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Dyschromatosis universalis hereditaria(DUH)

MedGen UID:
419691
Concept ID:
C2930995
Disease or Syndrome
Synonym: DUH
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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.
 
Monarch Initiative: MONDO:0000736
OMIM® Phenotypic series: PS127500
Orphanet: ORPHA241

Definition

A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDyschromatosis universalis hereditaria

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

Lin MH, Chou PC, Lee IC, Yang SF, Yu HS, Yu S
Genes (Basel) 2023 Jun 20;14(6) doi: 10.3390/genes14061300. PMID: 37372478Free PMC Article
Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215
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
Rudolph G, Dimitriadis K, Büchner B, Heck S, Al-Tamami J, Seidensticker F, Rummey C, Leinonen M, Meier T, Klopstock T
J Neuroophthalmol 2013 Mar;33(1):30-6. doi: 10.1097/WNO.0b013e318272c643. PMID: 23263355Free PMC Article
Urabe K, Hori Y
Semin Cutan Med Surg 1997 Mar;16(1):81-5. doi: 10.1016/s1085-5629(97)80039-9. PMID: 9125769

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
Zhou D, Yang P, Chen H
Exp Dermatol 2023 Sep;32(9):1334-1343. Epub 2023 Jun 23 doi: 10.1111/exd.14860. PMID: 37353900
Bista M , Agrawal S , Agrawal Y
Kathmandu Univ Med J (KUMJ) 2021 Jan.-Mar;19(73):146-147. PMID: 34812175
Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215
Urabe K, Hori Y
Semin Cutan Med Surg 1997 Mar;16(1):81-5. doi: 10.1016/s1085-5629(97)80039-9. PMID: 9125769

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
Rudolph G, Dimitriadis K, Büchner B, Heck S, Al-Tamami J, Seidensticker F, Rummey C, Leinonen M, Meier T, Klopstock T
J Neuroophthalmol 2013 Mar;33(1):30-6. doi: 10.1097/WNO.0b013e318272c643. PMID: 23263355Free PMC Article
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
Urabe K, Hori Y
Semin Cutan Med Surg 1997 Mar;16(1):81-5. doi: 10.1016/s1085-5629(97)80039-9. PMID: 9125769

Prognosis

Zhou D, Yang P, Chen H
Exp Dermatol 2023 Sep;32(9):1334-1343. Epub 2023 Jun 23 doi: 10.1111/exd.14860. PMID: 37353900
Liu JW, Habulieti X, Wang RR, Ma DL, Zhang X
J Clin Lab Anal 2021 Jun;35(6):e23803. Epub 2021 May 24 doi: 10.1002/jcla.23803. PMID: 34028087Free PMC Article
Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215

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
Amyere M, Vogt T, Hoo J, Brandrup F, Bygum A, Boon L, Vikkula M
J Invest Dermatol 2011 Jun;131(6):1234-9. Epub 2011 Mar 3 doi: 10.1038/jid.2011.29. PMID: 21368769
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

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