Subcutaneous panniculitis-like T-cell lymphoma
Synonyms: SPTCL · Subcutaneous panniculitic T-cell lymphoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare cytotoxic cutaneous alpha-beta T-cell lymphoma characterized by solitary or multiple erythematous subcutaneous nodules and plaques that can be localized to the lower extremities or generalized. It has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue and often associated with hemophagocytic lymphohistiocytosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Subcutaneous panniculitis-like T-cell lymphoma | SPTCL · Subcutaneous panniculitic T-cell lymphoma |
| fr | Lymphome T sous-cutané type panniculite | SPTCL |
| de | T-Zell-Lymphom, subkutanes Pannikulitis-ähnliches | SPTCL · Subkutanes Pannikulitis-artiges T-Zell-Lymphom · T-Zell-Lymphom, pannikulitisches subkutanes |
| es | Linfoma subcutáneo de células T similar a paniculitis | Linfoma de células T subcutáneo paniculítico · Linfoma subcutáneo de células T paniculitis-like · SPTCL |
| it | Linfoma sottocutaneo simil-panniculitico a cellule T | Linfoma panniculitico sottocutaneo a cellule T · SPTCL |
| nl | Subcutaan panniculitis-achtig T-cellymfoom | SPTCL · Subcutaan panniculitisachtig T-cellymfoom |
| pt | Linfoma de células T, paniculite subcutânea-like | |
| pl | Podskórny chłoniak T-komórkowy przypominający zapalenie tkanki podskórnej | SPTCL |
| cs | Subkutánní T-buněčný lymfom podobný panikulitidě | SPTCL · Subkutánní panikulitický T-buněčný lymfom |
| uk | Підшкірна паннікулітоподібна Т-клітинна лімфома | SPTCL · Підшкірна паннікулітна Т-клітинна лімфома |
| zh | 皮下脂膜炎样T细胞淋巴瘤 | 皮下脂膜炎性T-细胞淋巴瘤 |
| tr | Deri altı pannikülit benzeri T-hücreli lenfoma | SPTCL · Deri altı panikülitik T hücreli lenfoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618398 | E | validated | |
| ICD-10 | C86.3 | E | specific | validated |
| ICD-11 | 2B00 | E | specific | validated |
| MONDO | 0019475 | E | validated | |
| MeSH | C537503 | E | validated | |
| UMLS | C0522624 | E | validated | |
| GARD | 10193 | 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 (1):
- ORPHA:178548Indolent primary cutaneous T-cell lymphoma
rare skin diseases; rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HAVCR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18437 | ENSG00000135077 | 606652 | 5q33.3 | hepatitis A virus cellular receptor 2 | 30374066[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
11 annotations · validated 2019-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030350 | Erythematous papule | |
| HP:0012490 | Panniculitis | |
| Frequent (79-30%) | ||
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0025143 | Chills | |
| HP:0025474 | Erythematous plaque | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0012156 | Hemophagocytosis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0200042 | Skin ulcer | |
| HP:0001824 | Weight loss | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30374066[PMID]_22829967[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86884
- This record as JSON: /data/d/86884.json