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Dyschromatosis universalis hereditaria 3(DUH3)

MedGen UID:
815724
Concept ID:
C3809394
Disease or Syndrome
Synonym: DUH3
 
Gene (location): ABCB6 (2q35)
 
Monarch Initiative: MONDO:0014169
OMIM®: 615402

Definition

Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). For a discussion of genetic heterogeneity of DUH, see DUH1 (127500). [from OMIM]

Clinical features

From HPO
Hypermelanotic macule
MedGen UID:
375013
Concept ID:
C1842774
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Hypopigmented macule
MedGen UID:
760487
Concept ID:
C2047793
Finding
A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.

Professional guidelines

PubMed

Liu JW; Asan, Sun J, Vano-Galvan S, Liu FX, Wei XX, Ma DL
Chin Med J (Engl) 2016 Jan 5;129(1):33-8. doi: 10.4103/0366-6999.172564. PMID: 26712430Free PMC Article

Recent clinical studies

Etiology

Liu JW; Asan, Sun J, Vano-Galvan S, Liu FX, Wei XX, Ma DL
Chin Med J (Engl) 2016 Jan 5;129(1):33-8. doi: 10.4103/0366-6999.172564. PMID: 26712430Free PMC Article

Diagnosis

Murthy AB, Palaniappan V, Karthikeyan K, Anbarasan V
Int J Dermatol 2023 Oct;62(10):1218-1227. Epub 2023 Aug 27 doi: 10.1111/ijd.16817. PMID: 37634201
Yang Y, Jiang N, Mai JQ, Yang S, Xiao Y, Liu S
Medicine (Baltimore) 2023 Aug 4;102(31):e34448. doi: 10.1097/MD.0000000000034448. PMID: 37543808Free PMC Article
Liu JW; Asan, Sun J, Vano-Galvan S, Liu FX, Wei XX, Ma DL
Chin Med J (Engl) 2016 Jan 5;129(1):33-8. doi: 10.4103/0366-6999.172564. PMID: 26712430Free PMC Article
Kumar S, Rajendra O, Prasad H
Int J Dermatol 2014 Mar;53(3):342-5. Epub 2013 Dec 10 doi: 10.1111/j.1365-4632.2012.05496.x. PMID: 24320734
Kenani N, Ghariani N, Denguezli M, Sriha B, Belajouza C, Nouira R
Dermatol Online J 2008 Feb 28;14(2):16. PMID: 18700119

Therapy

Chen H, Yang P, Yang D, Wang D, Lu M, Li Y, Zhong Z, Zhang J, Zeng Z, Liu Z, Zeng X, Jia X, Xing Q, Zhou D
J Mol Med (Berl) 2023 Mar;101(3):279-294. Epub 2023 Feb 15 doi: 10.1007/s00109-023-02288-6. PMID: 36790533
Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, Tian Y, Ren W, Mei A, Zhang Q, Fang M, Su Z, Yin Y, Liu D, Chen Y, Cui X, Li C, Yang H, Wang Q, Wang J, Liu M, Deng Y
J Invest Dermatol 2013 Sep;133(9):2221-8. Epub 2013 Mar 21 doi: 10.1038/jid.2013.145. PMID: 23519333
Nuber UA, Tinschert S, Mundlos S, Hauber I
Am J Med Genet A 2004 Mar 15;125A(3):261-6. doi: 10.1002/ajmg.a.20519. PMID: 14994234

Clinical prediction guides

Murthy AB, Palaniappan V, Karthikeyan K, Anbarasan V
Int J Dermatol 2023 Oct;62(10):1218-1227. Epub 2023 Aug 27 doi: 10.1111/ijd.16817. PMID: 37634201
Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ
PLoS One 2013;8(11):e79808. Epub 2013 Nov 5 doi: 10.1371/journal.pone.0079808. PMID: 24224009Free PMC Article
Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, Tian Y, Ren W, Mei A, Zhang Q, Fang M, Su Z, Yin Y, Liu D, Chen Y, Cui X, Li C, Yang H, Wang Q, Wang J, Liu M, Deng Y
J Invest Dermatol 2013 Sep;133(9):2221-8. Epub 2013 Mar 21 doi: 10.1038/jid.2013.145. PMID: 23519333
Stuhrmann M, Hennies HC, Bukhari IA, Brakensiek K, Nürnberg G, Becker C, Huebener J, Miranda MC, Frye-Boukhriss H, Knothe S, Schmidtke J, El-Harith EH
Clin Genet 2008 Jun;73(6):566-72. Epub 2008 May 6 doi: 10.1111/j.1399-0004.2008.01000.x. PMID: 18462451
Kao CH, Yu HS, Ko SS
J Formos Med Assoc 1991 Dec;90(12):1205-10. PMID: 1686890

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