[Basal cell nevus syndrome and gigantism]

Area of Science:

• Genetics
• Endocrinology
• Dermatology

Background:

• Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder.
• It is characterized by a specific set of clinical features, including multiple basal cell carcinomas, jaw keratocysts, skeletal anomalies, and palmoplantar pitting.
• Genetic mutations, typically in the PTCH1 gene, underlie the pathogenesis of BCNS.

Observation:

• A 13-year-old female presented with a highly expressive phenotype of basal cell nevus syndrome.
• The patient exhibited all five major diagnostic criteria: basal cell nevi, jaw cysts, significant skeletal abnormalities (bifid ribs, block vertebrae, rachischisis), ectopic calcifications (falx cerebri, tentorium cerebelli, interclinoid ligaments), and palmoplantar pits.
• Additionally, she presented with a right ovarian fibroma containing calcified zones and multiple smaller fibromas on the left ovary, along with features of giantism.

Findings:

• The co-occurrence of basal cell nevus syndrome with ovarian fibromas and giantism represents a previously undocumented clinical association.
• The extensive calcification within the ovarian fibroma is a notable finding.
• The patient's presentation underscores the wide spectrum of expressivity in BCNS.

Implications:

• This case expands the known clinical manifestations of basal cell nevus syndrome.
• It suggests potential endocrine or developmental pathways that may be concurrently affected in individuals with BCNS.
• Further research into the genetic and molecular underpinnings of these combined findings may offer new insights into BCNS pathogenesis and associated conditions.