Article
ROSAH syndrome lacking splenomegaly and complete anhidrosis.
BMJ case reports - 5 Feb 2026
Dutra Luiza De Gregori, Stangherlin Gisandra de Fátima, Chiarini Heloísa, Haubenthal Natalia Alini, Vargas Maria Luiza, Huryn Laryssa, Zein Wadih M, Harada Kelly de Oliveira, Brum Liliani Mathias, Kozycki Christina Torres
Abstract excerpt
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 ALPK1 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...
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