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Report of an infant with GM 1 gangliosidosis type I and extensive and unusual mongolian spots
Author(s) -
WEISSBLUTH MARC,
ESTERLY NANCY B.,
CARO WILLIAM A.
Publication year - 1981
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1981.tb00045.x
Subject(s) - histiocyte , dermis , scalp , pathology , biopsy , skin biopsy , medicine , dermatology
Summary An infant with GM 1 gangliosidosis was found to have an eruption at birth consisting of extensive and unusual slate blue macules resembling mongolian spots. All areas of skin were involved except face, scalp, palms, and soles. A biopsy of a macule obtained at 5 months of age demonstrated melanocytic cells in the dermis consistent with mongolian spot but also a perivascular histiocytic infiltrate. At 8 months of age, absence of β‐galactosidase activity was documented in both peripheral leukocytes and skin fibroblasts confirming the diagnosis of GM 1 gangliosidosis. The dermal histiocytic cells noted on skin biopsy were interpreted as a manifestation of this storage disease. The coexistence of the hyperpigmented lesions and the heritable enzyme defect was believed to be coincidental.