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Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.
J Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
View Article and Find Full Text PDFA case of nevoid basal cell carcinoma syndrome with segmentally unilaterally arranged hypertrichosis and circumscribed palmar hypokeratosis histologically presenting as basal cell carcinoma.
J Dermatol
December 2024
Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan.
Bifid rib in bioarchaeological material on the example of new cases from Poland with literature review and proposal of classification.
Sci Rep
December 2024
Department of Anthropology, Faculty of Biology and Environmental Protection, University of Lodz, Banacha Str. 12/16, Łódź, 90-237, Poland.
Article Synopsis
- - The study examines the rare skeletal anomaly known as bifid rib, which appears in less than 1.5% of the population and faces challenges in identification due to postmortem damage and similarity to other conditions.
- - It presents five cases of rib bifurcation from four individuals across different populations in the Kujawy region of Poland, analyzed through morphological and paleoradiological methods.
- - The research also critiques existing evidence linking bifurcated ribs to naevoid basal cell carcinoma syndrome and proposes a new way to classify this anomaly in osteological studies.
A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report.
Medicine (Baltimore)
November 2024
Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
Article Synopsis
- - The study focuses on Nevoid basal cell carcinoma syndrome (NBCCS), a rare condition linked to high rates of basal cell carcinoma, potentially caused by mutations in the PTCH1 gene.
- - Researchers identified a new nonsense mutation in the PTCH1 gene in a mother and her daughter, both of whom also had ovarian mature teratomas.
- - Treatment outcomes showed persistent issues for both individuals, underscoring the complex effects of the mutation and related health challenges.
Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel.
J Oral Pathol Med
January 2025
Department of Biochemistry, Tokyo Dental College, Chiyoda-ku, Tokyo, Japan.
Background: Odontogenic keratocyst (OKC) is a partial manifestation of Gorlin syndrome (GS), resulting from the abnormal activation of the hedgehog signaling pathway. OKC predominantly occurs in young adults and is mostly asymptomatic at the time of initial diagnosis. As OKC is asymptomatic, GS can be challenging to diagnose in certain instances.
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