CORRECT DIAGNOSIS:
Gorlin Syndrome
DISCUSSION:
Our patient presented with Basal Cell Carcinoma (BCC) on the left arm and plantar pits, which constitute 2 major criteria for Gorlin Syndrome. He also presented frontal bossing, polydactyly, and cleft lip which constituted 3 minor criteria. Genetic testing (PATCH1) further confirmed our diagnosis. Based on clinical findings, histological analysis, and genetic testing we concluded that our patient presented with Gorlin syndrome.
About 1-4% of the infant population affected by Gorlin syndrome develop medulloblastoma. Experts recommend performing a brain MRI when patients present with abnormal neurologic findings or changes in head circumference. In the case of our patient, frontal bossing and craniomegaly were noted, warranting such radiographic study. Surveillance for medulloblastoma is recommended every 4 months until age 3 and every 6 months until age 5. Dermatologic screening is recommended annually until first BCC manifests, then every 6 months or sooner if needed.
TREATMENT:
Management of this condition involves a multidisciplinary approach. It requires continuous screening, prevention, and treatment of clinical manifestations. Prevention is done by wearing protective clothing in order to minimize UV light radiation exposure, regular use of sunscreen ointment, and avoiding excessive exposure to X-rays and tanning beds.
Treatment options for BCC in pediatric cases include topical 5-FU, imiquimod, and surgical excision. In adult cases, surgical excision, and/or the use of Vismodegib, a sonic Hedgehog inhibitor may be used. Vismodegib was approved in 2012 by the Food and Drug Administration (FDA) for aggressive BCC. It is currently indicated for patients with locally-advanced and metastatic BCC. Surgical excision with Mohs micrographic surgery is effective for early lesions and can be supplemented with cryotherapy and laser treatment. Radiotherapy is a feasible option when lesions are recurrent, or surgery is contraindicated. Referral to dentistry or oral surgery starting at age 8 is recommended every 12-18 months for jaw keratocyst screening, although prolonged X-ray exposure with the use of panoramic dental radiograph (Orthopantogram) should be limited due to increased formation of neoplasm.
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