{"orpha":294023,"name":"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294023/","orphanet_url":"https://www.orpha.net/en/disease/detail/294023","names":{"fr":{"name":"Syndrome d'érythrodermie néonatale-auto-inflammation-maladie inflammatoire de l'intestin","definition":"Syndrome auto-inflammatoire avec déficit immunitaire rare et potentiellement létal caractérisé par une inflammation précoce de la peau et des intestins persistant tout au long de la vie, associée à des infections récurrentes. Les patients présentent un érythème psoriasiforme péribuccal et périanal et une éruption papuleuse avec pustules, un retard de croissance staturo-pondérale associés à une diarrhée chronique due à la malabsorption, des infections gastro-intestinales intercurrentes et des troubles de l'alimentation, des cheveux courts ou cassants, voire une absence de cheveux, ainsi qu'une trichomégalie. La récurrence d'infections cutanées et pulmonaires est à l'origine d'une récurrence de blépharites, d'otites externes et de bronchiolites."},"de":{"name":"Neonatale Erythrodermie-Autoinflammation-entzündliche Darmerkrankung-Syndrom"},"es":{"name":"Síndrome neonatal de eritrodermia-autoinflamación-enfermedad inflamatoria intestinal","definition":"La enfermedad inflamatoria neonatal intestinal y cutánea es un síndrome autoinflamatorio poco frecuente, potencialmente mortal, con un trastorno de inmunodeficiencia caracterizado por un inicio temprano de inflamación de por vida, que afecta a la piel y al intestino asociado a infecciones recurrentes. Los afectados presentan eritema psoriasiforme perioral y perianal y erupción papular con pústulas, fallo de medro asociado a diarrea malabsortiva crónica, infecciones gastrointestinales intercurrentes y problemas de alimentación, así como pelo muy corto, ausente o roto y tricomegalia. Las infecciones recurrentes cutáneas y pulmonares conducen a blefaritis recurrente, otitis externa y bronquiolitis."},"it":{"name":"Sindrome eritroderma neonatale-autoinfiammazione-malattia infiammatoria dell’intestino","definition":"La malattia infiammatoria cutanea e intestinale neonatale è una malattia autoinfiammatoria rara, potenzialmente letale, associata ad immunodeficienza. È caratterizzata da un'infiammazione della cute e dell'intestino ad esordio precoce che dura tutta la vita, associata ad infezioni ricorrenti. I pazienti presentano eritemi periorali e perianali ed eruzioni papulari con pustole, ritardo della crescita associato a diarrea cronica con malassorbimento, infezioni gastrointestinali intercorrenti, problemi di alimentazione, capelli assenti, corti o spezzati e tricomegalia. Le infezioni cutanee e polmonari ricorrenti causano blefariti, otiti esterne e bronchioliti ricorrenti."},"nl":{"name":"Neonataal erytrodermie - auto-inflammatie - inflammatoire darmziekte-syndroom","definition":"Neonatale inflammatoire huid- en darmziekte is een zeldzaam, levensbedreigend, auto-inflammatoir syndroom met immuundeficiëntie, en wordt gekarakteriseerd door vroege aanvang van levenslange inflammatie die de huid en de darm treft, geassocieerd met recurrente infecties. Patiënten vertonen perioraal en perianaal psoriasiform erytheem en papulaire eruptie met pustels, groeiachterstand geassocieerd met chronische malabsorptieve diarree, intercurrente gastro-intestinale infecties en voedingsproblemen, alsook afwezig, kort of beschadigd haar en trichomegalie. Recurrente cutane en pulmonale infecties leiden tot recurrente blefaritis, otitis externa en bronchiolitis."},"pt":{"name":"Doença inflamatória do intestino e da pele neonatal"},"pl":{"name":"Zespół erytrodermii noworodkowej, autozapalenia i choroby zapalnej jelit"},"cs":{"name":"Neonatální zánětlivé onemocnění kůže a střev"},"uk":{"name":"Неонатальні запальні захворювання шкіри та кишечника","definition":"Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis."},"zh":{"name":"新生儿炎症性皮肤和肠病","definition":"新生儿炎症性皮肤与肠病是一种罕见的、危及生命的、伴免疫缺陷的自身炎症综合征，其特点是早发性终生炎症，累及皮肤和肠道，并伴反复感染。患者表现为口周和肛周银屑病样红斑和丘疹伴脓疱，生长发育不良伴慢性吸收不良性腹泻，并发胃肠道感染和喂养问题，以及头发短小或断发和睫毛粗长症。复发性皮肤和肺部感染导致复发性睑缘炎、外耳炎和毛细支气管炎。"},"tr":{"name":"Yenidoğan iltihaplı deri ve bağırsak hastalığı"}},"xrefs":[{"source":"OMIM","code":"614328","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A6Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017411","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]},{"orpha":324927,"name":"Pyogenic autoinflammatory syndrome","classifications":[196]},{"orpha":324942,"name":"Pyogenic autoinflammatory syndrome of childhood","classifications":[231]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ADAM17","name":"ADAM metallopeptidase domain 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22010916[PMID]","hgnc":"195","ensembl":"ENSG00000151694","omim":"603639","loci":["2p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22010916[PMID]_24691054[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22010916[PMID]_24691054[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-23","source":"22010916[PMID]","terms":[{"hpo":"HP:0012390","label":"Anal fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025085","label":"Bloody diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040181","label":"Chapped lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008396","label":"Chronic monilial nail infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011228","label":"Horizontal eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001805","label":"Onychogryphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410017","label":"Otitis externa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011131","label":"Perianal rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031123","label":"Recurrent gastroenteritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100038","label":"Slow-growing scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null}]}}