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History
A 36-year-old man presents with multiple skin lesions, which have gradually developed over the last two years. He had been diagnosed with a basal cell carcinoma (BCC) over his left cheek 10 years previously, and this had been removed. He is otherwise well but has undergone numerous dental procedures in the past. His father also had multiple BCCs.
Examination
He has multiple erythematous patches with overlying scale on his anterior and posterior trunk (Fig. 56.1) and three similar lesions on his face. Examination of his hands reveals sharply marginated, depressed lesions 1-2 mm in diameter (Fig. 56.2).
Questions
• What is this syndrome?
• What are the other features?
• How should this patient be managed?
Medicine
This patient has Gorlin’s syndrome (basal cell naevus syndrome). The history of a previ-ous BCC at such an early age combined with now several likely superficial BCCs, which appear as erythematous patches with overlying scale, is highly suggestive of the diagno-sis. The palmar pits and family history are also relevant.
Gorlin’s syndrome is an autosomal dominant disease caused by a mutation in the patched (PTCH) gene on chromosome 9q (9q22). This gene normally functions as a tumour sup-pressor, so when defective it allows basal cell carcinomas to develop. It usually presents in late childhood, although some features are congenital.
BCCs can occur from early adolescence and continue throughout life. They are more common on sun-exposed sites, but also occur in unexposed areas and are usually mul-tiple. The most common cutaneous lesions are superficial and nodular BCCs, although morphoeic BCCs can also occur. Small indentations on the palmar surfaces which are pin-point to several millimeters across are present in 50 per cent of patients. Developmental abnormalities include frontal bossing, odontogenic keratocysts (which was the reason for this patient’s dental procedures), bifid or splayed ribs, scoliosis and kyphosis. Eye lesions including strabismus can also occur. Ovarian fibromas and teratomas have also been reported.
Gorlin’s syndrome is an important condition to recognize owing to potential develop-ment of literally hundreds of BCCs in one lifetime, which leads to multiple excisions and considerable scarring. Patients with suspected Gorlin’s syndrome should be referred for genetic counselling. Life-long photoprotection and follow-up is the mainstay of treatment.
Management of superficial BCCs, which are the main type in these patients, includes topical therapy with the immunomodulator imiquimod 5% cream. Destructive meth-ods, such as cryotherapy with liquid nitrogen and curettage and cautery, are effective.
Photodynamic therapy (PDT) and surgical excision are also therapeutic options.
KEY POINTS
• Gorlin’s syndrome is an autosomal dominant disease caused by a mutation in the PTCH gene.
• Patients develop multiple BCCs.
• Other manifestations include palmar pits, frontal bossing and jaw cysts.
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