{"entities":{"Q101666":{"pageid":92059,"ns":120,"title":"Item:Q101666","lastrevid":581953,"modified":"2026-08-16T18:30:27Z","type":"item","id":"Q101666","labels":{"mul":{"language":"mul","value":"ID_1585528459"},"pt-br":{"language":"pt-br","value":"Poiquilodermia esclerosante heredit\u00e1ria com envolvimento tendinoso e pulmonar"},"en":{"language":"en","value":"Hereditary sclerosing poikiloderma with tendon and pulmonary involvement"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Nesta condi\u00e7\u00e3o, relatada na \u00c1frica do Sul, a poiquilodermia esclerosante heredit\u00e1ria est\u00e1 associada a doen\u00e7a pulmonar que \u00e9 potencialmente letal na idade adulta. As manifesta\u00e7\u00f5es cut\u00e2neas que facilitam o diagn\u00f3stico incluem telangiectasias faciais, hipo e hiperpigmenta\u00e7\u00e3o mosqueada, p\u00e1pulas e atrofia epid\u00e9rmica. Os cabelos, os pelos faciais e corporais s\u00e3o finos e escassos. As contraturas tendinosas levam a deformidades progressivas em flex\u00e3o digital e a anormalidades dos tornozelos e p\u00e9s, com dist\u00farbio da marcha. O envolvimento pulmonar manifesta-se como dispneia progressiva. Os dados de linhagem s\u00e3o compat\u00edveis com um modo de transmiss\u00e3o autoss\u00f4mico dominante (PMID: 17034542)."},"en":{"language":"en","value":"In this condition, reported from South Africa, hereditary sclerosing poikiloderma is associated with pulmonary disease which is potentially lethal in adulthood. Skin manifestations which facilitate diagnosis include facial telangiectasia, mottled hypo- and hyperpigmentation, papules and epidermal atrophy. The scalp, facial and body hair are fine and scanty. The tendon contractures lead to progressive digital flexion deformities and abnormalities of the ankles and feet, with disturbance of gait. Pulmonary involvement manifests as progressive dyspnoea. Pedigree data are compatible with an autosomal dominant mode of transmission (PMID: 17034542)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"dd5c1a585f0130b2d868439d54f22842311a5a14","datavalue":{"value":"https://id.who.int/icd/entity/1585528459","type":"string"},"datatype":"url"},"type":"statement","id":"Q101666$CA764BE0-40BD-429B-A562-3979456F5AE9","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"4f7211c24bda1fe107f8c70c5bc05d20e5df73ef","datavalue":{"value":"CID11:ID_1585528459","type":"string"},"datatype":"string"},"type":"statement","id":"Q101666$FF214512-BE4B-4D95-B854-F72E0B935AC6","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"2f4a93bdf5933939fdad380e5bcb6e7a86502cad","datavalue":{"value":"dki-india-ID_1585528459","type":"string"},"datatype":"string"},"type":"statement","id":"Q101666$5E74D586-D426-4061-832F-E3D83F203310","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q101666$ADE56EE0-5F01-4550-A756-34C999FE71B0","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q101666$589A4BAB-66BB-4086-979B-8949F7C52A5A","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q101666$0FAB4196-5DDE-48A4-ADB8-F5C8FECD14C6","rank":"normal"}]},"sitelinks":{}}}}