Results 1 to 10 of about 10,294,639 (233)
Darier Disease – A Multi-organ Condition? [PDF]
Acta Dermato-Venereologica, 2021 Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 in the endoplasmic reticulum.
Etty Bachar-Wikström +1 more
exaly +4 more sources
Targeting SERCA2 in organotypic epidermis reveals MEK inhibition as a therapeutic strategy for Darier disease [PDF]
JCI Insight, 2023 Mutation of the ATP2A2 gene encoding sarco-endoplasmic reticulum calcium ATPase 2 (SERCA2) was linked to Darier disease more than 2 decades ago; however, there remain no targeted therapies for this disorder causing recurrent skin blistering and ...
Shivam A. Zaver +7 more
doaj +4 more sources
Darier Disease with Psoriasis [PDF]
Medicina, 2022 Darier disease is an autosomal dominant disorder with dark crusty patches and is classified as hereditary acantholytic dermatosis. Keratotic papules and crust are often present on the scalp, forehead, chest, back, upper arms, elbows, groin, and behind ...
Seok-Young Kang +6 more
doaj +3 more sources
Darier disease: the use of dermoscopy in monitoring acitretin treatment [PDF]
Anais Brasileiros de Dermatologia, 2022 Darier disease is an uncommon autosomal dominant inherited disease, caused by a mutation in the ATP2A2 gene. The clinical findings are hyperkeratotic papules on the trunk, scalp, face, and neck, maceration of intertriginous areas, palmar pits, whitish ...
Catalina Silva-Hirschberg +3 more
doaj +3 more sources
Novel mutations in Darier disease and association to self-reported disease severity [PDF]
PLoS ONE, 2017 Darier disease is a rare and severe autosomal dominant skin disease characterised by malodorous keratotic papules in seborrheic areas of the skin. Darier disease affects up to 1 in 30 000 people and is caused by mutations in the ATP2A2 gene, which ...
Ivone U S Leong +2 more
exaly +3 more sources
JAMA Dermatology, 2020 An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears, forehead, chest, back and groin.
Abraham M, Korman, Nima, Milani-Nejad
semanticscholar +6 more sources
Acta Dermato-Venereologica, 2021 Darier disease and Hailey-Hailey disease are severe, monogenetic dermatological disorders with mutations affecting all cells, making them liable to exhibit extra-dermal symptoms.
Philip Curman +5 more
doaj +2 more sources
Dermoscopy as a Noninvasive Diagnostic Tool for Hailey-Hailey Disease and Darier Disease. [PDF]
Dermatol Ther (Heidelb), 2023 Hailey-Hailey disease (HHD) and Darier disease (DD) are rare genetic disorders for which differential diagnosis, especially in less obvious cases, can be difficult.
Kurzeja M +5 more
europepmc +2 more sources
Keratosis follicularis (Darier disease) - clinical characteristics and treatment - a review and update. [PDF]
Postepy Dermatol Alergol, 2023 Darier disease is one of the most common genodermatoses. Although Darier disease was described in 1886, targeted therapies remain unknown. Current literature lacks specific guidelines for treatment of Darier disease. Treatment remains symptomatic and may
Chyl-Surdacka K +4 more
europepmc +2 more sources
Th17-associated cytokines IL-17 and IL-23 in inflamed skin of Darier disease patients as potential therapeutic targets. [PDF]
Nat Commun, 2023 Darier disease (DD) is a rare, inherited multi-organ disorder associated with mutations in the ATP2A2 gene. DD patients often have skin involvement characterized by malodorous, inflamed skin and recurrent, severe infections.
Ettinger M +18 more
europepmc +2 more sources