A Patient with ACHOO – The Autosomal Dominant Compelling Helio-Ophthalmic Outburst syndrome

Abstract

Case report: The patient is a 36-year-old woman who was referred to our allergy-immunology clinic by her primary care physician to be assessed for a possible allergic disorder. The patient states that since early teenage she has had frequent bouts of sneezing generally preceded by nasal itching and often occurring when she first goes outdoors. She denies having a chronic cough or wheezing and has no symptoms suggestive of allergic conjunctivitis or sinusitis. She has not had urticaria or anaphylactoid reactions. Her mother and 29-year-old sister have similar complaints but have never been assessed for possible allergies. The patient’s medical history is otherwise unremarkable. On physical examination her vital signs were within normal limits. Her conjunctivae were not inflamed or edematous and she had no edema or pallor of her nasal mucosa and no tenderness of her paranasal sinuses. Her lungs were clear to auscultation and free of wheezes on deep breathing. The remainder of her exam was unremarkable. Laboratory assessment revealed a normal complete blood count and metabolic panel. Skin testing to 66 regional allergens was negative, and her serum IgG, IgA, IgM, IgD, and IgE levels were within normal limits. Because she was suspected as having ACHOO, she was dark adapted and then exposed to a bright light which instantaneously precipitated her nasal itching and sneezing, confirming the diagnosis.