title: Melanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study.
abstract: 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.
authors.affiliation: Department of Dermatology, Ed. Herriot Hospital, Lyon, France. kanitakis@lyon.inserm.fr
authors.forename: Jean
authors.initials: J
authors.lastname: Kanitakis
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Souillet
authors.forename: Cristina
authors.initials: C
authors.lastname: Butnaru
authors.forename: Alain
authors.initials: A
authors.lastname: Claudy
mesh_terms: D000293:Adolescent; D001707:Biopsy, Needle; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000150:complications / Q000473:pathology*; D005500:Follow-Up Studies; D006801:Humans; D017495:Hyperpigmentation / Q000150:complications / Q000473:pathology*; D007150:Immunohistochemistry; D007911:Lentigo / Q000150:complications / Q000473:pathology*; D008544:Melanocytes / Q000473:pathology; D018570:Risk Assessment; D012720:Severity of Illness Index