Retyping and molecular pathology diagnosis of dyschromatosis universalis hereditaria.
Dyschromatosis Universalis Hereditaria
causative genes
melanogenesis cascade
mosaic-like melanin
Journal
Experimental dermatology
ISSN: 1600-0625
Titre abrégé: Exp Dermatol
Pays: Denmark
ID NLM: 9301549
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
revised:
07
06
2023
received:
03
03
2023
accepted:
09
06
2023
medline:
11
9
2023
pubmed:
24
6
2023
entrez:
24
6
2023
Statut:
ppublish
Résumé
Dyschromatosis universalis hereditaria (DUH) is characterized by diffuse symmetrically distributed hypopigmented macules mixed with hyperpigmentation. DUH is divided into three types by Online Mendelian inheritance in man (OMIM) that is, DUH1 (OMIM 127500), DUH2 (OMIM 612715) and DUH3 (OMIM 615402) according to the different linkage regions. Although each condition possesses corresponding phenotypic characteristics and the prognosis for each is somewhat different, these disorders are highly overlapped and difficult to differentiate in the clinical setting. Our latest study reveals a novel DUH subtype that presents a mild phenotype of pigmentation anomalies and is named PER3
Substances chimiques
Melanins
0
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1334-1343Informations de copyright
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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