U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypopigmented skin patches

MedGen UID:
373164
Concept ID:
C1836735
Finding
Synonyms: Patchy loss of skin color; Patchy loss of skin colour
 
HPO: HP:0001053

Conditions with this feature

Waardenburg syndrome type 3
MedGen UID:
86948
Concept ID:
C0079661
Disease or Syndrome
Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).
PCWH syndrome
MedGen UID:
373160
Concept ID:
C1836727
Disease or Syndrome
PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder.
Hyperpigmentation with or without hypopigmentation, familial progressive
MedGen UID:
333550
Concept ID:
C1840392
Disease or Syndrome
Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011). Also see familial progressive hyperpigmentation (FPH1; 614233).
Waardenburg syndrome type 4A
MedGen UID:
341244
Concept ID:
C1848519
Disease or Syndrome
Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (131244). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4 Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (613265) is caused by mutation in the EDN3 gene (131242) on chromosome 20q13, and WS4C (613266) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13.
Waardenburg syndrome type 2E
MedGen UID:
398476
Concept ID:
C2700405
Disease or Syndrome
Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (602229), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).
Waardenburg syndrome type 4C
MedGen UID:
413310
Concept ID:
C2750452
Disease or Syndrome
Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4C is caused by mutation in the SOX10 gene (602229). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).
Waardenburg syndrome type 4B
MedGen UID:
412961
Concept ID:
C2750457
Disease or Syndrome
Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4B is caused by mutation in the EDN3 gene (131242). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).

Professional guidelines

PubMed

Qi F, Liu F, Gao L
Front Immunol 2021;12:790125. Epub 2021 Nov 18 doi: 10.3389/fimmu.2021.790125. PMID: 34868078Free PMC Article
Frisoli ML, Essien K, Harris JE
Annu Rev Immunol 2020 Apr 26;38:621-648. Epub 2020 Feb 4 doi: 10.1146/annurev-immunol-100919-023531. PMID: 32017656
Nahhas AF, Braunberger TL, Hamzavi IH
Skin Therapy Lett 2019 May;24(3):1-6. PMID: 31095346

Recent clinical studies

Etiology

Gabaton N, Kannu P, Pope E, Shugar A, Lara-Corrales I
Pediatr Dermatol 2020 Sep;37(5):868-871. Epub 2020 Jun 29 doi: 10.1111/pde.14222. PMID: 32598042

Diagnosis

Gabaton N, Kannu P, Pope E, Shugar A, Lara-Corrales I
Pediatr Dermatol 2020 Sep;37(5):868-871. Epub 2020 Jun 29 doi: 10.1111/pde.14222. PMID: 32598042

Prognosis

Sezer A, Kayhan G, Zenker M, Percin EF
Eur J Med Genet 2019 Dec;62(12):103608. Epub 2018 Dec 24 doi: 10.1016/j.ejmg.2018.12.013. PMID: 30590172

Clinical prediction guides

Sotirova VN, Rezaie TM, Khoshsorour MM, Sarfarazi M
Ophthalmic Genet 2000 Mar;21(1):25-8. PMID: 10779847

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...