Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a RecurrentAllele in Colombia.

Source: PubMed, NCBI / U.S. National Library of Medicine

The potential association of congenital dermal melanocytosis as a marker for lysosomal storage disease in infancy is rarely studied. A few cases of congenital dermal melanocytosis in association with lysosomal storage diseases have been reported. GM1 gangliosidosis type 1 and Hurler syndrome are the most common underlying lysosomal disorders associated with dermal melanocytosis. We present two non-relative patients with Hurler's Syndrome who exhibited cutaneous manifestations. Both cases had a recurrent genetic variant c.1045G>T (p.Asp349Tyr) in thegene, located in a highly conserved amino acid position. We encourage the role of cutaneous findings in early suspicion and detection of inborn errors of metabolism, as well as differential diagnoses in a newborn with this finding.