title: Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin.
abstract: Ataxia-Telangiectasia is a rare multisystem autosomal recessive disorder [OMIM 208900], caused by mutations in Ataxia-Telangiectasia Mutated gene. It is characterized by neurological, immunological and cutaneous involvement. Granulomas have been previously reported in Ataxia-Telangiectasia patients, even if acne rosacea has not been described.We report a case of a young Ataxia-Telangiectasia patient with a severe immunological and neurological involvement, who developed granulomatous skin lesions diagnosed by skin biopsy as acne rosacea. Considering the severe clinical picture and the lack of improvement to multiple topic and systemic therapies, treatment with Isotretinoin was started and the skin lesions disappeared after five months. However the therapy was stopped due to drug-hepatotoxicity.Systemic treatment with Isotretinoin should be carefully considered in patient with Ataxia-Telangiectasia for the treatment of multi-drug resistant acne rosacea, however its toxicity may limit long-term use and the risk/benefit ratio of the treatment should be evaluated.
authors.affiliation: Department of Systems Medicine, University of Rome "Tor Vergata", Unit of Immunology and Infectious Disease, "Bambino Gesù" Childrens Hospital, Via Montpellier 1, 00133, Rome, Italy. nicolcant@hotmail.it.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Cantarutti
authors.affiliation: Department of Systems Medicine, University of Rome "Tor Vergata", Unit of Immunology and Infectious Disease, "Bambino Gesù" Childrens Hospital, Via Montpellier 1, 00133, Rome, Italy. alessia.claps@hotmail.it.
authors.forename: Alessia
authors.initials: A
authors.lastname: Claps
authors.affiliation: Department of Systems Medicine, University of Rome "Tor Vergata", Unit of Immunology and Infectious Disease, "Bambino Gesù" Childrens Hospital, Via Montpellier 1, 00133, Rome, Italy. giulia.angelino@gmail.com.
authors.forename: Giulia
authors.initials: G
authors.lastname: Angelino
authors.affiliation: Department of Clinical Molecular Medicine, University "La Sapienza", Rome, Italy. luciana.chessa@uniroma1.it.
authors.forename: Luciana
authors.initials: L
authors.lastname: Chessa
authors.affiliation: Department of Pathology, Bambino Gesù Children Hospital, IRCCS, Rome, Italy. francesco.callea@opbg.net.
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
authors.affiliation: Department of Pediatrics, Unit of Dermatology, Bambino Gesù Children Hospital, IRCCS, Rome, Italy. may.elhachem@opbg.net.
authors.forename: May
authors.initials: M
authors.lastname: El Hachem
authors.affiliation: Department of Pediatrics, Unit of Dermatology, Bambino Gesù Children Hospital, IRCCS, Rome, Italy. andrea.diociaiuti@opbg.net.
authors.forename: Andrea
authors.initials: A
authors.lastname: Diociaiuti
authors.affiliation: Department of Systems Medicine, University of Rome "Tor Vergata", Unit of Immunology and Infectious Disease, "Bambino Gesù" Childrens Hospital, Via Montpellier 1, 00133, Rome, Italy. andrea.finocchi@uniroma2.it.
authors.forename: Andrea
authors.initials: A
authors.lastname: Finocchi
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000097:blood / Q000150:complications*; D003879:Dermatologic Agents / Q000627:therapeutic use*; D018432:Drug Resistance, Multiple; D005260:Female; D006801:Humans; D015474:Isotretinoin / Q000627:therapeutic use*; D008099:Liver / Q000187:drug effects; D012393:Rosacea / Q000097:blood / Q000188:drug therapy* / Q000209:etiology* / Q000473:pathology; D012867:Skin / Q000473:pathology
chemical_list: D003879:Dermatologic Agents; D015474:Isotretinoin