BannayanRileyRuvalcabaSyndrom

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by the presence of cherry-red spots on the skin, particularly on the palms and soles, and a distinctive facial appearance. The syndrome is caused by mutations in the KRT14 gene, which encodes for keratin 14, a protein involved in the structure and function of the skin. BRRS is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder. The syndrome was first described in 1956 by Dr. Bannayan, Dr. Riley, and Dr. Ruvalcaba, who reported on a family with the characteristic skin lesions and facial features.

Individuals with BRRS typically present with cherry-red spots on the palms and soles, which may be accompanied by similar lesions on other parts of the body. The facial appearance is distinctive, with a broad nasal tip, a wide mouth, and a prominent chin. Other features may include a high-pitched voice, intellectual disability, and a tendency towards obesity. The diagnosis of BRRS is typically made based on the characteristic skin lesions and facial features, although genetic testing can confirm the diagnosis.

There is no specific treatment for BRRS, and management focuses on addressing the symptoms and complications associated with the disorder. This may include the use of moisturizers to prevent dryness and cracking of the skin, and the use of medications to manage obesity and other medical conditions. In some cases, surgical procedures may be necessary to correct the facial appearance. The prognosis for individuals with BRRS is variable, and the severity of the symptoms can vary from person to person. However, with appropriate management, individuals with BRRS can lead full and active lives.