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Piebaldism(PBT)

MedGen UID:
36361
Concept ID:
C0080024
Congenital Abnormality
Synonyms: PBT; Piebald skin depigmentation
SNOMED CT: Partial albinism (6479008); Piebaldism (718122005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): KIT (4q12)
 
HPO: HP:0007544
Monarch Initiative: MONDO:0008244
OMIM®: 172800
Orphanet: ORPHA2884

Definition

Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004). [from OMIM]

Additional description

From MedlinePlus Genetics
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented.

People with piebaldism usually have other unpigmented patches of skin, typically appearing symmetrically on both sides of the body. There may be spots or patches of pigmented skin within or around the borders of the unpigmented areas.

In most cases, the unpigmented areas are present at birth and do not increase in size or number. The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure. Some people with piebaldism are self-conscious about the appearance of the unpigmented patches, which may be more noticeable in darker-skinned people. Aside from these potential issues, this condition has no effect on the health of the affected individual.  https://medlineplus.gov/genetics/condition/piebaldism

Clinical features

From HPO
Neoplasm
MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Aganglionic megacolon
MedGen UID:
5559
Concept ID:
C0019569
Disease or Syndrome
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32. HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880). Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).
White forelock
MedGen UID:
91023
Concept ID:
C0344312
Finding
A triangular depigmented region of white hairs located in the anterior midline of the scalp.
Absent pigmentation of the ventral chest
MedGen UID:
870403
Concept ID:
C4024848
Disease or Syndrome
Lack of skin pigmentation (coloring) of the anterior chest.
Partial albinism
MedGen UID:
1053316
Concept ID:
CN376786
Finding
Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.
Heterochromia iridis
MedGen UID:
98395
Concept ID:
C0423318
Finding
Heterochromia iridis is a difference in the color of the iris in the two eyes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPiebaldism
Follow this link to review classifications for Piebaldism in Orphanet.

Professional guidelines

PubMed

Maghfour J, Bardhi R, Huggins R, Hamzavi IH, Mohammad TF
Dermatology 2023;239(5):828-831. Epub 2023 May 5 doi: 10.1159/000530930. PMID: 37231873
Narayan VS, van den Bol LLC, van Geel N, Bekkenk MW, Luiten RM, Wolkerstorfer A
J Eur Acad Dermatol Venereol 2021 May;35(5):1077-1086. Epub 2021 Feb 12 doi: 10.1111/jdv.17108. PMID: 33428279Free PMC Article
Goh BK, Chua XM, Chong KL, de Mil M, van Geel NA
Dermatol Surg 2010 Feb;36(2):203-7. Epub 2009 Dec 21 doi: 10.1111/j.1524-4725.2009.01423.x. PMID: 20039922

Recent clinical studies

Etiology

Cetinkaya PG, Cagdas D, Gumruk F, Tezcan I
J Pediatr Hematol Oncol 2020 Aug;42(6):e434-e439. doi: 10.1097/MPH.0000000000001803. PMID: 32324696
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Sleiman R, Kurban M, Succaria F, Abbas O
J Am Acad Dermatol 2013 Oct;69(4):625-33. Epub 2013 Jul 12 doi: 10.1016/j.jaad.2013.05.022. PMID: 23850259
Plensdorf S, Martinez J
Am Fam Physician 2009 Jan 15;79(2):109-16. PMID: 19178061
Wu T
J Eur Acad Dermatol Venereol 1998 Mar;10(2):152-4. PMID: 9553913

