Gorlin-Goltz syndrome: A rare case report
Chetan A Pol1, Suvarna K Ghige2, Ritesh R Kalaskar2
1Department of Oral Pathology and Microbiology, Government Dental College and Hospital, Nagpur, Maharashtra, India.
Contemporary Clinical Dentistry
|January 10, 2014
Summary
Gorlin-Goltz syndrome, a rare inherited disorder, presents with basal cell carcinomas and jaw cysts. Early diagnosis and treatment are crucial for managing complications like oromaxillofacial deformities.
Area of Science:
- Genetics and Developmental Biology
- Oral and Maxillofacial Surgery
- Dermatology
Background:
- Gorlin-Goltz syndrome is an autosomal dominant disorder.
- It is characterized by basal cell carcinomas, odontogenic keratocysts (OKCs), and skeletal abnormalities.
Observation:
- A rare case in a 13-year-old male is presented.
- The patient exhibited multiple OKCs causing significant lower jaw disfigurement.
- Dental issues included displacement and malocclusion.
Findings:
- Multiple odontogenic keratocysts were the primary cause of the patient's oromaxillofacial deformities.
- The syndrome manifested with characteristic basal cell carcinomas and musculoskeletal malformations.
Implications:
- Early diagnosis and intervention are vital for Gorlin-Goltz syndrome patients.
- Timely management can mitigate severe complications such as malignancy and extensive oromaxillofacial destruction.
- This case highlights the importance of recognizing OKC-related disfigurement in syndromic patients.
Related Concept Videos
01:43Sex-linked Disorders
94.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
94.4K
01:33Pleiotropy
31.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.2K
01:27Glucose Transporters
15.2K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
15.2K
01:21Smooth Endoplasmic Reticulum
6.6K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
6.6K
01:43Sex Linked Disorders
28.8K
28.8K
01:43Incomplete Dominance
19.0K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
19.0K