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Article Synopsis
- Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation that causes a persistent reticular and purplish skin appearance, and the text discusses two cases of CMTC.
- The first case is of a 13-month-old boy with a specific skin lesion and a biopsy showing mast cells, confirming CMTC and a solitary skin tumor, while the second case is a newborn with a CMTC lesion who later developed other tumors.
- CMTC is generally benign, but it may coexist with other conditions, so medical assessments should check for additional malformations related to the condition.
Nail Whispers Revealing Dermatological and Systemic Secrets: An Analysis of Nail Disorders Associated With Diverse Dermatological and Systemic Conditions.
Cureus
September 2023
Dermatology, Venereology and Leprology, B.J. Medical College and Civil Hospital, Ahmedabad, IND.
Article Synopsis
- Nail disorders cover various conditions, including infections and skin diseases, making their clinical evaluation vital for accurate diagnosis and treatment.
- This study at B.J. Medical College analyzed 300 patients with nail changes over two years, using thorough examinations and assessments to gather data.
- Findings revealed a higher prevalence of nail disorders in females (57%) and the most common condition was onychomycosis (24.33%), especially among housewives aged 21-40 years.
Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.
Am J Med Genet C Semin Med Genet
June 2023
Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
Article Synopsis
- Autosomal dominant skin disorders can exhibit pronounced mosaic involvement in neonates, stemming from early loss of heterozygosity in the embryo shortly after fertilization.
- Some syndromes, like Brooke-Spiegler and Hornstein-Knickenberg, show early-onset symptoms that can foreshadow later, more widespread manifestations of the disorder.
- Conditions like glomangiomatosis and Darier disease demonstrate that neonatal mosaic lesions can be early indicators of nonsegmental skin issues emerging much later in life.
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.
Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome.
Clin Exp Dermatol
October 2022
Department of Dermatology, Cleveland Clinic Foundation, Cleveland, OH, USA.
We describe a patient with the keratosis pilaris atrophicans variant of cicatricial alopecia in conjunction with cardiofaciocutaneous syndrome.
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