Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Bannayan-Riley-Ruvalcaba syndrome (BRRs) is an overgrowth disorder associated with mutations in the PTEN gene.
• Key features include macrocephaly, pigmented penile maculae, lipomas, hemangiomas, and intestinal polyps.
• Increased risk of tumors and potential thyroid involvement (goiter, adenoma, cancer, Hashimoto's thyroiditis) are noted.

Observation:

• Two BRRs cases illustrate the syndrome's wide phenotypic spectrum, from severe to subtle presentations.
• One patient had severe manifestations, while the other had mild signs and no family history.
• Both patients developed thyroid disorders identified through ultrasound screening.

Findings:

• Thyroid nodules and intestinal polyps appear to be the most frequent manifestations of BRRs.
• The syndrome can present with subtle clinical signs, making diagnosis challenging.
• PTEN gene mutations underlie the overgrowth and tumor predisposition in BRRs.

Implications:

• Clinicians, particularly pediatric endocrinologists, should recognize the subtle presentations of BRRs.
• Routine thyroid ultrasound screening is recommended for early detection of thyroid disorders in BRRs patients.
• Awareness of common features like thyroid nodules and intestinal polyps aids in timely diagnosis and management.