Elastose perfurante serpiginosa em portadora da síndrome de Down

Abstract

Elastosis perforans serpiginosa is a rare, primary perforating dermatosis, frequently associated with certain genetic diseases and characterized by the transepidermal extrusion of elastic fibers. The present case report describes this dermatosis in a 19-year old female patient with Down's syndrome, who presented with asymptomatic erythematous, keratotic papules in an arciform pattern, located on her right forearm and knee, which had been present for five years. Following histopathological confirmation, treatment with cryotherapy was initiated, resulting in partial remission of the lesions. Keywords: Conjunctive tissue; Down's syndrome; Elastic tissue; Elastic tissue abnormalities Resumo: A elastose perfurante serpiginosa é dermatose perfurante primária incomum, frequentemente associada a determinadas doenças genéticas e caracterizada por eliminação transepidérmica de fibras elásticas. Relata-se um caso raro dessa dermatose em paciente feminina de 19 anos, portadora da sín-drome de Down, que apresentava pápulas eritematoceratóticas em arranjo arciforme, localizadas no antebraço e joelho direitos, assintomáticas, com cinco anos de evolução. Após confirmação histopatológica, foi iniciado tratamento com crioterapia, ocorrendo remissão parcial das lesões.

Elastose Perfurante Serpiginosa e Doença de Wilson: Uma Consequência Rara, mas Previsível da Terapêutica a Longo Prazo com D-Penicilamina

“…1,11 Além da elastose dérmica a D-penicilamina pode induzir elastose sistémica, com dano às fibras elásticas das artérias, mucosa oral, trato respiratório superior, pulmão, ou endocárdio, gerando complicações potencialmente graves, como formações aneurismáticas e cistos pulmonares.…”

Elastosis perforans serpiginosa: a review of the literature and our own experience

“…That group of diseases also includes reactive perforating collagenosis, perforating folliculitis or Kyrle disease. In EPS, protrusions of altered elastic fibers and other connective tissue material through the papillary layer and epidermis (called transepithelial elimination) clinically manifest as small papules arranged in an annular pattern [1, 2]. …”

“…In 1953, Lutz described the morphology of EPS and named it serpiginosa follicular keratosis . In 1955, Miescher showed that the extruded material contains elastin and suggested the term elastomer intrapapillare perforans veruciforme , which in 1958, Dammert and Putkonem changed into EPS [1, 2]. …”

“…Elastosis perforans serpiginosa is considered as mild dermatosis, which is not accompanied by involvement of other organs [2]. The disease prevalence has not been clearly specified so far but this is not a condition commonly found in routine clinical practice.…”

“…It is believed that 90% of EPS cases are patients before the age of 30, although 5-year-old and 89-year-old patients have been reported in the literature. Elastosis perforans serpiginosa more often affects men and only 25% of cases were detected among women [2, 3]. …”