Oral genodermatoses includes a spectrum of inherited dermatological disorders with varying oral mucosal manifestations. Darier's disease is an autosomal dominant disorder with defect in desmosomal attachment. This case report presents oro cutaneous manifestations of Darier's disease in a 40 year old female patient with a detailed review on etiology, pathogenesis, differential diagnosis and management of the condition.
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http://dx.doi.org/10.1016/j.jobcr.2018.05.001 | DOI Listing |
Australas J Dermatol
December 2024
Skin Health Institute, Melbourne, Victoria, Australia.
Qual Life Res
December 2024
Department of Health Policy, Corvinus University of Budapest, 8 Fővám Square, Budapest, Hungary, 1093.
Objectives: Limited evidence is available about the content validity of the EQ-5D-5L in rare skin fragility disorders. Previous research has demonstrated that the skin irritation and self-confidence additional dimensions (bolt-ons) improve the content validity of the EQ-5D-5L in psoriasis and atopic dermatitis. Our aim was to investigate the content validity of the EQ-5D-5L and the two bolt-ons in Darier's disease and Hailey-Hailey disease.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Dermatology and Venereology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gröna stråket 16, Gothenburg, SE-413 45, Sweden.
Background: 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 skin cancer.
Results: Patients diagnosed with Darier disease were identified from the patient registry of Sahlgrenska University Hospital (Gothenburg, Sweden) in 2016-2020.
Clin Cosmet Investig Dermatol
December 2024
Institute of Dermatology, Guangzhou Medical University, Guangzhou, Guangdong, 510095, People's Republic of China.
Darier's disease (DD) is a rare chronic keratinizing skin disease characterized by dyskeratosis of epidermal cells. We report a case of DD with a medical history spanning over 20 years and recurring symptoms. Pathologically confirmed DD was treated with a combination of abrocitinib and acitretin, resulting in rapid symptom resolution within 2 weeks.
View Article and Find Full Text PDFJ Eur Acad Dermatol Venereol
November 2024
Department of Dermatology and Venereology, Kepler University Hospital Linz, Linz, Austria.
Darier disease is a rare autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene encoding for sarcoendoplasmic reticulum Ca ATPase isoform 2. The skin disease is characterized by a chronic relapsing course with recurrent reddish-brown keratotic papules and plaques located mainly in seborrhoeic areas. Due to chronic inflammation and epidermal barrier defects of the skin, patients often develop severe bacterial and viral superinfections.
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