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A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
J Eur Acad Dermatol Venereol
February 2024
Department of Dermatology and Allergology, ERN-Skin Center, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Article Synopsis
- Hereditary palmoplantar keratodermas (hPPKs) are skin disorders marked by thickening of the skin on palms and soles, linked to genetic mutations in protease inhibitors SERPINA12 and SERPINB7.
- The study utilized whole-exome sequencing to investigate the genetic basis and clinical features of these conditions, identifying a new SERPINA12 variant in European patients.
- Findings suggest that patients with mutations in both genes exhibit similar symptoms, making genetic testing essential for accurate diagnosis since the conditions cannot be differentiated based solely on clinical presentation.
Aquagenic wrinkling of the palms in a cohort of Greek children diagnosed with cystic fibrosis: Associated clinical parameters.
J Eur Acad Dermatol Venereol
November 2023
Department of Cystic Fibrosis, "Aghia Sofia", Children's Hospital, Athens, Greece.
Background: Aquagenic wrinkling of the palms (AWP) is an excessive and early palmar wrinkling occurring after brief immersion to water (BIW), and has been reported as a frequent finding among Cystic Fibrosis (CF) patients.
Objectives: To investigate any associations of CF patients presenting AWP with other disease characteristics and explore the pathomechanism of AWP phenomenon.
Methods: We evaluated AWP in CF patients and assessed the AWP parameters of palmar wrinkling, oedema, papules, pruritus and pain at 3, 7 and 11 min after a BIW test with other disease characteristics.
A Systematic Review of Aquagenic Urticaria-Subgroups and Treatment Options.
J Allergy Clin Immunol Pract
August 2022
Institute of Allergology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; Fraunhofer Institute for Translational Medicine and Pharmacology (ITMP), Allergology and Immunology, Berlin, Germany. Electronic address:
Background: Aquagenic urticaria (AquaU) is a rare variant of chronic inducible urticaria where wheals occur after skin contact with water. Information on clinical manifestations and treatment outcomes is limited, which makes the management of AquaU challenging.
Objective: To systematically review disease features and relevant triggers of AquaU and patients' response to treatment.
Yin and Yang of skin microbiota in "swimmer acne".
Exp Dermatol
June 2022
Clinical Laboratory for Epidemiology and Applied Research in Skin (CLEARS), Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
Cutibacterium acnes (C. acnes) is an organism implicated in the pathogenesis of acne. Despite regular immersion in antimicrobial chlorine, adolescent swimmers suffer from acne and tend to be resistant to standard therapies.
View Article and Find Full Text PDFAtypical familial aquagenic syringeal acrokeratoderma.
J Cutan Pathol
November 2020
Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.
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