Malignant atrophic papulosis
Synonyms: Cutaneo-muco-intestinal syndrome · MAP · Papulosis atrophicans maligna
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Malignant atrophic papulosis | Cutaneo-muco-intestinal syndrome · MAP · Papulosis atrophicans maligna |
| fr | Papulose atrophiante maligne | Papulosis atrophicans maligna · Syndrome cutanéo-muco-intestinal |
| de | Papulose, atrophische maligne | Köhlmeier-Degos-Krankheit · MAP · Papulosis maligna atrophicans |
| es | Papulosis atrófica maligna | Síndrome cutaneo-mucointestinal |
| it | Papulosi atrofica maligna | MAP · Papulosis atrophicans maligna · Sindrome cutaneo-muco-intestinale · Sindrome di Köhlmeier-Degos-Delort-Tricort |
| nl | Maligne atrofische papulose | Cutaneo-muco-intestinaal syndroom · MAP · Papulosis atrophicans maligna |
| pt | Papulose atrófica maligna | MAP · Papulose atroficans maligna · Síndrome cutâneo-muco-intestinal |
| pl | Grudkowatość złośliwa zanikowa | Choroba Degosa · Choroba Köhlmeiera i Degosa · Grudkowatość złośliwa zanikowa · Zespół Köhlmeiera, Degosa, Delorta i Tricorta |
| cs | Maligní atrofická papulóza | Degosova choroba · Köhlmeierova-Degosova nemoc · Köhlmeierův-Degosův-Delortův-Tricortův syndrom · Köhlmeier-Degosova nemoc · Köhlmeier-Degos-Delort-Tricortův syndrom |
| uk | Злоякісний атрофічний папулез | Кутанно-слизово-кишковий синдром · MAP · Атрофічний папулез злоякісний |
| zh | 恶性萎缩性丘疹病 | Köhlmeier-Degos-Delort-Tricort 综合征 |
| tr | Habis atrofik papüloz | Degos hastalığı · Köhlmeier-Degos hastalığı · Papüloz atrofik habis · Köhlmeier-Degos-Delort-Tricort sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602248 | E | validated | |
| ICD-10 | I77.8 | NTBT | index | validated |
| ICD-11 | EF5Y | NTBT | index | validated |
| MONDO | 0011208 | E | validated | |
| MeSH | D054853 | E | validated | |
| UMLS | C0221011 | E | validated | |
| GARD | 6249 | E | validated | |
| MedDRA | 10064281 | 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):
Parents in the classifications (3):
- ORPHA:656071Atrophic papulosis
rare genetic diseases; rare skin diseases - ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
34 annotations · validated 2018-01-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004334 | Dermal atrophy | |
| HP:0200034 | Papule | |
| HP:0100585 | Telangiectasia of the skin | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0012378 | Fatigue | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0031368 | Intestinal perforation | |
| HP:0010547 | Muscle flaccidity | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0001697 | Abnormal pericardium morphology | |
| HP:0010936 | Abnormality of the lower urinary tract | |
| HP:0100576 | Amaurosis fugax | |
| HP:0004420 | Arterial thrombosis | |
| HP:0012089 | Arteritis | |
| HP:0000518 | Cataract | |
| HP:0100749 | Chest pain | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000651 | Diplopia | |
| HP:0100819 | Intestinal fistula | |
| HP:0002140 | Ischemic stroke | |
| HP:0002076 | Migraine | |
| HP:0001658 | Myocardial infarction | |
| HP:0007021 | Pain insensitivity | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002586 | Peritonitis | |
| HP:0002202 | Pleural effusion | |
| HP:0000508 | Ptosis | |
| HP:0002878 | Respiratory failure | |
| HP:0001250 | Seizure | |
| HP:0002321 | Vertigo | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/679
- This record as JSON: /data/d/679.json