Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign

Ad dress for Cor res pon den ce Fatma Derya Bulut, Adana City Training and Research Hospital, Clinic of Pediatric Metabolism and Nutrition, Adana, Turkey Phone: +90 532 743 27 18 E-mail: deryaozduran@yahoo.com ORCID: orcid.org/0000-0003-0529-2404 Re cei ved: 04.06.2020 Ac cep ted: 03.07.2020 Introduction Mucopolysaccharidosis (MPS) is a group of progressive lysosomal storage disorders caused by mutations of the genes encoding lysosomal enzymes that have a role in the degradation of glycosaminoglycans (GAG). MPS type-II is characterized by dermatan and heparan sulfate storage in all tissues due to iduronate sulfatase (IDS) enzyme deficiency caused by IDS gene mutations (1). It was first described in two brothers by Hunter (2) in 1917. Hunter syndrome (MPS type-II) is an X-linked inherited disease, whereas all the other types of MPS are autosomal recessively inherited. Although it is almost exclusively seen in males, there are a few rare female cases reported. Its incidence is estimated to be between 1:100,000 and 1:170,000 male births (3).