title: SAPHO syndrome in an adolescent: a clinical case with unusual severe systemic impact.
abstract: SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome includes both dermatological and rheumatologic symptoms. Being a rare condition, the diagnosis is frequently late. The authors report a case of a 13-year-old boy diagnosed with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome with unusual severe systemic repercussions. The patient presented with acne conglobata, inability to walk due to pain and weakness and weight loss. Bone scintigraphy was suggestive of sacroiliitis, and lumbar spine x-ray showed signs of hyperostosis. His clinical state improved after treatment with nonsteroidal anti-inflammatory drugs, methotrexate, clindamycin, and isotretinoin. A review of the clinical aspects of this syndrome is presented, emphasizing how this underdiagnosed syndrome can lead to severe weight loss and significant functional and psychological impairment at an early age.
authors.affiliation: Adolescent Medicine Clinic, Department of Pediatrics, Hospital de Santa Maria, Lisbon, Portugal.
authors.forename: Sílvia
authors.initials: S
authors.lastname: Freira
authors.affiliation: Adolescent Medicine Clinic, Department of Pediatrics, Hospital de Santa Maria, Lisbon, Portugal; Rheumatology Research Unit, Molecular Medicine Institute, Faculty of Medicine, Lisbon University, Lisbon, Portugal. Electronic address: helenaregalofonseca@gmail.com.
authors.forename: Helena
authors.initials: H
authors.lastname: Fonseca
authors.affiliation: Adolescent Medicine Clinic, Department of Pediatrics, Hospital de Santa Maria, Lisbon, Portugal.
authors.forename: Pedro Dias
authors.initials: PD
authors.lastname: Ferreira
authors.affiliation: Department of Dermatology, Hospital de Santa Maria, Lisbon, Portugal.
authors.forename: Pedro
authors.initials: P
authors.lastname: Vasconcelos
authors.affiliation: Rheumatology Research Unit, Molecular Medicine Institute, Faculty of Medicine, Lisbon University, Lisbon, Portugal; Rheumatology Department, Hospital de Santa Maria, Lisbon, Portugal.
authors.forename: João Eurico
authors.initials: JE
authors.lastname: Fonseca
mesh_terms: D020083:Acquired Hyperostosis Syndrome / Q000175:diagnosis* / Q000188:drug therapy*; D000293:Adolescent; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000008:administration & dosage; D002981:Clindamycin / Q000008:administration & dosage; D057210:Delayed Diagnosis; D004359:Drug Therapy, Combination; D005500:Follow-Up Studies; D006801:Humans; D015474:Isotretinoin / Q000008:administration & dosage; D008297:Male; D008727:Methotrexate / Q000008:administration & dosage; D064847:Multimodal Imaging / Q000379:methods*; D049268:Positron-Emission Tomography / Q000379:methods; D035583:Rare Diseases; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D002981:Clindamycin; D015474:Isotretinoin; D008727:Methotrexate
keywords: Acne conglobata; Adolescent; Hyperostosis; Osteitis; SAPHO