title: Hyperpigmented macules and patches in a patient with GM1 type 1 gangliosidosis.
abstract: We report a case of a 10-month-old male infant with GM1 type 1 gangliosidosis who also had hyperpigmented macules and patches. Light and electron microscopic findings correlated with previously published reports on findings in skin biopsy specimens of patients with lipid storage disorders. The hyperpigmented macules are most likely mongolian spots. A differential diagnosis of these lesions is discussed.
authors.affiliation: Department of Dermatology, Medical College of Georgia, Augusta 30912-7400.
authors.forename: L C
authors.initials: LC
authors.lastname: Selsor
authors.forename: J L
authors.initials: JL
authors.lastname: Lesher
mesh_terms: D005677:G(M1) Ganglioside; D005733:Gangliosidoses / Q000150:complications / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D010859:Pigmentation Disorders / Q000150:complications / Q000473:pathology*; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure
chemical_list: D005677:G(M1) Ganglioside