title: Chronic granulomatous disease: a case study of a symptomatic carrier.
abstract: An adolescent aged fifteen, with no family history of interest, presented the following cutaneous lesions from the age of two onwards: photosensitive dermatitis in the form of erythematous plaques on the face, purplish erythematous papules on fingers, scaly inflammatory plaques in the nostrils histologically compatible with discoid lupus, and frequent skin infections in the form of folliculitis, furuncles and abscesses (with positive cultures for Staphylococcus aureus) evolving slowly into cold sores in various sites. Slow, partial improvement occurred after treatment with topical corticoids and topical and oral antibiotics. Of the complementary explorations performed, general analysis, immunity and autoimmunity examinations were either negative or normal. The only notable result was the patient's inability to reduce nitroblue tetrazolium (activity 0%). The patient was diagnosed as a carrier of chronic granulomatous disease and treatment based on antibiotic prophylaxis with cotrimoxazole was initiated; skin infections were treated with antiseptic soaps. Subsequent evolution has been favourable, with the gradual resolution and granulation of old lesions and without cutaneous relapses.
authors.affiliation: Pediatric Immunoallergy Service, Hospital Clínic/Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: G
authors.initials: G
authors.lastname: Romera Modamio
authors.forename: M A
authors.initials: MA
authors.lastname: Martín Mateos
authors.forename: M A
authors.initials: MA
authors.lastname: González Enseñat
authors.forename: M A
authors.initials: MA
authors.lastname: Pastor Gómez
mesh_terms: D000293:Adolescent; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D012867:Skin / Q000473:pathology