Results 11 to 20 of about 4,315 (233)
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 +4 more
doaj +3 more sources
Patients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study [PDF]
Orphanet Journal of Rare DiseasesBackground Darier disease is a genodermatosis which manifests as hyperkeratotic papules and superficial erosions mainly in seborrheic skin areas. This retrospective registry-based cohort study aimed to estimate the association between Darier disease and ...
Rahime Inci +4 more
doaj +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-White Disease with Sensorineural Hearing Loss – A Case Report
Rwanda Medical Journal, 2022 Darier-White disease (keratosis follicularis) is a rare autosomal dominant genodermatosis characterized by hyperkeratotic papules and plaques in seborrheic areas, often presenting with nail abnormalities and occasionally mucous membrane changes ...
E. B. Henshaw +2 more
doaj +4 more sources
Type 1 Segmental Darier Disease: Case Report and Discussion of the Treatment Options [PDF]
Case Reports in Dermatology, 2020 Darier disease is a rare type of autosomal dominant genodermatosis, and it is caused by a mutation in the gene coding for the endoplasmic reticulum membrane calcium pump Ca2+-ATPase type 2, leading to compromised intercellular adhesion.
Sahar Hasan Alsharif +2 more
doaj +2 more sources
Beyond the skin involvement in Darier disease: A complicated neuropsychiatric phenotype [PDF]
Clinical Case Reports, 2021 Psichiatric illness such as depression, schizophrenia and cognitive deficiency are frequently associated with the Darier Disease. Physicians should be aware of such association to allow prompt diagnosis and early interventions of potentially life ...
Federica Li Pomi +7 more
doaj +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
Darier disease: Histopathology revisited
Indian Journal of Pathology and MicrobiologyDarier disease (DD) is a rare genodermatosis. Literature on this topic is overwhelmingly dominated by case reports with rare clinical presentations, which have mentioned the histopathologic features briefly.
Archana Manohar +3 more
doaj +2 more sources
A case of zosteriform Darier′s disease with seasonal recurrence
Indian Dermatology Online Journal, 2013 Darier′s disease is an uncommon genodermatosis characterized by keratotic papules in seborrheic distribution. The disease can rarely present in unilateral zosteriform pattern, as a mosaic form following the Blaschko′s line. We present a 35-year-old woman
Lalit K Gupta +3 more
doaj +2 more sources