{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:07:49Z","timestamp":1790190469415,"version":"4.1.0"},"reference-count":8,"publisher":"BMJ","issue":"2","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,1,26]]},"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:p>\n                    ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome is a rare multisystem autoinflammatory disorder caused by heterozygous gain-of-function mutations in\n                    <jats:italic>ALPK1<\/jats:italic>\n                    . Initially characterised by these features, its clinical spectrum extends beyond the acronym. We report the first genetically confirmed case in Latin America. The proband, in her mid-20s, presented with progressive retinal dystrophy leading to vision loss, xerostomia, short dental roots, recurrent low-grade fevers and elevated C-reactive protein. Notably, she lacked splenomegaly and anhidrosis; instead, mild hypohidrosis was identified retrospectively following genetic confirmation of the\n                    <jats:italic>ALPK1<\/jats:italic>\n                    p.Thr237Met variant. Her mother, carrying the same variant, exhibited blindness from advanced retinal degeneration, severe arthritis, recurrent fevers, hypohidrosis and inability to lactate. This family illustrates the variable expressivity of ROSAH syndrome and underscores that absence of classic features should not exclude the diagnosis. Early recognition and genetic testing are essential, as timely initiation of immunomodulatory therapy may mitigate the risk of loss of vision.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-270922","type":"journal-article","created":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T13:56:00Z","timestamp":1770299760000},"page":"e270922","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["ROSAH syndrome lacking splenomegaly and complete anhidrosis"],"prefix":"10.1136","volume":"19","clinical-trial-number":[{"clinical-trial-number":"nct02077894","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct00001373","registry":"10.18810\/clinical-trials-gov"}],"author":[{"given":"Luiza De Gregori","family":"Dutra","sequence":"first","affiliation":[{"name":"School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisandra de F\u00e1tima","family":"Stangherlin","sequence":"additional","affiliation":[{"name":"School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helo\u00edsa","family":"Chiarini","sequence":"additional","affiliation":[{"name":"School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia Alini","family":"Haubenthal","sequence":"additional","affiliation":[{"name":"School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6678-4848","authenticated-orcid":false,"given":"Maria Luiza","family":"Vargas","sequence":"additional","affiliation":[{"name":"School of Medicine, State University of Londrina, Londrina, Parana, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laryssa","family":"Huryn","sequence":"additional","affiliation":[{"name":"National Eye Institute, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wadih M","family":"Zein","sequence":"additional","affiliation":[{"name":"National Eye Institute, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly de Oliveira","family":"Harada","sequence":"additional","affiliation":[{"name":"School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliani Mathias","family":"Brum","sequence":"additional","affiliation":[{"name":"School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5405-4694","authenticated-orcid":false,"given":"Christina Torres","family":"Kozycki","sequence":"additional","affiliation":[{"name":"Innate Immune Activation Unit, National Institute of Allergy and Infectious Diseases Laboratory of Clinical Immunology and Microbiology, Bethesda, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,2,5]]},"reference":[{"key":"2026020505555265000_19.2.e270922.1","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1136\/annrheumdis-2022-222629","article-title":"Gain-of-function mutations in ALPK1 cause an NF-\u03baB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome","volume":"81","author":"Kozycki","year":"2022","journal-title":"Ann Rheum Dis"},{"key":"2026020505555265000_19.2.e270922.2","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1038\/s41436-019-0476-3","article-title":"ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder","volume":"21","author":"Williams","year":"2019","journal-title":"Genet Med"},{"key":"2026020505555265000_19.2.e270922.3","doi-asserted-by":"crossref","DOI":"10.1016\/S2665-9913(22)00360-5","article-title":"ROSAH syndrome: childhood-onset arthritis, hand deformities, uveitis, and splenomegaly","volume":"5","author":"Lequain","year":"2023","journal-title":"Lancet Rheumatol"},{"key":"2026020505555265000_19.2.e270922.4","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.240260","article-title":"Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome","volume":"14","author":"Snelling","year":"2024","journal-title":"Open Biol"},{"key":"2026020505555265000_19.2.e270922.5","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.ophtha.2022.10.026","article-title":"Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF \u03baB-Mediated Autoinflammatory Disease with Retinal Dystrophy","volume":"130","author":"Huryn","year":"2023","journal-title":"Ophthalmology"},{"key":"2026020505555265000_19.2.e270922.6","first-page":"659","article-title":"Retreatment of a Class II Patient with Short-Root Anomaly","volume":"49","author":"Farret","year":"2015","journal-title":"J Clin Orthod"},{"key":"2026020505555265000_19.2.e270922.7","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1007\/s10875-020-00741-6","article-title":"Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1","volume":"40","author":"Zhong","year":"2020","journal-title":"J Clin Immunol"},{"key":"2026020505555265000_19.2.e270922.8","unstructured":"Kozycki C , Kastner D , Huryn L , et al . ALPK1-related autoinflammatory disease. In: Adam MP , Bick S , Mirzaa GM , eds. GeneReviews. 2024."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-270922","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T13:56:04Z","timestamp":1770299764000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-270922"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,2,5]]},"published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1136\/bcr-2025-270922"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-270922","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2]]}}}