Melanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study.
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.
Kanitakis
Jean
J
Department of Dermatology, Ed. Herriot Hospital, Lyon, France. kanitakis@lyon.inserm.fr
Souillet
Anne-Laure
AL
Butnaru
Cristina
C
Claudy
Alain
A
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