Skeletal imaging of Gorlin's syndrome

Area of Science:

• Genetics
• Radiology
• Dermatology

Background:

• Gorlin's syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant inherited disorder.
• It is characterized by a wide range of developmental abnormalities affecting multiple organ systems.

Observation:

• A 26-year-old female presented with chronic hip pain, leading to bone scintigraphy.
• Radiographic and scintigraphic findings revealed multiple characteristic features of Gorlin's syndrome.
• These included jaw keratocysts, falcine calcifications, rib deformities, Sprengel deformity, and a sclerotic bone lesion.

Findings:

• The patient's skeletal abnormalities were prominent, including short and deformed ribs and a sclerotic bone lesion.
• Additional findings consistent with Gorlin's syndrome were observed in dermatologic, cardiac, and gynecological systems.
• The case underscores the multisystemic nature of the syndrome, with skeletal findings being particularly illustrative.

Implications:

• This case emphasizes the importance of recognizing the diverse clinical manifestations of Gorlin's syndrome.
• Physicians, especially radiologists and other imaging specialists, must be aware of these findings for accurate diagnosis.
• Early and accurate diagnosis facilitates appropriate management and genetic counseling for patients with Gorlin's syndrome.