{"entities":{"Q46643":{"pageid":37014,"ns":120,"title":"Item:Q46643","lastrevid":182990,"modified":"2026-08-13T15:22:25Z","type":"item","id":"Q46643","labels":{"mul":{"language":"mul","value":"LD27.00"},"pt-br":{"language":"pt-br","value":"Incontinentia pigmenti"},"en":{"language":"en","value":"Incontinentia pigmenti"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Incontinentia pigmenti \u00e9 um transtorno gen\u00e9tico dominante ligado ao X devido a anormalidades do gene NF-kappa-B (NEMO) no cromossomo Xq28. \u00c9 letal em fetos do sexo masculino, mas a presen\u00e7a de um segundo cromossomo X normal em fetos do sexo feminino resulta em um mosaicismo compat\u00edvel com a vida. Indiv\u00edduos do do sexo feminino afetados apresentam-se na inf\u00e2ncia com bolhas na pele em arranjos lineares (linhas de Blaschko), tipicamente em couro cabeludo e membros. Nos primeiros meses de vida, estas bolhas s\u00e3o sucedidas por altera\u00e7\u00f5es verrucosas e hiperpigmenta\u00e7\u00e3o. Isto tende a se resolver com o tempo, frequentemente deixando estrias atr\u00f3ficas. Caracter\u00edsticas associadas incluem denti\u00e7\u00e3o anormal, defeitos oculares e uma gama de complica\u00e7\u00f5es neurol\u00f3gicas."},"en":{"language":"en","value":"Incontinentia pigmenti is an X-linked dominant gene disorder due to abnormalities of the NF-kappa-B (NEMO) gene on chromosome Xq28. It is lethal in male fetuses but the presence of a normal second X chromosome in females results in a mosaicism which is compatible with life. Affected females present in infancy with skin blisters in linear arrays (Blaschko lines) typically on the scalp and limbs. Within the first few months of life these are succeeded by warty changes and hyperpigmentation. These tend to resolve over time, often leaving atrophic streaks. Associated features include abnormal dentition, ocular defects and a variety of neurological complications."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"27e51abd117215088e87732f03fe17800eaf8ebd","datavalue":{"value":"https://id.who.int/icd/entity/1542530268","type":"string"},"datatype":"url"},"type":"statement","id":"Q46643$1D4913B3-397E-46DD-AC3A-D38AAB13B5AA","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"ac0ab97bd9a2c4af8b1cacca3d3608bd5de8ece1","datavalue":{"value":"CID11:LD27.00","type":"string"},"datatype":"string"},"type":"statement","id":"Q46643$46753A8B-A01D-4052-96DE-E1363699FDDD","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"f9faed78dd36446b748001c2eed016be162a4986","datavalue":{"value":"dki-india-LD27.00","type":"string"},"datatype":"string"},"type":"statement","id":"Q46643$A9E4D4C9-F2A4-46C8-80D8-51B7E55A6877","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q46643$7FB8315B-B050-480B-879A-C2D2DE0ADF50","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":"Q46643$9D6F6D7D-AA4B-42D2-BA18-9F0F4D0D4534","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q46643$AE8B532D-A692-479A-B67F-55FBB45BC503","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"0ef1d4735935f60ea3c05916bab9994f4e943f10","datavalue":{"value":{"entity-type":"item","numeric-id":823,"id":"Q823"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q46643$96B00EFB-175B-4A13-90D3-5B970D771FBF","rank":"normal"}]},"sitelinks":{}}}}