{"orpha":199244,"name":"Nelson syndrome","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199244/","orphanet_url":"https://www.orpha.net/en/disease/detail/199244","names":{"fr":{"name":"Syndrome de Nelson","definition":"Maladie endocrinienne rare acquise caractérisée par la triade hyperpigmentation diffuse de la peau et des muqueuses, taux sérique très élevé d'adrénocorticotrophine (ACTH) et macroadénome corticotrope, se manifestant après une surrénalectomie bilatérale totale réalisée dans le cadre du traitement de la maladie de Cushing. Par ailleurs, les patients peuvent présenter céphalées, anomalies du champ visuel, paralysie du nerf facial, apoplexie hypophysaire, diabète insipide, panhypopituitarisme et, dans de rares cas, kystes paratubaires ou tumeurs paratesticulaires."},"de":{"name":"Nelson-Syndrom","definition":"Eine seltene, erworbene endokrine Erkrankung, die durch die Trias einer diffusen Hyperpigmentierung von Haut und Schleimhäuten, eines deutlich erhöhten Serum-Adrenocorticotropin (ACTH)-Spiegels und eines sich vergrößernden kortikotropen Adenoms gekennzeichnet ist und sich nach einer vollständigen bilateralen Adrenalektomie zur Behandlung des Cushing-Syndroms manifestiert. Darüber hinaus können die Patienten Kopfschmerzen, Gesichtsfeldausfälle, Hirnnervenlähmung, Hypophysenapoplexie, Diabetes inspidus, Panhypopituitarismus und gelegentlich paraovarielle oder paratestikuläre Tumoren aufweisen."},"es":{"name":"Síndrome de Nelson","definition":"Es una enfermedad endocrina adquirida y poco frecuente caracterizada por la triada de hiperpigmentación difusa de la piel y mucosas, niveles de adrenocorticotropina sérica significativamente elevados (ACTH) y adenoma corticotrófico de crecimiento expansivo, que se manifiesta después de la adrenalectomía total bilateral realizada como tratamiento de la enfermedad de Cushing. Además, los pacientes pueden presentarse con cefaleas, alteraciones del campo visual, parálisis de los nervios craneales, apoplejía hipofisaria, diabetes insípida, panhipopituitarismo y, ocasionalmente, tumores paraováricos o paratesticulares."},"it":{"name":"Sindrome di Nelson","definition":"È un'endocrinopatia acquisita rara, caratterizzata dalla triade iperpigmentazione diffusa della cute e delle mucose, livelli molto elevati di adrenocorticotropina (ACTH) nel siero e adenoma espansivo corticotropo. La malattia insorge a seguito di un'adrenalectomia totale bilaterale eseguita per il trattamento della malattia di Cushing. I pazienti possono presentare anche cefalea, difetti del campo visivo, paralisi dei nervi cranici, apoplessia ipofisaria, diabete insipido, panipopituitarismo e, occasionalmente, tumori paraovarici o paratesticolari."},"nl":{"name":"Syndroom van Nelson","definition":"Een zeldzame, verworven, endocriene ziekte die gekarakteriseerd wordt door de triade van diffuse hyperpigmentatie van huid en slijmvlies, aanzienlijk verhoogde adrenocorticotropine (ACTH)-gehaltes in het serum en een uitdijend corticotroop adenoom, en die zich manifesteert na totale bilaterale adrenalectomie uitgevoerd voor de behandeling van ziekte van Cushing. Bijkomend kunnen patiënten zich presenteren met hoofdpijn, defecten van het gezichtsveld, hersenzenuwverlamming, apoplexie van de hypofyse, diabetes insipidus, panhypopituïtarisme, en, occasioneel, paraovariële of paratesticulaire tumoren."},"pt":{"name":"Síndrome de Nelson"},"pl":{"name":"Zespół Nelsona"},"cs":{"name":"Nelsonův syndrom"},"uk":{"name":"Синдром Нельсона","definition":"A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors."},"zh":{"name":"纳尔逊综合征","definition":"纳尔逊综合征是一种罕见的获得性内分泌疾病，其主要临床表现为弥漫性皮肤、黏膜色素沉着，血清促肾上腺皮质激素(ACTH)水平显著升高和促肾上腺皮质激素腺瘤增大，是为治疗库欣病而行双侧肾上腺全切除术后的表现。此外，患者可能会出现头痛、视野缺损、颅神经麻痹、垂体卒中、糖尿病、垂体功能减退，部分患者出现卵巢旁肿瘤或睾丸旁肿瘤。"},"tr":{"name":"Nelson sendromu"}},"xrefs":[{"source":"ICD-10","code":"E24.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5A70.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1945677910"},{"source":"MONDO","code":"0016035","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009347","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027577","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7170","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028913","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":314753,"name":"Functioning pituitary adenoma","classifications":[193,202]},{"orpha":715120,"name":"Hyperpituitarism","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-03","source":"17062771[PMID]_23539733[PMID]_21289243[PMID]_21131539[PMID]_18413427[PMID]_17263968[PMID]_12466338[PMID]_9231094[PMID]_8077377[PMID]_8393886[PMID]_1322426[PMID]_2841851[PMID]_2986564[PMID]_2981103[PMID]_6323516[PMID]_7072659[PMID]","terms":[{"hpo":"HP:0011749","label":"Adrenocorticotropic hormone excess","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011744","label":"Secondary hypercorticolism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012030","label":"Increased urinary cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008291","label":"Pituitary corticotropic cell adenoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030591","label":"Abnormal kinetic perimetry test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030521","label":"Bitemporal hemianopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007807","label":"Optic nerve compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009050","label":"Quadriceps muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430022","label":"Abnormality of the sphenoid sinus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011763","label":"Pituitary carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Very rare (<4-1%)","criteria":null}]}}