology 1997; 24: 458–65.
Sahn EE, Maize JC, Garen PD, et al. D-penicillamine-induced elastosis perforans serpiginosa in a child with juvenile rheumatoid arthritis. Report of a case and review of literature. J Am Acad Dermatol 1989; 20: 979–88.
Liang J, Wang D, Xu J, et al. Two cases of D-penicillamine-induced elastosis perforans serpiginosa. Indian J Dermatol Venereol Leprol 2016; 82: 452–4.
Bardach, Gebhart W, Niebauer G. “Lumpy-bumpy” elastic fibers in the skin and lungs of a patient with a penicillamine-induced elastosis perforans serpiginosa. J Cutan pathol 1979; 6: 243–52.
Na SY, Choi M, Kim MJ, et al. Penicillamine-induced elastosis perforans serpiginosa and cutis laxa in a patient withWilson’s Disease. Ann Dermatol 2010; 22: 468–71.
Wang D, Liang J, Xu J, et al. Effective treatment of D-penicillamine induced elastosis perforans serpiginosa with ALA-PDT. Photodiagnosis Photodyn Ther 2015; 12: 140–2.
Chabra IS, Grandinetti LM. Asymptomatic annular plaques on the neck. Cutis 2014; 94: E1–3.
Chuang Y, Yao CA, Chiu T, et al. D-Penicillamine-induced elastosis perforans serpiginosa with involvement of glans penis. Dermatologica Sinica 2014; 32: 93–6.
Kelly SC, Purcell SM. Imiquimod therapy for elastosis perforans serpiginosa. Arch Dermatol 2006; 142: 829–30.
Rosenblum GA. Liquid nitrogen cryotherapy in case of elastosis perforans serpiginosa. J Am Acad Dermatol 1983; 8: 718–21.
Atzori L, Pinna AL, Pau M, et al. D-penicillamine elastosis perforans serpiginosa: Description of two cases and review of the literature. Dermatol Online J 2011; 17:3.
Ramírez-Bellver JL, Bernárdez C, Macías E, et al. Dermoscopy and direct immunofluorescence findings of elastosis perforans serpiginosa. Clin Exp Dermatol 2016; 41: 667–70.
Vearrier D, Buka RL, Roberts B, et al. What is standard of care in the evaluation of elastosis perforans serpiginosa? A survey of pediatric dermatologists. Pediatr Dermatol 2006; 23: 219–24.
Yao XY, Wen GD, Zhou C, et al. D-penicillamine-induced Elastosis Perforans Serpiginosa. Chin Med J 2017; 130: 2013–4.
Ashida M, Okubo Y, Iwanaga A, et al. No rubbing, no elastosis perforans perforans serpiginosa. J Dermatol 2017; 44: e202–3.
Castro Pinho A, Cardoso JC, Gouveia M, et al. Elastosis perforans serpiginosa and Wilson disease: a rare but predictable consequence of long-term therapy with D-penicillamine. Acta Med Port 2016; 29: 227–30.
Thwaites PA, Khan SA, Asadi K, et al. Elastosis perforans serpiginosa in a patient with Wilson’s disease. Lancet Gastroenterol Hepatol 2017; 2:144.
Langeveld-Wildschut EG, Toonstra J, van Vloten WA, et al. Familial elastosis perforans serpiginosa. Arch Dermatol 1993; 129: 205–7.
Fujimoto N, Tajima S, Ishibashi A. Elastin peptides induce migration and terminal differentiation of cultured keratinocytes via 67 kDa elastin receptor in vitro: 67 kDa elastin receptor is expressed in the keratinocytes eliminating elastic materials in elastosis perforans serpiginosa. J Invest Dermatol 2000; 115: 633–9.
Bergman R, Friedman-Birnbaum R, Hazaz B. A direct immunofluorescence study in elastosis perforans serpiginosa. Br J Dermatol 1985; 113: 573–9.
Neri I, Gurioli C, Raggi MA, et al. Detection of D-penicillamine in skin lesions in a case of dermal elastosis after a previous longterm treatment for Wilson’s disease. J Eur Acad Dermatol Venereol 2015; 29: 383–6.
Carlesimo M, Narcisi A, Cortesi G, et al. An 18-year follow-up of a case of D-penicillamine-induced Elastosis perforans serpiginosa. Int J Immunopathol Pharmacol 2011; 24: 257–9.
