Waardenburg Syndrome: Report of a Type III Family Case

Authors: Caroline Baima de Melo*, Marília Medeiros de Sousa Santos, Elaine Crystine Vieira de Paiva and Antônio Renê Diógenes de Sousa

DOI: 10.23880/cdoaj-16000210

Volume 5, Issue 2

Abstract

Introduction: Waardenburg syndrome is an autosomal dominant condition, caused by changes in survival, proliferation, migration and/or differentiation of precursors of melanocytes. The most frequent detections are dystopia canthorum, sinofris, broad nasal base, pigmentary alterations of the iris and skin, congenital deafness and frontal white wick. It can be found in 4 types, the most common being types I and II. Case Report: We report a case of Waardenburg type III syndrome in a male patient, 13-years-old, with complaint of generalized pruritus for three months. The exam revealed clinical condition suggestive of Atopic Dermatitis, in addition to hypertelorism, bilateral dystopia canthorum, sinofris, iris heterochromia, frontal white wick, articular contractures in upper limbs and hypochromic lesions in the thorax, dorsum and abdomen. The mother had a similar condition, and both had congenital deafness. Conclusion: The patient was diagnosed with Waadenburg type III syndrome, in which there are musculoskeletal abnormalities of the upper limbs associated with the most frequent clinical. The diagnosis of the syndrome allows a multidisciplinary followup of the patients.

Keywords: Waardenburg syndrome; Genetic skin diseases; Piebaldism; Deafness

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