A 28-Year-Old Male Patient with Nail Tumors, Skin Lesions, and Epilepsy
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of benign hamartomas in multiple organs. Most patients with TSC exhibit cutaneous manifestations. Methods: We report a 28-year-old patient with multiple pink papules at the proximal nail fold of several toes. Results: Histopathological analysis of a biopsy of a papule was consistent with an ungual fibroma. Histopathological analysis of a biopsy of an elevated skin-colored plaque at the lower back was diagnostic for a Shagreen patch. These findings were consistent with a clinical diagnosis of TSC. This patient was subsequently referred to a multidisciplinary TSC clinic for further screening, which revealed a giant cell astrocytoma and multiple subependymal tubers. Annual monitoring was recommended. The skin lesions were treated with topical rapamycin ointment. Conclusions: Recognizing dermatological manifestations of TSC is of importance to allow early diagnosis. TSC should be considered as a differential diagnosis in the case of ungual fibromas, even in older patients.
|Keywords||Angiofibromas, Shagreen patch, Topical rapamycin, Tuberous sclerosis complex, Ungual fibroma|
|Persistent URL||dx.doi.org/10.1159/000455037, hdl.handle.net/1765/99587|
|Journal||Case Reports in Dermatology|
Balak, D.M.W, Zonnenberg, B.A. (Bernard A.), Spitzer-Naaijkens, J.M.J. (Juliette M.J.), & Hulshof, M.M. (Mieke M.). (2017). A 28-Year-Old Male Patient with Nail Tumors, Skin Lesions, and Epilepsy. Case Reports in Dermatology, 9(1), 12–19. doi:10.1159/000455037