ORPHA:65748
Multiple self-healing squamous epithelioma
Synonyms: Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease · MSSE · Multiple keratoacanthoma, Ferguson-Smith type · Self-healing squamous epithelioma type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple self-healing squamous epithelioma | Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease · MSSE · Multiple keratoacanthoma, Ferguson-Smith type · Self-healing squamous epithelioma type 1 |
| fr | Epithéliome squameux multiple spontanément curable | Epithéliome squameux multiple à guérison spontanée de Ferguson-Smith · Kératoacanthome multiple de Ferguson-Smith · Kératoacanthome multiple familial · Maladie de Ferguson-Smith |
| de | Multiple selbstheilende squamöse Epitheliome | Epitheliome, selbstheilende squamöse, Typ 1 · Familäre primäre selbstheilende squamöse Epitheliome der Haut vom Typ Ferguson-Smith · Ferguson-Smith-Krankheit · Keratoakanthome, eruptive, Typ Ferguson-Smith · MSSE |
| es | Epitelioma escamoso autocurativo múltiple | Queratoacantoma múltiple tipo Ferguson-Smith · ESS1 · Enfermedad de Ferguson-Smith · Epitelioma escamoso autocurativo 1 · Epitelioma escamoso autocurativo primario familiar de la piel, tipo Ferguson-Smith · MSSE |
| it | Epitelioma squamoso multiplo a risoluzione spontanea | Cheratoacantoma multiplo, tipo Ferguson-Smith · Epitelioma cutaneo squamoso primitivo familiare a guarigione spontanea, tipo Ferguson-Smith · Epitelioma squamoso a guarigione spontanea, tipo 1 · MSSE · Malattia di Ferguson-Smith |
| nl | Meervoudig zelfhelend plaveiselepithelioom | Familiaal primair zelfhelend plaveiselepithelioom van de huid, Ferguson-Smith-type · MSSE · Meervoudig keratoacanthoom, Ferguson-Smith-type · Zelfhelend plaveiselepithelioom type 1 · Ziekte van Ferguson-Smith |
| pt | Epitelioma escamoso múltiplo auto-remitente | Doença de Ferguson-Smith · Epitelioma escamoso auto-remitente 1 · MSSE · Queratoacantoma múltiplo, tipo Ferguson-Smith |
| pl | Mnogie samowyleczalne nabłoniaki płaskonabłonkowe | Choroba Fergusona i Smitha · Mnogie rogowiaki kolczystokomórkowe typu Fergusona i Smitha · MSSE · Rodzinny pierwotny samowyleczalny nabłoniak płaskonabłonkowy, typu Fergusona i Smitha · Samowyleczalny nabłoniak płaskonabłonkowy typu 1 |
| cs | Mnohočetný sebehojící skvamózní epiteliom | Ferguson-Smithova choroba · MSSE · Samoúzdravný skvamózní epiteliom, typ 1 · Familiární primární samoúzdravný skvamózní epiteliom kůže, Fergusonův-Smithův typ · Mnohočetný keratoakantom, Ferguson-Smithův typ · Familiární primární samoúzdravný skvamózní epiteliom kůže, Ferguson-Smithův typ |
| uk | Множинна плоска епітеліома, що самовідновлюється | Сімейна первинна плоска епітеліома шкіри, що самовідновлюється, типу Фергюсона-Сміта · Хвороба Фергюсона-Сміта · MSSE · Множинна кератоакантома, тип Фергюсона-Сміта · Самовідновлювальна плоска епітеліома типу 1 |
| zh | 多发性自愈性鳞状上皮瘤 | 家族性原发性自愈性鳞状上皮瘤，Ferguson-Smith型 |
| tr | Çoklu kendi kendini iyileştiren skuamöz epiteliyom | MSSE · Ferguson-Smith hastalığı · Kendiliğinden iyileşen skuamöz epiteliyom tip 1 · çoklu keratoakantom, Ferguson-Smith tipi · Ailesel primer kendiliğinden iyileşen cilt epiteliyomu, Ferguson-Smith tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 132800 | E | validated | |
| ICD-10 | D48.5 | NTBT | attributed | validated |
| ICD-11 | 2C31.1 | NTBT | index | validated |
| MONDO | 0007566 | E | validated | |
| UMLS | C0546476 | E | validated | |
| GARD | 3090 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TGFBR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11772 | ENSG00000106799 | 190181 | 9q22.33 | transforming growth factor beta receptor 1 | 21358634[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24747516[PMID] |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 24747516[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65748
- This record as JSON: /data/d/65748.json