Piebaldism
"Piebaldism" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Descriptor ID |
D016116
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MeSH Number(s) |
C16.320.290.040.600 C16.320.565.100.102.600 C16.320.850.080.600 C17.800.621.440.102.600 C17.800.827.080.600 C18.452.648.100.102.600
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Concept/Terms |
Piebaldism- Piebaldism
- Piebald Trait
- Albinism, Cutaneous
- Cutaneous Albinism
- Albinism, Partial
- Partial Albinism
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Below are MeSH descriptors whose meaning is more general than "Piebaldism".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Eye Diseases, Hereditary [C16.320.290]
- Albinism [C16.320.290.040]
- Piebaldism [C16.320.290.040.600]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Albinism [C16.320.565.100.102]
- Piebaldism [C16.320.565.100.102.600]
- Skin Diseases, Genetic [C16.320.850]
- Albinism [C16.320.850.080]
- Piebaldism [C16.320.850.080.600]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Pigmentation Disorders [C17.800.621]
- Hypopigmentation [C17.800.621.440]
- Albinism [C17.800.621.440.102]
- Piebaldism [C17.800.621.440.102.600]
- Skin Diseases, Genetic [C17.800.827]
- Albinism [C17.800.827.080]
- Piebaldism [C17.800.827.080.600]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Albinism [C18.452.648.100.102]
- Piebaldism [C18.452.648.100.102.600]
Below are MeSH descriptors whose meaning is more specific than "Piebaldism".
This graph shows the total number of publications written about "Piebaldism" by people in this website by year, and whether "Piebaldism" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Below are the most recent publications written about "Piebaldism" by people in Profiles.
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Mirhadi S, Spritz RA, Moss C. Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome? Am J Med Genet A. 2020 12; 182(12):3074-3075.
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Netter P, Chan SK, Banerjee PP, Monaco-Shawver L, Noroski LM, Hanson IC, Forbes LR, Mace EM, Chinen J, Gaspar HB, Sleiman P, Hakonarson H, Klein C, Ehlayel MS, Orange JS. A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. J Allergy Clin Immunol. 2016 08; 138(2):599-601.e3.
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Spritz R. Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. Dermatol Online J. 2011 Nov 15; 17(11):13.
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Spritz RA. "Out, damned spot!". J Invest Dermatol. 2006 May; 126(5):949-51.
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Spritz RA, Itin PH, Gutmann DH. Piebaldism and neurofibromatosis type 1: horses of very different colors. J Invest Dermatol. 2004 Feb; 122(2):xxxiv-xxxv.
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S?nchez-Mart?n M, P?rez-Losada J, Rodr?guez-Garc?a A, Gonz?lez-S?nchez B, Korf BR, Kuster W, Moss C, Spritz RA, S?nchez-Garc?a I. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct 01; 122A(2):125-32.
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Spritz RA, Beighton P. Piebaldism with deafness: molecular evidence for an expanded syndrome. Am J Med Genet. 1998 Jan 06; 75(1):101-3.
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Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997 Mar; 16(1):15-23.
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Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol. 1994 Nov; 103(5 Suppl):137S-140S.
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Spritz RA, Ho L, Strunk KM. Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W). J Invest Dermatol. 1994 Aug; 103(2):148-50.
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