Introduction: Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts.
Case Report: A 3 1/2 month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Based on the characteristic skin features and family history, we diagnosed the boy's leucoderma as piebaldism.
Conclusion: Vitiligo differs from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life. Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.
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Introduction: Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts.
Case Report: A 3 1/2 month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm.
Clinical and microscopic hair features of griscelli syndrome associated with asymmetric crying facies in an infant.
Pediatr Dev Pathol
April 2008
Erciyes University, School of Medicine, Department of Pediatrics, 38039, Kayseri, Turkey.
Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by immunodeficiency and partial albinism. Asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Asymmetric crying facies may be isolated or it may be associated with various anomalies.
View Article and Find Full Text PDFPiebaldism--a case report.
J Korean Med Sci
June 1996
Department of Dematology, Yonsei University, Wonju College of Medicine, Korea.
We report a familial case of piebaldism affecting a 33-year-old man and his 3-month-old son. Typical skin findings, white forelock and amelanotic white macules containing hyperpigmented macules, were characteristically presented on both patients.
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