title: Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI.
abstract: Dermal melanocytosis (DM) is described as the presence of ectopic melanocytes in the dermis and could be a normal cutaneous finding. However, diffuse DM or extensive Mongolian spots must be considered as an early sign of neurometabolic diseases, in particular lysosomal storage disorders. The presence of extensive DM should alert the physician to the presence of such disorders, making early diagnosis possible. We describe for the first time the presence of DM in two patients with Sandhoff disease and mucopolysaccharidosis VI.
authors.affiliation: Department of Pediatrics, Children's Medical Center, Tehran, Iran.
authors.forename: Mahmoud Reza
authors.initials: MR
authors.lastname: Ashrafi
authors.forename: Alireza
authors.initials: A
authors.lastname: Tavasoli
authors.forename: Shadi
authors.initials: S
authors.lastname: Shiva
authors.forename: Nima
authors.initials: N
authors.lastname: Parvaneh
authors.forename: Banafshe
authors.initials: B
authors.lastname: Tamizifar
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008544:Melanocytes / Q000473:pathology*; D049328:Mongolian Spot / Q000175:diagnosis*; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis*; D011379:Prognosis; D018570:Risk Assessment; D012494:Sampling Studies; D012497:Sandhoff Disease / Q000175:diagnosis*; D012878:Skin Neoplasms / Q000175:diagnosis*