Piebaldism with non-intertriginous freckles: What does it mean?

Sarma, Nilendu; Chakraborty, Sayantani; Bhanja, Dulal Chandra; Bhattachraya, Sneha Ranjan

doi:10.4103/0378-6323.129404

Cited by 3 publications

(3 citation statements)

References 8 publications

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“…Hyperpigmented macules adjacent to and/or within depigmented patches are a classic characteristic finding that can aid in the diagnosis of Piebaldism . Axillary freckling and café‐au‐lait spots are occasional features of Piebaldism and should not be confused with neurofibromatosis‐1 . Piebaldism is best viewed as a variant of Waardenburg syndrome without the extra‐cutaneous manifestations.…”

Section: Piebaldism and Waardenburg Syndromementioning

confidence: 99%

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Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Saleem

2018

Pediatric Dermatology

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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.

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Section: Piebaldism and Waardenburg Syndromementioning

confidence: 99%

“…[19][20][21][22] Axillary freckling and café-au-lait spots are occasional features of Piebaldism and should not be confused with neurofibromatosis-1. [23][24][25][26][27] Piebaldism is best viewed as a variant of Waardenburg syndrome without the extra-cutaneous manifestations.…”

Section: Syndromementioning

confidence: 99%

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Saleem

2018

Pediatric Dermatology

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“…Piebaldism is manifest at birth and results from germline inactivating (loss-of-function) mutations or deletions of the c-KIT (receptor tyrosine kinase; chromosome 4q12) or SLUG (zinc finger neural crest transcription factor; chromosome 8q11) genes. [ 2 3 ] Almost 75% of cases harbor mutations in the c-KIT gene, while the rest 25% result from SLUG gene mutations. [ 1 2 ] C-KIT proto-oncogene encodes the tyrosine kinase cell-surface receptor for mast/stem cell growth factor, and it is responsible for the proliferation, survival, differentiation, and migration of melanoblasts during embryogenesis.…”

Section: Discussionmentioning

confidence: 99%

The Leopard Kid with White Mane

Durmaz

Duman

2022

Indian Journal of Dermatology

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Piebaldismo-Moebius y exposición prenatal a misoprostol: reporte de un caso

Mendoza-Urbano

Ramírez-Cheyne

Saldarriaga

2015

iatreia

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El piebaldismo es una enfermedad congénita rara de curso estático, con prevalencia de 1/100.000; se caracteriza por despigmentación en parches de la piel y presencia de un mechón blanco frontal. Por lo demás los pacientes son sanos. Se hereda con un patrón autosómico dominante. Es causado por mutaciones en el gen c-kit, un protoncogén que participa en la migración, proliferación, diferenciación y supervivencia de los melanoblastos. Por otro lado, el síndrome de Moebius es una parálisis congénita del VII par craneal, que puede estar asociada a compromiso de otros pares craneales, o incluso de otros sistemas. En Estados Unidos se ha calculado su frecuencia en 0,002 % -0,0002 % del total de nacimientos. Presentamos el caso de una recién nacida con piebaldismo y síndrome de Moebius asociado a exposición prenatal a misoprostol. Se hace una búsqueda bibliográfica sobre las anomalías de la paciente y la asociación entre la exposición prenatal a misoprostol y anomalías congénitas. El piebaldismo es un trastorno raro de etiología genética. El síndrome de Moebius, en cambio, es de causa heterogénea y no bien definida, y se ha asociado a exposición prenatal a misoprostol. La paciente reportada presenta simultáneamente ambas entidades, una netamente genética y la otra posiblemente teratogénica. PALABRAS CLAVEDefectos Congénitos; Embarazo; Hipopigmentación; Misoprostol; Piebaldismo; Síndrome de Mobius SUMMARY Piebaldism-Moebius and prenatal exposure to misoprostol: a case report Piebaldism is a rare congenital disease with prevalence of 1/100.000, characterized by patchy depigmentation of the skin and the presence of a white forelock. Its course is static and otherwise patients are healthy. It is inherited in an autosomal dominant pattern and is caused

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Piebaldism with non-intertriginous freckles: What does it mean?

Cited by 3 publications

References 8 publications

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

The Leopard Kid with White Mane

Piebaldismo-Moebius y exposición prenatal a misoprostol: reporte de un caso

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