Diagnosis

Saleem MD
Pediatr Dermatol 2019 Jan;36(1):72-84. Epub 2018 Dec 18 doi: 10.1111/pde.13713. PMID: 30561083
Grob A, Grekin S
Cutis 2016 Feb;97(2):90-2. PMID: 26919497
Oiso N, Fukai K, Kawada A, Suzuki T
J Dermatol 2013 May;40(5):330-5. Epub 2012 Jun 1 doi: 10.1111/j.1346-8138.2012.01583.x. PMID: 22670867
Fistarol SK, Itin PH
J Dtsch Dermatol Ges 2010 Mar;8(3):187-201; quiz 201-2. Epub 2009 Sep 24 doi: 10.1111/j.1610-0387.2009.07137.x. PMID: 19788584
Le Poole C, Boissy RE
Semin Cutan Med Surg 1997 Mar;16(1):3-14. doi: 10.1016/s1085-5629(97)80030-2. PMID: 9125760

Therapy

Sefsafi Z, Hasbaoui BE, Kili A, Agadr A, Khattab M
Pan Afr Med J 2018;29:75. Epub 2018 Jan 25 doi: 10.11604/pamj.2018.29.75.12353. PMID: 29875956Free PMC Article
Lommerts JE, Meesters AA, Komen L, Bekkenk MW, de Rie MA, Luiten RM, Wolkerstorfer A
Br J Dermatol 2017 Nov;177(5):1293-1298. Epub 2017 Oct 22 doi: 10.1111/bjd.15569. PMID: 28403523
Komen L, Vrijman C, Prinsen CA, van der Veen JP, Luiten RM, Wolkerstorfer A
J Dermatolog Treat 2017 Feb;28(1):86-91. Epub 2016 Jun 16 doi: 10.1080/09546634.2016.1179251. PMID: 27309418
Hartmann A, Bröcker EB, Becker JC
Drugs 2004;64(1):89-107. doi: 10.2165/00003495-200464010-00006. PMID: 14723560
Le Poole C, Boissy RE
Semin Cutan Med Surg 1997 Mar;16(1):3-14. doi: 10.1016/s1085-5629(97)80030-2. PMID: 9125760

Prognosis

Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM
Scand J Immunol 2021 Jun;93(6):e13034. Epub 2021 Mar 20 doi: 10.1111/sji.13034. PMID: 33660295
Goh BK, Pandya AG
Dermatol Clin 2017 Apr;35(2):135-144. doi: 10.1016/j.det.2016.11.004. PMID: 28317523
Sleiman R, Kurban M, Succaria F, Abbas O
J Am Acad Dermatol 2013 Oct;69(4):625-33. Epub 2013 Jul 12 doi: 10.1016/j.jaad.2013.05.022. PMID: 23850259
Emanuel PO, Sternberg LJ, Phelps RG
Skinmed 2007 May-Jun;6(3):147-9. doi: 10.1111/j.1540-9740.2007.05783.x. PMID: 17483661
Wu T
J Eur Acad Dermatol Venereol 1998 Mar;10(2):152-4. PMID: 9553913

Clinical prediction guides

Cetinkaya PG, Cagdas D, Gumruk F, Tezcan I
J Pediatr Hematol Oncol 2020 Aug;42(6):e434-e439. doi: 10.1097/MPH.0000000000001803. PMID: 32324696
Lennartsson J, Rönnstrand L
Physiol Rev 2012 Oct;92(4):1619-49. doi: 10.1152/physrev.00046.2011. PMID: 23073628
Robertson SC, Tynan JA, Donoghue DJ
Trends Genet 2000 Jun;16(6):265-71. doi: 10.1016/s0168-9525(00)02021-7. PMID: 10827454
Le Poole C, Boissy RE
Semin Cutan Med Surg 1997 Mar;16(1):3-14. doi: 10.1016/s1085-5629(97)80030-2. PMID: 9125760
Tomita Y
Arch Dermatol 1994 Mar;130(3):355-8. PMID: 8129415

Recent systematic reviews

Narayan VS, van den Bol LLC, van Geel N, Bekkenk MW, Luiten RM, Wolkerstorfer A
J Eur Acad Dermatol Venereol 2021 May;35(5):1077-1086. Epub 2021 Feb 12 doi: 10.1111/jdv.17108. PMID: 33428279Free PMC Article

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