Nevoid basal-cell carcinoma syndrome

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Nevoid basal-cell carcinoma syndrome
Synonyms	Gorlin syndrome, basal cell nevus syndrome
Pronounce
Specialty	Dermatology, Genetics
Symptoms	Multiple basal cell carcinomas, jaw cysts, skeletal abnormalities, palmar pits
Complications	Increased risk of skin cancer, medulloblastoma
Onset	Childhood to early adulthood
Duration	Lifelong
Types
Causes	Mutations in the PTCH1 gene
Risks	Family history, genetic predisposition
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Basal cell carcinoma, xeroderma pigmentosum, Rombo syndrome
Prevention	Sun protection, regular skin examinations
Treatment	Surgical removal of tumors, vismodegib, radiation therapy
Medication	Vismodegib, sonidegib
Prognosis	Variable, depends on severity and management
Frequency	1 in 31,000 people
Deaths	Rare, related to complications

Nevoid basal-cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare genetic disorder that primarily affects the skin, nervous system, and eyes. It is characterized by the development of multiple basal cell carcinomas (BCCs), odontogenic keratocysts in the jaw, palmar or plantar pits, and various other symptoms.

Signs and Symptoms

NBCCS is associated with a variety of signs and symptoms, the most common of which are multiple BCCs. These usually appear in adolescence or early adulthood and can be triggered by minimal sun exposure. Other common features include odontogenic keratocysts, which are benign cysts that can cause significant jaw swelling and tooth displacement. Palmar or plantar pits are also common, appearing as small, punctate depressions in the skin of the palms of the hands or soles of the feet.

Causes

NBCCS is caused by mutations in the PTCH1 gene, which is involved in controlling cell growth and division. This mutation leads to uncontrolled cell growth, particularly in the skin, leading to the development of BCCs.

Diagnosis

Diagnosis of NBCCS is based on clinical criteria, including the presence of multiple BCCs or a single BCC at a young age, odontogenic keratocysts, palmar or plantar pits, and a family history of the syndrome. Genetic testing can confirm the diagnosis.

Treatment

Treatment for NBCCS is primarily focused on managing the symptoms. This can include surgery to remove BCCs or odontogenic keratocysts, and regular monitoring for new symptoms.

See Also

• Basal cell carcinoma
• Odontogenic keratocyst
• PTCH1

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