Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: A novel epidermal nevus syndrome
✍ Scribed by Marco Castori; Giorgio Annessi; Daniele Castiglia; Vitaliano Buffa; Andrea Paradisi; Piero Cascone; Giovanna Zambruno; Paola Grammatico; Mauro Paradisi
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 310 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
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. © 2009 Wiley‐Liss, Inc.