A 28-Year-Old Male Patient with Nail Tumors, Skin Lesions, and Epilepsy

نویسندگان

  • Deepak M.W. Balak
  • Bernard A. Zonnenberg
  • Juliette M.J. Spitzer-Naaijkens
  • Mieke M. Hulshof
چکیده

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.

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عنوان ژورنال:

دوره 9  شماره 

صفحات  -

تاریخ انتشار 2017