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http://dx.doi.org/10.23736/S2784-8671.25.08197-6 | DOI Listing |
Ned Tijdschr Geneeskd
August 2025
Amsterdam UMC,afd. Dermatologie, Amsterdam.
Neurocutaneous dysesthesia manifests as abnormal sensations, such as itching, pain, or burning, often without visible skin lesions. The condition is caused by peripheral or central nerve damage or compression. There are many different forms of neurocutaneous dysesthesia, depending on the location and the nerves involved.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
August 2025
Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Background: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. Due to its rarity, there are currently few methods that can be applied to facilitate its diagnosis during the prenatal period. Although a prenatal ultrasonographic examination will detect early signs of the disease, there are few reports on specific prenatal ultrasonographic features of ectodermal dysplasia.
View Article and Find Full Text PDFGene
September 2025
Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, School of Life Sciences, Shandong University, Qingdao, Shandong 266237, China. Electronic address:
TSPEAR is a member of the EAR (epilepsy-associated repeat) protein family with poorly characterized function. Several lines of evidence suggest that mutations in the human TSPEAR gene are associated with hearing loss or ectodermal dysplasia. Although tooth abnormalities and a reduced capacity for caudal fin regeneration were observed in the Tspeara;Tspearb knockout zebrafish model, there have been no reports of the Tspear knockout mouse model to date, which hampers further investigation of its physiological role.
View Article and Find Full Text PDFClin Genet
July 2025
Departments of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.
Hypohidrotic ectodermal dysplasias are a genetic condition affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands, resulting from variations in the EDA, EDAR, EDARADD, and WNT10A genes. This study examined 32 cases from 25 unrelated families from Türkiye, identifying seven novel variants in the EDA, EDAR, and WNT10A genes. The distribution of genetic alterations across the cohort revealed that 44% of the families (11/25) harbored variants in EDA, whereas EDAR and WNT10A variants were identified in 32% (8/25) and 24% (6/25) of families, respectively.
View Article and Find Full Text PDFFront Immunol
July 2025
Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
Introduction: Cardiofaciocutaneous syndrome (CFCS) is a rare syndromic disorder caused by germline mutations affecting the RAS/MAPK pathway. It is characterized by distinctive craniofacial dysmorphism, congenital heart defects, skin abnormalities, gastrointestinal dysfunction, neurocognitive impairment, and epilepsy. Emerging evidence suggests an association with hypogammaglobulinemia, but a comprehensive characterization of immunological abnormalities in CFCS is lacking.
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