KIT gene mutation causing piebaldism associated with multiple Café Au-Lait like macules and freckling: Delineating a cause of this coexistence

• Main Authors: Shibhani S Hegde (Author), Sahana M Srinivas (Author), Nijaguna Nanjundappa (Author)
• Formato: Livro
• Publicado em: Wolters Kluwer Medknow Publications, 2023-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in KIT proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait macules and skin fold freckling complicating the di...