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Melanocyte Stimulation in Focal Dermal Hypoplasia with Unusual Pigmented Skin Lesions: A Histologic and Immunohistochemical Study
Author(s) -
Kanitakis Jean,
Souillet AnneLaure,
Butnaru Cristina,
Claudy Alain
Publication year - 2003
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1046/j.1525-1470.2003.20313.x
Subject(s) - medicine , immunohistochemistry , melanocyte , pathology , stimulation , anatomy , melanoma , cancer research
Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis transmitted in a dominant, X‐linked mode. It is characterized clinically by atrophic skin lesions, multiple mucocutaneous papillomas, hyperpigmented linear skin lesions, and several skeletal and visceral anomalies. We followed over several years a female patient with FDH, who had the characteristic atrophic cutaneous lesions and periorificial papillomas, who developed at the periphery of atrophic lesions peculiar lentigo‐like pigmented macules. Immunohistologically, increased melanin deposits within the epidermis and the dermis were seen, produced by stimulated epidermal melanocytes expressing the HMB‐45 antigen. These findings further support the contention that cutaneous lesions of FDH may be progressive, and provide a physiopathologic basis for understanding the hyperpigmented lesions of FDH.