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Scalp Cobblestoning in Darier's Disease.
Indian Dermatol Online J
July 2024
Department of Pathology, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.
A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.
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 PDFPapular Acantholytic Dyskeratosis of the Vulva: A Case Report and Literature Review.
Clin 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 PDFCarbon dioxide laser treatment for Darier disease.
JAAD Int
February 2025
Department of Dermatology, Mayo Clinic, Rochester, Minnesota.
Grenz Ray Therapy for Darier Disease and Hailey-Hailey Disease: A Case Series of Three Patients.
Australas J Dermatol
December 2024
Skin Health Institute, Melbourne, Victoria, Australia.
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