Uncommon skin lesion in a patient with ataxia-telangiectasia

A 20‐year‐old African‐American man, with a history of ataxia‐telangiectasia diagnosed at the age of one year, presented to the hospital with fever, cough, and headache of 2 days’ duration. The fever was of high grade, associated with chills and rigors. The headache was frontal in location, constant, pounding in nature, and associated with photophobia and phonophobia; there was no neck pain, no neck stiffness, and no blurring of vision. The patient complained of facial pain. There were no relieving or aggravating factors. The family denied any change in mental status. The cough was productive of yellowish sputum. There was associated rhinorrhea. The patient complained of nausea and vomiting with the headache. A review of other systems was negative. On presentation in the emergency room, the patient was tachypneic, febrile, and tachycardic. He was oriented to time, place, and person. His neck was supple and meningeal signs were negative. He had maxillary sinus tenderness. Neurologic examination revealed nystagmus, ocular telangiectasia ( Fig. 1 ), ataxia, and globally decreased muscle strength. Skin examination showed hypopigmented areas on all four extremities, the face, and neck ( Figs 1–4 ), without involvement of the trunk. The rest of the physical examination was unremarkable.

Figure 1 Open in figure viewer PowerPoint Area of vitiligo on the neck with premature graying of the hair