ABSTRACT
We report a case of Hunter' s syndrome with characteristic nodules on the upper back. The patient was a 7-year-old Korean boy who presented with ivory-colored papules and nodules on both sides of the scapula, pectoral regions and lateral aspects of the upper arms. These lesione are regarded as pathognomonic cutaneous markers for Hunter s syndrome. He also presented with truncal hypertrichosis, retarded growth, short neck, round face, claw like contractures of hands, multiple joint contractures, and a clear cornea. Severely elevated glycosaminoglycan levels were present in the patient s urine samples. The patient s 5-year-old brother had similar clinical features.
Subject(s)
Animals , Child , Child, Preschool , Humans , Male , Arm , Contracture , Cornea , Hand , Hoof and Claw , Hypertrichosis , Joints , Mucopolysaccharidosis II , Neck , Scapula , SiblingsABSTRACT
Piebaldism is a rare autosomal dominant genetic disorder characterized by localized and stationary hypomelanosis of skin and hair secondary to an absence of melanocytes in the involved skin. Depigmentation in piebalrlism shows a characteristic distribution that involves the forehead, ventral chest, abdomen, and extremities. Cases of piebaldism have been reported in association with extracutaneous abnormalities such as heterochromia irides, osteopathia striata, deafness, mental retardation, and Hirschsprung's disease. We report a case of piebaldism associated with strabismus and torticollis in a 6-year-old female patient. Piebaldism associated with strabismus and torticollis has not been reported in any previous literature.