Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ad.2018.12.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Case Report: Dental treatment under general anesthesia and dental management of a child with congenital ichthyosis.
Front Dent Med
October 2024
Division of Pediatric Dentistry, Department of Oral Health and Development Sciences, Tohoku University Graduate School of Dentistry, Sendai, Japan.
Congenital ichthyosis is a disease in which the stratum corneum on the surface of the skin becomes thick from the time of the fetus and the barrier function of the skin is impaired. Congenital ichthyosis is a genetic disorder that causes ectodermal abnormalities and sometimes affects skin, nails, and tooth enamel. Therefore, some patients require special care in their daily life and during dental treatments.
View Article and Find Full Text PDFBlended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
Ann Clin Transl Neurol
February 2025
Department of Neurology, Movement Disorders Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.
View Article and Find Full Text PDFImpaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
Ann Intern Med
January 2025
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, and School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel (H.B.F.).
Article Synopsis
- Yellow Nail Syndrome (YNS) is a rare condition marked by yellow, malformed nails, swelling due to lymphedema, and chronic lung issues, typically presenting in adulthood, with potential genetic links suggested.
- Researchers conducted genetic sequencing and expression studies on 11 patients (6 with congenital YNS and 5 with sporadic YNS) to investigate its underlying causes.
- Findings revealed biallelic variants in genes related to the Wnt/planar cell polarity pathway in congenital cases, indicating that defects in cellular organization could be key to understanding YNS's development, though the study's small sample size is a limitation.
Yellow nail syndrome linked to a mediastinal lipoma: a case report.
J Med Case Rep
December 2024
Department of Pulmonology, Pius-Hospital Carl Von Ossietzky University, Oldenburg, Germany.
Article Synopsis
- Yellow nail syndrome is a rare condition marked by yellow nails, respiratory issues, and swelling, primarily due to lymphatic drainage problems and with a prevalence of less than 1 in a million.
- A case study of a 73-year-old man revealed symptoms like shortness of breath and swollen limbs, leading to a diagnosis of yellow nail syndrome, likely caused by a mediastinal lipoma affecting the thoracic duct.
- Treatment included lymphatic embolization after conservative measures failed, highlighting the importance of identifying underlying causes and available interventions.
Concurrent Eosinophilia Increases the Prevalence of Nail Abnormalities and Severity of Hair Loss in Patients With Alopecia Areata.
Biomed Res Int
September 2024
Department of Dermatology Cleveland Clinic, Cleveland, Ohio, USA.
The potential link between alopecia areata (AA) and eosinophilia is unclear, as well as its clinical manifestations in these patients' subsets. This is a monocentric retrospective observational study in which clinical and laboratory data were summarized and evaluated the AA subset with concurrent eosinophilia. In a sample of 205 AA patients, 38 (18.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!