Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition characterized by swollen, painful, inflamed lesions in the axillae, groin, armpits and other parts of the body that contain apocrine glands. The aetiology of HS is unknown, and earlier reports indicate genetic locus responsible for this phenotype on chromosome 1p21.1-1q25.3, but no causative gene(s) have yet been identified. We studied two large multigeneration pedigrees (UR251 and UR252), in which the condition appeared to segregate as an autosomal dominant trait with 100% penetrance. No skipping of generations was observed in either family. Pedigrees consist of 96 individuals, including 25 affected individuals. Because of squamous cell carcinoma, a few deaths were reported in family UR0251. The locus on chromosome 1p21.1-1p25.3, known from previous studies is associated with HS, was excluded in both families by linkage and haplotype analyses. Further studies are in progress to identify the region that is associated with the phenotype in these families.
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http://dx.doi.org/10.1111/j.1600-0625.2010.01088.x | DOI Listing |
Arch Dermatol Res
January 2025
Center for Dermatology Research, Department of Dermatology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
J Eur Acad Dermatol Venereol
January 2025
Centre for Molecular Medicine and Biobanking, University of Malta, Msida, Malta.
J Cutan Pathol
January 2025
Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
The term autoinflammatory keratinization diseases (AIKDs) was recently proposed as a unifying concept for diseases characterized by inflammation in the epidermis and upper dermis which leads to hyperkeratosis, caused by genetic perturbations of the innate immune system. We present a case of a patient with hidradenitis suppurativa and porokeratosis, two AIKDs, followed by a review of these conditions as well as other AIKDs. This case was distinguished by hypertrophic porokeratoses involving cystic hair follicles, showing histopathologic features of both conditions within single biopsy specimens.
View Article and Find Full Text PDFActas Dermosifiliogr
December 2024
Servicio de Dermatología. Hospital Universitario de Guadalajara, Guadalajara, España.
Autoimmun Rev
December 2024
Rheumatology Department, Guy's and St Thomas' NHS Trust, London, United Kingdom.
Introduction: The use of Janus kinase inhibitors (JAKis) in immune-mediated inflammatory diseases (IMIDs) beyond licence is expanding rapidly. The aim of this scoping review was to identify and present the available evidence on the efficacy of JAKis in all conditions without marketing authorisation.
Methods: Through a systematic literature search we identified studies including 5 or more patients that assessed the use of any JAKi for any efficacy outcome.
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