Facial Angiofibromas Associated with Tuberous Sclerosis

Abstract

A 29-year-old woman presented with a long-standing history of yellow-orange papules on her nose and cheeks, skin-colored papules at the proximal nail fold of several toes, and a skin-colored plaque on her back. These findings were diagnosed as facial angiofibromas, periungual fibromas, and a shagreen patch, respectively. They are characteristic of tuberous sclerosis, an autosomal dominant disorder in which mutations in tumor suppressor gene TSC1 or TSC2 result in the formation of benign hamartomas throughout the body. Previous computed tomography of the brain had shown such hamartomas in the patient. Almost all patients with this condition have at least one characteristic dermatologic feature. Central nervous system manifestations are a common source of morbidity, including infantile spasms, seizures, intellectual disability, and giant-cell astrocytomas. Many other organ systems may be involved. Proper identification of the dermatologic features of tuberous sclerosis may aid in the diagnosis of the condition and ultimately help to initiate appropriate screening examinations and genetic counseling.

Rapamycin Inhibits Proliferation of Hemangioma Endothelial Cells by Reducing HIF-1-Dependent Expression of VEGF

“…Given the serious adverse effects of rapamycin-based drugs when administered systemically to adult and pediatric patients [18], [19], systemic treatments with rapamycin for even large hemangiomas is not advisable. However, recent efforts to develop and clinically test topical rapamycin-based therapy for cutaneous facial angiofibromas [20], the benign tumors seen in patients with tuberous sclerosis [21], may provide a basis for considering topical cutaneous rapamycin treatment also for infantile hemangiomas. The outcome of randomized double blind Phase I clinical trials for patients with tuberous sclerosis [20] will provide a useful guide for further efforts along this line.…”

A rare form of discoid lupus erythematosus as a rosacea and angiofibroma: A case report

“…6 Dome-shaped papules on the skin from forehead to the bridge of the nose and cheeks are a usual manifestation of angiofibroma that is mostly found in tuberous sclerosis. 7 Dessinioti et al presented that a red face is not always equal to rosacea. 6 In confirmation of their study, we presented a patient with cutaneous presentations mimicking rosacea and angiofibroma due to the lesions limited to the center of the face and eventual diagnosis of DLE.…”

“…Dome‐shaped papules on the skin from forehead to the bridge of the nose and cheeks are a usual manifestation of angiofibroma that is mostly found in tuberous sclerosis …”

Rhinophyma in tuberous sclerosis complex: case report with brief review of literature

“…This case report describes the successful reduction of a rhinophyma in a patient affected by TSC. Disfigurement of the nose due to proliferation of angiofibroma in TSC patients was repeatedly reported [ 11 ], [ 13 ], [ 16 ], [ 30 ]. However, following the case report of Bernstein in 1978 [ 2 ] this is likely to be the second description of a rhinophyma in conjunction with an angiofibroma (adenoma sebaceum).…”