98%
921
2 minutes
20
Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439671 | PMC |
http://dx.doi.org/10.4103/0975-7406.155903 | DOI Listing |
Br J Haematol
September 2025
Platform of Molecular Analysis for Mastocytosis and MCAD (CEREMAST), Department of Biological Hematology, Pitié-Salpêtrière Hospital, AP-HP, Paris Sorbonne University, Paris, France.
Mastocytosis is categorized into cutaneous mastocytosis (CM), mast cell sarcoma and systemic mastocytosis (SM). Within SM, indolent SM (ISM) is the more frequent subtype. Adult patients with CM but without an extracutaneous biopsy are classified as having mastocytosis in the skin (MIS), a provisional diagnosis.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
August 2025
Department of Otolaryngology - Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Objective: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare congenital disorder characterized by vascularizing keratitis, hyperkeratosis, and profound sensorineural hearing loss. Skin debris and chronic otitis may render conventional hearing aids ineffective, and visual impairment may preclude use of sign language. This study assesses the unique challenges and outcomes associated with cochlear implantation (CI) in this patient population.
View Article and Find Full Text PDFBr J Dermatol
September 2025
Université de Paris, INSERM U1016, Institut Cochin, CNRS UMR8104, Faculté de Médecine Cochin-Port Royal, Paris, France.
EBioMedicine
August 2025
Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France. Electronic address:
Background: Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare genetic multisystemic fibrosing disorder caused by FAM111B gene mutations. Given its rarity, the molecular underpinnings of POIKTMP remain elusive. FAM111B, a trypsin-like serine protease, initially studied in cancer, exhibits germline variants not consistently linked to tumours, suggesting broader functions beyond cell proliferation.
View Article and Find Full Text PDFJ Dtsch Dermatol Ges
August 2025
Gray Faculty of Medical & Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.