MULTIPLE HEREDITARY INFUNDIBULOCYSTIC BASAL CELL CARCINOMA SYNDROME

By Gary M. White, MD


Multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is characterized by numerous infundibulocystic BCCs (IBCCs), mostly of the face, medulloblastomas, AD inheritance, and the absence of palmar pits, jaw cysts, and other stigmata of basal cell nevus syndrome (BCNS). It appears to be caused by a SUFU germline mutation [JAMA Derm 2016;152;323].

Clinical

Patients typically present with multiple, symmetric, pearly papules scattered over the face. The most densely affected areas tend to be the nasolabial folds. Less frequently, the scalp, neck, chest, back, and extremities may be involved. Individual lesions may grow, ulcerate, and behave similarly to a more typical BCC.

Treatment

Genetic studies to document a SUFU mutation are important. The patient and family should be informed of the increased risk of medulloblastoma. In fact, childhood brain MRI surveillance has been suggested in children up to 3 years of age with SUFU mutation [J Clin Oncol 2014;32;4155] (most of these brain tumors develop by 2 years of age).

Fortunately, the skin lesions tend to be indolent. They may remain small for a long period of time or grow very slowly and show little tendency to ulcerate. Clinical judgment is necessary here, but certainly any tumor that behaves as a more typical BCC should be biopsied and treated if possible with MOHs surgery. Radiation therapy should be avoided as it risks increased BCC formation. Unfortunately, vismodegib seems not to work in patients with SUFU mutation [JAMA Derm 2016;152;323], presumably because the mutation is downstream in the sonic hedgehog pathway.

References

Case report of a woman in her 60's with multiple dome-shaped skin-colored papules on the face and vulva. The bumps first appeared around 50 years of age and gradually increased in size to approximately 60 lesions. Multiple biopsies showed infundibulocystic BCC. The patient's daughter had similar facial papules. The patient had had a meningioma. Vismodegib was given and after 9 months, no change in the tumors was seen. Lab studies found a germline SUFU mutation. JAMA Dermatol 2016;152;323

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