ORPHA:464321

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

Synonyms: Cutaneovisceral angiomatosis-thrombocytopenia syndrome · MLT · Multifocal lymphangioendotheliomatosis with thrombocytopenia

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: Infancy, Neonatal
Status: active

A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	Cutaneovisceral angiomatosis-thrombocytopenia syndrome · MLT · Multifocal lymphangioendotheliomatosis with thrombocytopenia
fr	Syndrome de lymphangioendothéliomatose multifocale-thrombocytopénie	Lymphangioendothéliomatose multifocale avec thrombocytopénie
de	Multifokale Lymphangioendotheliomatose-Thrombozytopenie-Syndrom	MLT · Viszerokutane Angiomatose-Thrombozytopenie-Syndrom
es	Síndrome de linfangioendoteliomatosis multifocal-trombocitopenia	Linfangioendoteliomatosis multifocal con trombocitopenia · MLT · Síndrome de angiomatosis cutáneo-visceral-trombocitopenia
it	Sindrome linfangioendoteliomatosi multifocale - trombocitopenia
nl	Multifocale lymfangio-endotheliomatose - trombocytopenie-syndroom	Cutaneoviscerale angiomatose - trombocytopenie-syndroom · MLT · Multifocale lymfangio-endotheliomatose met trombocytopenie
pt	Síndrome de linfagioendoteliomatose multifocal-trombocitopénia
pl	Zespół limfangioendoteliomatozy wieloogniskowej i małopłytkowości	Limfangioendoteliomatoza wieloogniskowa z małopłytkowością · MLT · Zespół naczyniakowatości trzewno-skórnej i małopłytkowości
cs	Syndrom multifokální lymfangioendoteliomatózy a trombocytopenie	MLT · Cutaneovisceral angiomatosis-thrombocytopenia syndrome · Multifocal lymphangioendotheliomatosis with thrombocytopenia · Syndrom kutánněviscerální angiomatózy a trombocytopenie · Multifokální lymfangioendoteliomatóza s trombocytopenií
uk	Синдром мультифокального лімфангіоендотеліоматозу-тромбоцитопенії	Синдром кутанно-вісцерального ангіоматозу-тромбоцитопенії · MLT · Мультифокальний лімфангіоендотеліоматоз з тромбоцитопенією
zh	多灶性淋巴管内皮细胞增生症-血小板减少症	多灶性淋巴管内皮细胞增生症-血小板减少症
tr	Multifokal lenfanjiyoendotelyomatoz-trombositopeni sendromu	MLT · Kutaneoviskeral anjiyomatoz-trombositopeni sendromu · Trombositopeni ile seyreden multifokal lenfanjiyoendotelyomatoz

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	D18.1	NTBT	attributed	validated
MONDO	0018735	E		validated
UMLS	C5575322	E		validated
GARD	10467	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:250908Rare neoplastic disease

Parents in the classifications (2):

ORPHA:673473Borderline vascular tumor
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases
ORPHA:248347Rare hemorrhagic disorder due to an acquired platelet anomaly
rare hematological diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET_26148948[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

46 annotations · validated 2021-05-27

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0011121	Abnormal skin morphology
HP:0025015	Abnormal vascular morphology
HP:0002239	Gastrointestinal hemorrhage
HP:0012718	Morphological abnormality of the gastrointestinal tract
HP:0001873	Thrombocytopenia
Frequent (79-30%)
HP:0002088	Abnormal lung morphology
HP:0030350	Erythematous papule
HP:0025474	Erythematous plaque
HP:0011354	Generalized abnormality of skin
HP:0002170	Intracranial hemorrhage
Occasional (29-5%)
HP:0001627	Abnormal heart morphology
HP:0000759	Abnormal peripheral nervous system morphology
HP:0011035	Abnormal renal cortex morphology
HP:0000478	Abnormality of the eye
HP:0000077	Abnormality of the kidney
HP:0001392	Abnormality of the liver
HP:0001342	Cerebral hemorrhage
HP:0012735	Cough
HP:0002248	Hematemesis
HP:0002573	Hematochezia
HP:0002105	Hemoptysis
HP:0002904	Hyperbilirubinemia
HP:0031368	Intestinal perforation
HP:0002249	Melena
HP:0002011	Morphological central nervous system abnormality
HP:0012758	Neurodevelopmental delay
HP:0002797	Osteolysis
HP:0009139	Osteolysis involving bones of the lower limbs
HP:0045039	Osteolysis involving bones of the upper limbs
HP:0001250	Seizure
HP:0003304	Spondylolysis
Very rare (<4-1%)
HP:0002134	Abnormal basal ganglia morphology
HP:0031938	Abnormal conus terminalis morphology
HP:0001541	Ascites
HP:0025085	Bloody diarrhea
HP:0010536	Central sleep apnea
HP:0002514	Cerebral calcification
HP:0025420	Diffuse alveolar hemorrhage
HP:0001945	Fever
HP:0003273	Hip contracture
HP:0001639	Hypertrophic cardiomyopathy
HP:0040242	Muscle hemorrhage
HP:0009830	Peripheral neuropathy
HP:0000573	Retinal hemorrhage
HP:0025064	Thalamic hemorrhage
HP:0007902	Vitreous hemorrhage

Run the differential on the 5 obligate / very frequent terms

Annotation source: 33641614[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/464321
This record as JSON: /data/d/464321.json