Spectrum of Cutaneous Manifestations in Wilson’s Disease-Naïve Patients and Patients on Treatment

INTRODUCTION: Wilson’s disease is an autosomal recessive inherited disorder of copper metabolism characterized by excessive deposition of copper in the liver, brain and other tissues. There is no proper data on the cutaneous manifestations of the disease in children that is published so far in India. AIMS AND OBJECTIVES: The aim of this study is to study the various dermatological manifestations of Wilson’s disease in the pediatric population and to correlate it with the systemic features and the treatment. METHODOLOGY: The study was conducted at the department of Dermatology, Madras Medical College, Chennai. Thirty patients with established Wilson’s disease were taken for the study. Detailed case history of with reference to the duration of the disease and treatment taken were recorded. Detailed and careful examination of skin, mucosa, hair and nail were done. Skin biopsy with special staining for copper was done. RESULTS: As with Sehgal et al, xerosis was the most common manifestation in our study. Trichomegaly was one common association we found in the study. The skin biopsy from the patients did not show any deposits of copper as seen by copper staining. Blue lunula of nails and cutaneous effects of D-Penicillamine were not found in our study. CONCLUSION: Dermatologists should be aware of the various dermatological manifestations of Wilson’s disease and cutaneous side effects of D-Penicillamine. Although cutaneous manifestations are non- specific in Wilson’s disese, it is mandatory to have an astute dermatological examination of all patients with the disease