Adult-onset tuberous sclerosis complex with florid Koenen’s tumors, facial angiofibromas, and asymptomatic cortical tubers

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of hamartomatous tumors in multiple organs, including the skin. Most patients present early in life with seizures, intellectual disability, and cutaneous angiofibromas. However, patients may often not present these features until late adulthood. A 55-year-old female presented with complaints of sudden and florid appearance of multiple fibrokeratomas around all twenty of her nails, along with multiple hyperpigmented papules on her face. On examination, she also had gingival fibromas and a single skin-colored plaque on her lower back. Histopathology of lesions over the face, back, and fingernails were compatible with the diagnoses of angiofibroma, shagreen patch, and fibrokeratoma, respectively. She was advised laser ablation of the facial lesions and excision of the nail fibrokeratomas. MRI of the brain showed multiple cortical tubers and subependymal nodules. Late presentation of TSC during adulthood may delay the diagnosis and prevent the screening of early tumor formation, potentially increasing morbidity. This was exemplified in our clinical case, where asymptomatic cortical tubers were discovered on MRI only after the appearance of skin lesions and fibrokeratomas around the nails.