Dyschromatosis Universalis Hereditaria (DUH) belongs to a group of congenital diffuse reticulate pigmentary disorders characterised by both hypo and hyper pigmented macules. It is both hereditary and sporadic. A number of associated cutaneous and systemic diseases have been reported. The recent discovery of the mutation in ATP binding cassette protein, ABCB6 in DUH attempts to explain the reason behind the pigmentary abnormalities and varied associations. We add a new association by reporting a case of DUH with primary ovarian failure (POF) and hypothyroidism.
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http://dx.doi.org/10.7860/JCDR/2016/17525.7368 | DOI Listing |
Nat Commun
November 2024
Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
ABCB6 has been implicated in dyschromatosis universalis hereditaria, a condition characterized by hyperpigmented and hypopigmented skin macules. Dyschromatosis universalis hereditaria can also present with hearing loss. Dyschromatosis universalis hereditaria-associated mutations in ABCB6 have been reported, but the role of this protein in the inner ear has not been studied.
View Article and Find Full Text PDFInt J Appl Basic Med Res
August 2024
Department of Microbiology, AIIMS, Rajkot, Gujarat, India.
Clin Exp Dermatol
December 2024
Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India.
Int J Dermatol
October 2023
Department of Dermatology, Venereology and Leprosy, Sri Manakula Vinayagar Medical College and Hospital, Pondicherry, India.
Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH) (Reticulate acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis, which differ in their patterns of distribution. The disease was initially described by Ichikawa and Hiraga in Germany in 1933. The prevalence of DUH is 0.
View Article and Find Full Text PDFMedicine (Baltimore)
August 2023
Department of Obstetrics and Gynecology, West China Second Hospital of Sichuan University, Chengdu, China.
Rationale: Dyschromatosis universalis hereditaria (DUH) is an uncommon form of pigmented genodermatosis that is typically inherited autosomally and dominantly. In the previous study, the pathogenic genes of DUH have been identified in ATP-binding cassette subfamily B, member 6 and SASH1. However, the mutational screening of the causative gene remains incomplete and still lacks sufficient proof in the etiology.
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