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The Journal of Dermatology May 2013Piebaldism is an uncommon autosomal dominantly inherited pigment anomaly characterized by a congenital white forelock and leukoderma on the frontal scalp, forehead,... (Review)
Review
Piebaldism is an uncommon autosomal dominantly inherited pigment anomaly characterized by a congenital white forelock and leukoderma on the frontal scalp, forehead, ventral trunk and extremities. It is caused by a loss-of-function mutation in the KIT gene. Genetic analyses reveal a consistent genotype-phenotype relationship in piebaldism. However, recently reported cases of piebaldism that are milder or severer than genetically expected indicate that other factors, such as a modifier gene of MC1R, influence skin and hair color. The KIT ligand/KIT that triggers the Ras/mitogen-activated protein kinase signaling pathway play essential functions in the migration, proliferation, survival, melanogenesis and melanosome transfer of the melanocytes. We summarize current research progress in piebaldism and related disorders.
Topics: Diagnosis, Differential; Genes, Modifier; Genotype; Humans; Phenotype; Piebaldism; Proto-Oncogene Proteins c-kit
PubMed: 22670867
DOI: 10.1111/j.1346-8138.2012.01583.x -
Cutis Feb 2016Piebaldism is a rare autosomal-dominant disorder of melanocyte development characterized by congenital poliosis and stable patches of leukoderma. Initially, these... (Review)
Review
Piebaldism is a rare autosomal-dominant disorder of melanocyte development characterized by congenital poliosis and stable patches of leukoderma. Initially, these clinical features may be the presenting signs of various syndromes or associated diseases, which should be considered in the differential diagnosis. We present the case of a 14-year-old adolescent girl with piebaldism, along with a review of the pathogenesis, diagnosis, and management of this disease entity.
Topics: Adolescent; Diagnosis, Differential; Female; Humans; Melanocytes; Piebaldism
PubMed: 26919497
DOI: No ID Found -
International Journal of Dermatology Oct 2004
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QJM : Monthly Journal of the... Nov 2015
Topics: Child; Diagnosis, Differential; Eyelid Diseases; Facial Dermatoses; Humans; Male; Piebaldism; Torso; Vitiligo
PubMed: 25991872
DOI: 10.1093/qjmed/hcv101 -
Pediatric Dermatology Jan 2019Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are... (Review)
Review
Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. The diagnosis and classification of Waardenburg syndrome, first proposed in 1992 and based on phenotype, have expanded over the past three decades to include genotype. This review focuses on the current understanding of human melanocyte development and the evaluation and management of Piebaldism and Waardenburg syndrome. Management is often challenging and requires a multidisciplinary approach.
Topics: Diagnosis, Differential; Humans; Melanocytes; Mutation; Phenotype; Piebaldism; Waardenburg Syndrome
PubMed: 30561083
DOI: 10.1111/pde.13713 -
Dermatology Online Journal Dec 2005A 46-year-old man presented with a history of a congenital pigment disorder. On physical examination hypopigmented and depigmented patches were present on the...
A 46-year-old man presented with a history of a congenital pigment disorder. On physical examination hypopigmented and depigmented patches were present on the mid-forehead, anterior chest, and extremities. He also had loss of pigment of the medial eyebrows and a white forelock. The patient has a family history of a similar congenital pigment disorder, the pattern of which is indicative of the autosomal dominant disorder piebaldism.
Topics: Humans; Male; Middle Aged; Piebaldism; Skin
PubMed: 16403390
DOI: No ID Found -
Indian Pediatrics Aug 2011
Topics: Child; Genetic Diseases, Inborn; Humans; Male; Piebaldism
PubMed: 21918288
DOI: No ID Found -
Dermatology Online Journal Feb 2011Piebaldism is a rare autosomal dominant skin disorder characterized by a white forelock and depigmented patches of skin, generally located on the forehead, central chest... (Review)
Review
Piebaldism is a rare autosomal dominant skin disorder characterized by a white forelock and depigmented patches of skin, generally located on the forehead, central chest and abdomen, upper arms, and lower extremities. We report a case of a 2-year-old girl with a typical presentation and review the literature concerning this condition.
Topics: Child, Preschool; Female; Genes, Dominant; Humans; Piebaldism
PubMed: 21382296
DOI: No ID Found -
Archives of Dermatology Mar 1988
Topics: Female; Humans; Male; Melanocytes; Pigmentation Disorders; Skin
PubMed: 3345088
DOI: No ID Found