Topical sirolimus for the treatment of angiofibromas in a child with tuberous sclerosis complex: First reported case in the Philippines

ABSTRACT

@#<p style="text-align justify;"><strong>INTRODUCTION:</strong> Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder causing a mutation in the tumor suppressor genes, TSC1 or TSC2. Loss of function of these genes leads to dysfunction of hamartin and tuberin, resulting in hamartoma formation. It usually manifests with cutaneous manifestations at childhood. However, it also affects other organ systems. Based on the Philippine Dermatological Society Health Information System census, there have been 104 cases of TSC from 2011-2018. Currently, limited data is available regarding the treatment options in the local setting.</p><p style="text-align justify;"><strong>CASE REPORT</strong> The case involves a 4 year-old boy, with a two year history of flesh-colored to dusky red fi rm papules on the centrofacial areas and neck. Lesions have been increasing in number since first appearance. He had a normal birth history. Family history was insignificant. However, delay in expressive speech development was noted. Physical examination revealed multiple well-defined angiofibromas on centrofacial areas and neck; fibrous cephalic plaque on the left temporal area, and several ash-leaf spots on the trunk. Periungual and subungual fibromas, confetti macules, shagreen patch and dental pits were absent. Based on the clinical manifestations, he was diagnosed with TSC. Histopathology of a papule on the chin was consistent with angiofibroma. Parents were concerned with the appearance of the lesions and preferred conservative management. Hence, topical sirolimus 0.2% ointment was applied once daily on the angiofibromas for 4 months. Monthly follow-up showed marked improvement, manifested by the decrease in number and by flattening of the lesions.</p><p style="text-align justify;"><strong>CONCLUSION:</strong> To the best of our knowledge, this is the fi rst case report of successful treatment of topical sirolimus for TSC in the Philippines.</p><p style="text-align justify;"><strong>KEYWORDS</strong> tuberous sclerosis complex, topical, treatment success, conservative management, hematoma</p>