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A Rare Soft-Tissue Tumor in a 15-Year-Old Boy With Tuberous Sclerosis Complex: Answer.

ANSWER This is a folliculocystic and collagen hamartoma (FCCH), a rare benign collagen hamartoma strongly associated with tuberous sclerosis complex (TSC). Hamartomas in TSC with mutations in the TSC1 (encodes for hamartin) and TSC2 (tuberin) genes have high mTORC1 activity as a result of lack of inhibition by this TSC tumor suppressor complex. High mTORC1 activity stimulates proliferation of fibroblasts, keratinocytes, hair follicles, and sebaceous glands.1 However, for the development of hamartomas, a second somatic event is required, in addition to the germline TSC1/TSC2 mutation.2