Extensive and exuberant angiofibromas producing breathing difficulty in a patient with tuberous sclerosis complex

A 22-year-old woman was referred from the department of oto-rhino-laryngology for face lesions impinging into the nostrils and producing difficulty in breathing. The lesions manifested in childhood, at the age of 3 years and increased in number and size over the course of time. She also gave a history of seizures from the age of 5 years, for which she was receiving phenytoin.

Clinical examination showed multiple, discrete, and confluent erythematous and skin colored papules on cheeks, nasiolabial folds, and nose. The papules were seen extending into the nostrils [Figure 1]. There were similar, discrete papules on the forehead, eyelids, and chin. The patient had single hypopigmented macule on the trunk suggestive of ash leaf macule. There was no shagreen patch or Koenen’s tumor. Magnetic resonance imaging of brain showed subependymal nodules. Chest radiography and ultrasonogram of abdomen were normal. There were no bony abnormalities.

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Figure 1:

Extensive, exuberant, multiple, discrete, and confluent angiofibromas on the face and nose.

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Skin biopsy of a papule on the face showed multiple vascular spaces with intervening fibroblasts and scanty infiltrate in the dermis diagnostic of angiofibromas. A definite diagnosis of tuberous sclerosis complex was made as she satisfied two major criteria (facial angiofibromas and subependymal nodules). We referred the patient to the plastic surgeon.

We did not come across any previous report of extensive and exuberant angiofibromas interfering with breathing.