AI Article Synopsis
- Gorlin-Goltz syndrome is an autosomal dominant disorder that increases cancer risk and causes various developmental issues, but typically doesn't affect reproductive capabilities.
- The main symptoms include skin tumors (nevoid basal cell epitheliomas), jaw cysts, skeletal defects, and brain calcifications.
- A case study of a 14-year-old patient with this syndrome highlighted issues like microphthalmia, surgical treatment for undescended testicles, and concerns about hypogonadism and infertility, suggesting a need for genetic evaluation in similar cases.
Article Abstract
The Gorlin-Goltz syndrome is a dominant autosomic disorder characterized by cancerigenic predisposition and multiple development defects, apparently without reproductive compromise. The complex is characterized by four primary symptoms, which include nevoid basal cell epitheliomas malignantly prone, keratocystic jaw, skeletal abnormalities and intracranial calcifications. Apparently, reproductive problems reported had been rarely associated with this syndrome. We present the case of a patient with clinic stigmatae of Gorlin-Goltz syndrome, who had a characteristic progress as seen in the literature; he was the fifth product of a 43 year-old female (father was 48 years old); who at birth disclosed right eye microftalmy, bilateral cryptorchidism surgically treated at age of six. At puberty, an odontogenic cyst of the jaw was noted and enucleated. He also showed facial nevi in neck, thorax and abdomen. When he was admitted being 14 years old in our clinic, he had recurrent bilateral cryptorchidism, sexual immatturity and infertility. It is important to take into consideration Gorlin-Goltz stigmatae in cases of hypogonadism in order to recognize a further genetic influence.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Sporadic vs. basal cell nevus syndrome associated odontogenic keratocysts: focus on CT and MRI including DWI.
Oral Radiol
December 2024
Department of Radiology, Nihon University School of Dentistry at Matsudo, 2-870-1 Sakaecho-Nishi, Matsudo, Chiba, 271-8587, Japan.
Purpose: This study aimed to evaluate odontogenic keratocysts associated with basal cell nevus syndrome (BCNS) using computed tomography (CT) and magnetic resornance imaging (MRI) including diffusion-weighted imaging (DWI) and compare them with sporadic cases.
Materials And Methods: This study investigated 17 outpatients who underwent panoramic radiography, CT, and MRI between August 2012 and January 2021. Five of these patients had BCNS had 16 odontogenic keratocysts, for which the authors recorded detailed findings.
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.
Phase 2 Trial of Topical Application of the Hedgehog Inhibitor Patidegib in Patients With Gorlin Syndrome.
Br J Dermatol
November 2024
Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Background: Patients with Gorlin (basal cell nevus) syndrome (GS) have numerous phenotypic abnormalities due to over-activity of the hedgehog (HH) signaling pathway, most commonly due to a heritable mutation in the PTCH1 gene, which encodes a major inhibitor of this pathway. HH inhibitors (HHi) taken orally can reverse some of the manifestations, most prominent of which is the development of numerous cutaneous basal cell carcinomas (BCCs). In order to improve the benefit:risk ratio, we have developed a gel containing a small cyclopamine-derived molecule that can be applied topically in expectation that this mode of delivery can reduce the burden of BCCs without producing the systemic adverse effects that cause patients to stop treatment with oral HHis.
View Article and Find Full Text PDFNeurocritical Complications of Basal Cell Carcinoma With Intracranial Invasion.
Cureus
October 2024
Neurocritical Care, Thomas Jefferson University Hospital, Philadelphia, USA.
Basal cell carcinoma (BCC) is the most common type of skin cancer, accounting for the majority of non-melanoma-type skin cancers. BCC is slow-growing and locally aggressive but rarely metastasizes.Although scarce, important consequences of untreated or recurrent BCC of the scalp are direct invasion into the skull, meninges, and/or brain.
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!