Spectrum of cutaneous manifestations in Wilson’s disease in children in a tertiary care center in South India: a prospective study


  • Karrunya K. J. Department of Dermatology, Madras Medical College, Chennai, Tamil Nadu, India
  • Sumathi Bavanandam Department of Pediatric Gastroenterology, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India
  • Nirmala Dheivamani Department of Pediatric Gastroenterology, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India
  • Vijayabhaskhar C. Reddy Department of Dermatology, Madras Medical College, Chennai, Tamil Nadu, India
  • Manoharan K. Department of Dermatology, Madras Medical College, Chennai, Tamil Nadu, India




Children, Cutaneous manifestations, Skin biopsy, Wilson’s disease


Background: Wilson’s disease in children is the most common inherited disorder of copper metabolism in India with varied clinical manifestations secondary to deposition of copper in various organs including skin.

Methods: The aim of the study was to study various cutaneous manifestations of Wilson’s disease in south Indian children. A prospective study for a period of one year was conducted at Dermatology and Pediatric Gastroenterology clinic in Government Rajiv Gandhi Hospital, Chennai. Clinical, demographic details, various cutaneous manifestations and results of skin biopsy were analysed. 

Results: Out of the total 30 children with Wilson’s disease, 93.3% had at least one cutaneous, mucosal, hair or nail findings but not statistically significant between naive and on treatment group. Cutaneous findings, mucosal involvement, hair changes and nail findings were observed in 90%, 36.7%, 46.7% and 60% respectively. Cutaneous findings were more common in liver disease (P value<0.05). Xerosis was the most common cutaneous manifestation seen in 63.3% patients, followed by pigmentation in 36.7% and infection in 30%.  KF ring was noted in 53.3%. Icterus and pruritus were seen in one fifth of study children and majority had portal hypertension. Vascular changes like spider nevi, purpura and other features of portal hypertension were noted in 16.6% of study population. Trichomegaly was one of the common hair manifestation found in 9 (30% especially in children already on treatment (p value <0.05). There was no evidence of stainable copper on skin biopsy.

Conclusions: The physicians should be aware of various cutaneous manifestations of Wilson’s disease in children.


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