Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots

MARC WEISSBLUTH*, NANCY B. ESTERLY, William Allan Caro

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

An infant with GM1 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 GM1 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.

Original languageEnglish (US)
Pages (from-to)195-200
Number of pages6
JournalBritish Journal of Dermatology
Volume104
Issue number2
DOIs
StatePublished - Jan 1 1981

ASJC Scopus subject areas

  • Dermatology

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