Darier disease (DD) is a rare autosomal dominant dermatosis that has infrequent ocular manifestations, especially those involving the eyelids. The authors describe a patient with long-standing DD who presented with both classic and unique clinical findings. Eyelid biopsy samples studied with electron microscopy demonstrated histopathological changes consistent with DD. The authors postulate how clinical findings not previously reported as "classic" to DD may be associated. To the authors' knowledge, electron micrographs detailing changes associated with DD have not been published for eyelid tissue.
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http://dx.doi.org/10.1097/IOP.0b013e31820cd645 | DOI Listing |
Neuropathol Appl Neurobiol
February 2025
Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain.
Aims: Sarcoendoplasmic reticulum Ca-ATPase 2 (SERCA2), encoded by ATP2A2, is a key protein involved in intracellular Ca homeostasis. The SERCA2a isoform is predominantly expressed in cardiomyocytes and type I myofibres. Variants in this gene are related to Darier disease, an autosomal dominant dermatologic disorder, but have never been linked to myopathy.
View Article and Find Full Text PDFClin Cosmet Investig Dermatol
January 2025
Division of Dermatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Papular acantholytic dyskeratosis (PAD) of the vulva is an uncommon benign condition characterized by multiple hyperkeratotic papules in the anogenital region. First described in 1984, PAD belongs to the spectrum of focal acantholytic dyskeratoses and shares histopathological features with Darier disease and Hailey-Hailey disease. Despite its persistence, PAD is benign, requiring only reassurance in many cases.
View Article and Find Full Text PDFJAAD Int
February 2025
Department of Dermatology, Mayo Clinic, Rochester, Minnesota.
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.
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