Rosen LB, Muellenhoff M, Tran TT, et al. Elastosis perforans serpiginosa secondary to D-penicillamine therapy with coexisting cutis laxa. Cutis 2005; 76: 49–53.
Meyrick Thomas RH, Kirby JD. Elastosis perforans serpiginosa and pseudoxanthoma elasticum-like skin change due to D-penicillamine. Clin Exp Dermatol 1985; 10: 386–91.
Hellriegel S, Bertsch HP, Emmert S, et al. Elastosis perforans serpiginosa: a case of a penicillamine-induced degenerative dermatosis. JAMA Dermatol 2014; 150: 785–7.
Amichai B, Rotem A, Metzker A. D-penicillamnie-induced elastosis perforans serpiginosa and localized cutis laxa in a patient with Wilson’s disease. Isr J Med Sci 1994; 30: 667–9.
Polańska A, Bowszyc-Dmochowska M, Żaba RW, et al. Elastosis perforans serpiginosa: a review of the literature and our own experience. Postepy Dermatol Alergol 2016; 33: 392–5.
Pavithra S, Sanath R, Vishal B, et al. D-penicillamine induced elastosis perforans serpiginosa mimicking acne keloidalis nuchae. Indian J Dermatol 2011; 56: 449–50.
Poon E, Mason GH, Oh C. Clinical and histological spectrum of elastotic changes induced by penicillamine. Australas J Dermatol 2002; 43: 147–50.
Essigmann WK. Multiple side effects of penicillamine therapy in one patient with rheumatoid arthritis. Ann Rheum Dis 1982; 41: 617–20.
Devillère M, Ingen-Hosz-Oro S, Weber N, et al. D-penicillamineinduced elastosis perforans serpiginosa. Ann Dermatol Venereol 2007; 134: 799–800.
Pass F, Goldfischer S, Sternlieb I, et al. Elastosis perforans serpiginosa during penicillamine therapy for Wilson disease. Arch Dermatol 1973; 108: 713–5.
Abel M. Elastosis perforans serpiginosa associated with penicillamine. Arch Dermatol 1977; 113: 1303.
Starcher B, Hill CH, Matrone G. Importance of dietary copper in the formation of aortic elastin. J Nutr 1964; 82: 318–22.
Smith DW, Weissman N, Carnes WH. Cardiovascular studies on copper deficient swine. XII. Partial purification of a soluble protein resembling elastin. Biochem Biophys Res Commun 1968; 31: 309–15.
Kirsch N, Hukill PB. Elastosis perforans serpiginosa induced by penicillamine. Arch Dermatol 1977; 113: 630–5.
Shields GS, Coulson WF, Kimball DA, et al. Studies on copper metabolism. 32._Cardiovascular lesions in copper-deficient swine. Am J Pathol 1962; 41: 603–21.
Junker P, Helin G, Jensen BA, et al. D-penicillamine-induce angiopathy in rats: changes in aortic collagen, glycosaminoglycans, DNA, RNA in rats treated with D-penicillamine. Atheroclerosis 1982; 45: 17–31.
Waisman J, Carnes WH. Cardiovascular studies on copperdeficient swine: x. The fine structure of the defective elastic membranes. Am J Pathol 1967; 51: 117–35.
Ishak R, Abbas O. Penicillamine revisited: historic overview and review of the clinical uses and cutaneous adverse effects. Am J Clin Dermatol 2013; 14: 223–33.
Wilhem KP, Wolff HH. Penicillamin-induced elastosis perforans serpiginosa. Hautarzt 1994; 45: 45–7.
Pavithra S, Sanath R, Vishal B, Pai GS. D-penicillamine induced elastosis perforans serpiginosa mimicking acne keloidalis nuchae. Indian J Dermatol 2011; 56: 449–50.
Rath N, Bhardwaj A, Kar HK, et al. Penicillamine-induced pseudoxanthoma elasticum with elastosis perforans serpiginosa. Indian J Dermatol Venereol Leprol 2005; 71: 182–5.
Medici V, Rossaro L, Sturniolo GC. Wilson disease. A practical approach to diagnosis, treatment and follow-up. Dig Liver Dis 2007; 39: 601–9.