Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: A novel epidermal nevus syndrome

Marco Castori, Giorgio Annessi, Daniele Castiglia, Vitaliano Buffa, Andrea Paradisi, Piero Cascone, Giovanna Zambruno, Paola Grammatico, Mauro Paradisi

Research output: Contribution to journalArticlepeer-review

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 geneticmosaicism 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.

Original languageEnglish
Pages (from-to)25-31
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number1
DOIs
Publication statusPublished - Jan 2010

Keywords

  • Differential diagnosis
  • Eccrine proliferation
  • Mental retardation
  • Mosaicism
  • Postzygotic mutation
  • Skin atrophy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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