Results 21 to 30 of about 401 (136)

The role of ATP-binding Cassette subfamily B member 6 in the inner ear [PDF]

Nature Communications
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.
Stefanie A. Baril, Katie A. Wilson, Md Munan Shaik, Yu Fukuda, Robyn A. Umans, Alessandro Barbieri, John Lynch, Tomoka Gose, Alexander Myasnikov, Michael L. Oldham, Yao Wang, Jingwen Zhu, Jie Fang, Jian Zuo, Ravi C. Kalathur, Robert C. Ford, Allison Coffin, Michael R. Taylor, Megan L. O’Mara, John D. Schuetz   +19 more
doaj   +3 more sources

Dyschromatosis universalis hereditaria: A case report

Dermatology Online Journal, 2011
Dyschromatosis universalis hereditaria (DUH) is usually an autosomal dominantly inherited disorder characterized by the presence of hypopigmented as well as hyperpigmented macules. We report an Indian patient with DUH with widespread involvement of skin including the face, oral mucous membranes (including tongue), and palms and soles.
Udayashankar, Carounanidy, Nath, Amiya Kumar   +1 more
core   +7 more sources

Dyschromatosis universalis hereditaria in an African American male

Dermatology Online Journal, 2011
Dyschromatosis universalis hereditaria (DUH) is a very rare genodermatosis characterized by generalized skin dyspigmentation. It is most common in Japan, but has also been reported in other parts of Asia, Europe, South America, and Africa. We report a case of a 44-year-old man born and raised in North America who presented with total skin discoloration
Reddy, Shruthi Geedipalley, Worobec, Sophie Marie   +1 more
core   +7 more sources

Dyschromatosis universalis hereditaria with mucosal and palmar involvement

Pigment International
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis. It is clinically characterized by the symmetrical distribution of hyperpigmented and hypopigmented macules that give an impression of mottling. The cosmetic disfigurement accompanying
Yogesh Devaraj, Neethu Nag, Nikitha Reddy Mittamedi, Taranpreet Kaur Kalra   +3 more
doaj   +3 more sources

Sporadic dyschromatosis universalis hereditaria: A rare case report

Indian Journal of Paediatric Dermatology, 2017
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatoses characterized by hyperpigmented and hypopigmented macules inherited most commonly in autosomal dominant manner.
Shweta Manchanda, Ravish Arora, M M Lingaraj   +2 more
doaj   +2 more sources

Dyschromias: A series of five interesting cases from India

Indian Journal of Dermatology, 2015
Dyschromatosis is a pigmentary genodermatosis which presents with hyper and hypopigmented skin lesions giving a mottled appearance. It is a rare entity in India reported mainly in the East Asian population.
Prabhu Namitha, S Sacchidanand
doaj   +2 more sources

Sporadic Case of dyschromatosis universalis hereditaria showing moderate response to narrow-band ultraviolet-B

Indian Journal of Paediatric Dermatology, 2019
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis where the affected manifests mottled pigmentation with intermingled hyper- and hypo-pigmented macules. On most occasions, the lesions begin on limbs and then extend to trunk.
Sarita Sasidharanpillai, Amal Shyam, Shiny P Manakkad, Ettapurath N Abdul Latheef, Saleem Rahima, Nina Paul   +5 more
doaj   +3 more sources

Unraveling Dowling-Degos Disease: A Rare Skin Disorder. [PDF]

Clin Case Rep
ABSTRACT Dowling–Degos disease (DDD) is a rare genodermatosis characterized by brown to black macules distributed symmetrically in the axilla, groin, elbow, face, neck, and trunk. It is more common in women, usually after puberty. The main pathogenesis behind DDD is a mutation in the keratin 5 gene.
Mathur M, Thakur N, Paudel S, Karki S, Regmi S, Bhattarai N.   +5 more
europepmc   +2 more sources

Three mutations in SASH1 cause the pathogenesis of dyschromatosis universalis hereditaria (DUH) [PDF]

, 2011
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hyper- and hypopigmented macules which form a reticulate or mottled pattern.
Zhiyun Wei, Qinghe Xing, Dingan Zhou
core   +2 more sources

Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis [PDF]

Frontiers in Genetics
Dyschromatosis, a group of pigmentary dermatoses, accompany both hyper- and hypo-pigmentation, including dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), and familial progressive hyper- and hypo-pigmentation ...
Tingmei Wang, Dong Li, Yunhua Deng
doaj   +2 more sources