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A Case of Segmental Darier Disease.
Acta Dermatovenerol Croat
November 2022
Nika Franceschi, MD, Sestre Milosrdnice University Hospital Center, Zagreb, Croatia;
Article Synopsis
- - Darier disease (DD) is a rare genetic skin disorder caused by mutations in the ATP2A2 gene, characterized by skin lesions, nail abnormalities, and mucosal changes.
- - A case study of a 40-year-old woman revealed pruritic skin lesions concentrated on one side of her body, leading to a diagnosis of localized segmental DD after a biopsy showed characteristic cell changes.
- - The condition typically appears between ages 6 and 20 and presents with crusty, itchy papules; it results from calcium imbalance and loss of cell adhesion due to impaired ATP2A2 gene function.
Dermoscopy of Zosteriform and Swirling Pattern Type 1 Segmental Darier Disease.
Acta Dermatovenerol Croat
November 2022
Anamaria Balić, MD, University Hospital Centre Zagreb Department of Dermatology and Venereology, Kišpatićeva 12, Zagreb, Croatia;
Article Synopsis
- Segmental Darier disease (DD) is a rare skin condition involving mutations in the calcium ATPase pump, with two types: type 1, which follows Blaschko's lines, and type 2, which features increased severity in generalized cases.
- Type 1 segmental DD is challenging to diagnose due to its late onset, lack of family history, and similar features to other skin conditions like lichen planus and psoriasis.
- The report documents two cases, highlighting symptoms, dermoscopic findings, histopathological correlations, and effective treatment with tretinoin gel for the first patient.
A case of segmental form of type 1 mosaic Darier's disease.
Acta Dermatovenerol Alp Pannonica Adriat
March 2022
Department of Dermatovenereology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Darier's disease is a rare genetic disorder with autosomal dominant inheritance. It is characterized by hyperkeratotic papules in seborrheic areas. Associated abnormalities include nail abnormalities and changes in the mucous membranes.
View Article and Find Full Text PDFWhole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.
Exp Dermatol
June 2022
Department Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Article Synopsis
- An 82-year-old woman developed painful skin lesions on her abdomen, initially diagnosed as Varicella-Zoster, but showed no response to antiviral treatment.
- A skin biopsy revealed characteristics linked to acantholytic dyskeratotic acanthoma, leading to further testing.
- Whole-transcriptome sequencing identified mutations in the ATP2A2 gene, confirming the diagnosis of segmental Darier disease and showcasing the effectiveness of RNA-Seq for accurate diagnosis.
Atraumatic forearm swelling in a patient with poorly controlled asthma.
Respir Med Case Rep
July 2021
Pulmonary, Critical Care and Sleep Medicine, Walter Reed National Military Medical Center, Bethesda, MD, USA.
We present a case of sarcoidosis presenting as unilateral forearm swelling. A 65-year-old male with a long history of asthma presented with unexplained left forearm and hand swelling. Over many years, chest imaging had been devoid of adenopathy or parenchymal findings suspicious for sarcoid, until after the extremity findings emerged.
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