Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Piebaldism

Piebaldism is a disorder of skin pigmentation characterized by hypo- or depigmented skin areas. The disorder may be caused by mutations of the KIT gene.

Systematic

Hereditary dermatological disorders
Autoinflammation with arthritis and dyskeratosis
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Epidermolysis bullosa
Familial acne inversa 1
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Interleukin 36 receptor antagonist deficiency
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Nephropathy with pretibial epidermolysis bullosa and deafness
Piebaldism
KIT
Pityriasis rubra pilaris
Psoriasis 02
Psoriasis 14
Psoriasis 15
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Susceptibility to vitiligo-associated multiple autoimmune disease 1

References:

1.

Yamamoto Y et al. (1989) Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait.

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2.

Giebel LB et al. (1991) Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

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3.

Spritz RA et al. (1998) Piebaldism with deafness: molecular evidence for an expanded syndrome.

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4.

Richards KA et al. (2001) A novel KIT mutation results in piebaldism with progressive depigmentation.

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5.

Lacassie Y et al. (1977) Piebald trait in a retarded child with interstitial deletion of chromosome 4.

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6.

Farag TI et al. (1992) A Bedouin kindred with 19 piebalds in 5 generations.

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7.

Winship I et al. (1991) Piebaldism: an autonomous autosomal dominant entity.

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8.

Geissler EN et al. (1988) Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W.

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9.

Hultén MA et al. (1987) Homozygosity in piebald trait.

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10.

Hoo JJ et al. (1986) Tentative assignment of piebald trait gene to chromosome band 4q12.

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11.

Funderburk SJ et al. (1974) Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

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12.

Reed WB et al. (1967) Pigmentary disorders in association with congenital deafness.

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13.

Mahakrishnan A et al. (1980) Piebaldness with Hirschsprung's disease.

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14.

Sánchez-Martín M et al. (2003) Deletion of the SLUG (SNAI2) gene results in human piebaldism.

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15.

BIELSCHOWSKY M et al. (1962) Studies on megacolon in piebald mice.

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16.

Thomas I et al. (2004) Piebaldism: an update.

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17.

OMIM.ORG article

Omim 172800 [^]
18.

Orphanet article

Orphanet ID 2884 [^]
19.

Wikipedia article

Wikipedia EN (Piebaldism) [^]
Update: April 29, 2019