{"orpha":679,"name":"Malignant atrophic papulosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cutaneo-muco-intestinal syndrome","MAP","Papulosis atrophicans maligna"],"definition":"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-679/","orphanet_url":"https://www.orpha.net/en/disease/detail/679","names":{"fr":{"name":"Papulose atrophiante maligne","synonyms":["Papulosis atrophicans maligna","Syndrome cutanéo-muco-intestinal"],"definition":"La papulose atrophiante maligne est une vasculopathie thrombo-oblitérative chronique rare caractérisée par des lésions cutanées papuleuses avec une atrophie centrale blanc-porcelaine et un anneau télangiectasique. Les lésions systémiques peuvent intéresser le tractus gastro-intestinal et le système nerveux central (SNC) et sont potentiellement fatales."},"de":{"name":"Papulose, atrophische maligne","synonyms":["Köhlmeier-Degos-Krankheit","MAP","Papulosis maligna atrophicans"],"definition":"Die Atrophische maligne Papulose (MAP) ist eine seltene, chronische, thrombo-obliterative Vaskulopathie, die durch papulöse Hautläsionen mit zentraler porzellanweißer Atrophie und einem umgebenden teleangiektatischen Rand gekennzeichnet ist. Systemische Läsionen können den Magen-Darm-Trakt und das zentrale Nervensystem (ZNS) befallen und sind potenziell letal."},"es":{"name":"Papulosis atrófica maligna","synonyms":["Síndrome cutaneo-mucointestinal"],"definition":"La papulosis atrófica maligna (PAM) es una vasculopatía trombo-obliterante crónica poco frecuente caracterizada por lesiones cutáneas papulosas con atrofia central de color blanco porcelana y un borde circundante telangiectásico. Las lesiones sistémicas pueden afectar al tracto gastrointestinal y al sistema nervioso central (SNC) y son potencialmente mortales."},"it":{"name":"Papulosi atrofica maligna","synonyms":["MAP","Papulosis atrophicans maligna","Sindrome cutaneo-muco-intestinale","Sindrome di Köhlmeier-Degos-Delort-Tricort"],"definition":"La papulosi atrofica maligna (MAP) è una vasculopatia trombo-obliterante cronica rara, caratterizzata da lesioni cutanee papulose con atrofia centrale color bianco-porcellana e un bordo circostante telangectasico. Le lesioni sistemiche possono interessare il tratto gastrointestinale e il sistema nervoso centrale (SNC) e sono potenzialmente letali."},"nl":{"name":"Maligne atrofische papulose","synonyms":["Cutaneo-muco-intestinaal syndroom","MAP","Papulosis atrophicans maligna"],"definition":"Maligne atrofische papulose (MAP) is een zeldzame, chronische, trombo-obliteratieve vasculopathie die wordt gekarakteriseerd door papulaire huidletsels met centrale porseleinwitte atrofie en een teleangiëctatische rand. Systemische letsels kunnen het maag-darmstelsel en het centrale zenuwstelsel (CZS) treffen, en kunnen mogelijk fataal zijn."},"pt":{"name":"Papulose atrófica maligna","synonyms":["MAP","Papulose atroficans maligna","Síndrome cutâneo-muco-intestinal"]},"pl":{"name":"Grudkowatość złośliwa zanikowa","synonyms":["Choroba Degosa","Choroba Köhlmeiera i Degosa","Grudkowatość złośliwa zanikowa","Zespół Köhlmeiera, Degosa, Delorta i Tricorta"]},"cs":{"name":"Maligní atrofická papulóza","synonyms":["Degosova choroba","Köhlmeierova-Degosova nemoc","Köhlmeierův-Degosův-Delortův-Tricortův syndrom","Köhlmeier-Degosova nemoc","Köhlmeier-Degos-Delort-Tricortův syndrom"]},"uk":{"name":"Злоякісний атрофічний папулез","synonyms":["Кутанно-слизово-кишковий синдром","MAP","Атрофічний папулез злоякісний"],"definition":"Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal."},"zh":{"name":"恶性萎缩性丘疹病","synonyms":["Köhlmeier-Degos-Delort-Tricort 综合征"]},"tr":{"name":"Habis atrofik papüloz","synonyms":["Degos hastalığı","Köhlmeier-Degos hastalığı","Papüloz atrofik habis","Köhlmeier-Degos-Delort-Tricort sendromu"]}},"xrefs":[{"source":"OMIM","code":"602248","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I77.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EF5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"792094526"},{"source":"MONDO","code":"0011208","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054853","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221011","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6249","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064281","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":656071,"name":"Atrophic papulosis","classifications":[156,187]},{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-18","source":null,"terms":[{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031368","label":"Intestinal perforation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010547","label":"Muscle flaccidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001697","label":"Abnormal pericardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010936","label":"Abnormality of the lower urinary tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012089","label":"Arteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100819","label":"Intestinal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}