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Dermatological signs in Wilson's disease
Muammer Seyhan1, Teoman Erdem, Mukadder A Selimoğlu
1Department of Dermatology, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Inonu University, Tip Fakultesi, Pediatri AD, Malatya 44280, Turkey. ayseselimoglu@hotmail.com
Insights
Skin and mucosal findings are common in childhood Wilson's disease (WD). A thorough dermatological examination can help diagnose WD, especially in early stages, with xerosis being the most frequent finding.
Area of Science:
- Pediatric Dermatology
- Hepatology
- Genetics
Background:
- Limited data exists on skin and mucosal findings in Wilson's disease (WD).
- Previous research has not detailed the dermatological manifestations in pediatric WD patients.
Purpose of the Study:
- To investigate the prevalence of mucosal and skin findings in childhood Wilson's disease.
- To identify specific dermatological findings associated with WD in children.
Main Methods:
- Examined 37 children (ages 4-17) diagnosed with Wilson's disease.
- Conducted comprehensive examinations of skin, scalp, mucous membranes, and nails.
Main Results:
- 70.3% of patients exhibited at least one dermatological finding.
- Xerosis was the most common diagnosis (45.7%).
- Skin findings were more frequent in newly diagnosed patients (<2 years).
Conclusions:
- Dermatologists should consider Wilson's disease in patients with various skin, mucosal, and nail abnormalities.
- A detailed dermatological examination can be crucial for early WD diagnosis.
- Skin and mucosal findings are significant indicators, particularly in early-stage Wilson's disease.
Background:
Because no data on skin and mucosal findings of patients with Wilson's disease have been published so far, the aim of the present study was to investigate the prevalence of mucosal and skin findings in childhood Wilson's disease and to determine its specific dermatological findings, if any exist.
Methods:
Thirty-seven 4-17-year-old children with Wilson's disease were included. A complete skin, scalp skin, mucous membrane and nail examination was performed.
Results:
Of the children, 26 (70.3%) had at least one dermatological finding. Twenty-five (67.6%), five (13.5%), nine (24.3%) had at least one skin, mucosal and nail finding, respectively. The most prevalent dermatological diagnosis of the Wilson's disease patients was xerosis (45.7%). The presence of dermatological findings was not related to drug usage, severity of the disease, or malnutrition. The duration of the disease was not different in patients with or without dermatological findings. The frequency of skin findings alone, however, was high in relatively newly diagnosed patients (<2 years).
Conclusion:
Dermatologist should be aware of the various dermatological manifestations of Wilson's disease, because a careful and objective skin, mucosa, nail and hair examination may be indicative of a diagnosis of Wilson's disease, particularly in early cases.
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