Results 11 to 20 of about 9,158,896 (219)
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
Subcellular compartmentalization of STIM1 for the distinction of Darier disease from Hailey‐Hailey disease [PDF]
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2022 Darier disease (DD) and Hailey‐Hailey disease (HHD) are rare disorders caused by mutations in the ATPase, Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2 (ATP2A2) and ATPase Ca2+ Transporting Type 2C, Member 1 (ATP2C1) gene, respectively, which ...
Hedwig Stanisz +5 more
openalex +2 more sources
Darier disease is associated with neurodegenerative disorders and epilepsy. [PDF]
Sci RepDarier disease (DD) is a rare monogenetic skin disorder with limited data on its potential association with neurological disorders. This study aimed to investigate the association between DD and neurological disorders, specifically Parkinson's disease ...
Curman P +5 more
europepmc +2 more sources
Darier-White disease in siblings responding to isotretinoin
Indian Dermatology Online Journal, 2010 Darier-White disease (keratosis follicularis) is a rare disorder of keratinization involving the epidermis, mucous membranes, and nails. It is said to occur as a result of mutation in the ATP2A2 gene located on chromosome 12q23-24.1.
Ramesh M Bhat +3 more
doaj +2 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 +2 more sources
Diagnosis and management of vulvar Darier disease: A case report [PDF]
Case Reports in Women's Health, 2023 Darier disease is an autosomal dominant disorder with hyperkeratotic papules affecting primarily seborrheic areas of the upper chest, back, forehead, scalp, nasolabial folds, ears, and, less frequently, the oral mucosa.
Ipek Evruke +3 more
doaj +2 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.
A. Korman, N. Milani-Nejad
semanticscholar +3 more sources
A Peculiar Case of Darier Disease in Blaschkoid Distribution. [PDF]
Dermatol Pract Concept, 2020 Darier disease (DD) is an autosomal dominant genodermatosis belonging to the group of keratinization disorders that can affect epidermis, nails and mucous membranes, caused by a mutation in the ATP2A2 gene on chromosome 12q2324.1, which has an important ...
Peccerillo F +5 more
europepmc +2 more sources
Metabolic phenotype in Darier disease: a cross-sectional clinical study. [PDF]
Diabetol Metab Syndr, 2020 Background Human data supporting a role for endoplasmic reticulum (ER) stress and calcium dyshomeostasis in diabetes is scarce. Darier disease (DD) is a hereditary skin disease caused by mutations in the ATP2A2 gene encoding the sarcoendoplasmic ...
Ahanian T +6 more
europepmc +2 more sources
Type one segmental Darier′s disease
Indian Journal of Dermatopathology and Diagnostic Dermatology, 2015 A 50-year-old woman presented with multiple pruritic hyperpigmented papules in a zosteriform pattern involving the abdomen and back on the left side and in a linear pattern involving the left arm and forearm of 2 years duration.
Arunprasath Palanisamy +3 more
doaj +2 more sources