Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome.
Am J Med Genet A
; 152A(1): 25-31, 2010 Jan.
Article
em En
| MEDLINE
| ID: mdl-20034083
ABSTRACT
Epidermal nevus syndrome is a clinically variable and genetically heterogeneous group of mosaic conditions characterized by the concurrence of extensive epidermal nevus with additional cutaneous and extracutaneous manifestations. This term groups together well-characterized clinical entities, as well as dozens of apparently unique associations, which need further delineation. We report on a 23-year-old woman presenting the previously undescribed combination of widespread eccrine proliferation, multiple facial and oral pox-like lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation. The patient has a healthy monozygotic twin. The eccrine proliferation is intermingled with areas of unaffected skin with a linear/segmental distribution on the limbs. The clinical presentation of such a complex phenotype fits well with the genetic mosaicism theory. The histologic findings, consisting of proliferation of immature to well-formed eccrine duct-like structures located in the deep dermis and interspersed with an abundant fibrous stroma constituted of horizontally oriented collagen fibers, seem a possible hallmark of this condition.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cicatriz
/
Blefarofimose
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Glândulas Écrinas
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Gengiva
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Nevo
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article