ORPHA:2198
Palmoplantar keratoderma-esophageal carcinoma syndrome
Synonyms: Bennion-Patterson syndrome · Howell-Evans syndrome · Keratosis palmoplantaris-esophageal carcinoma syndrome · Palmoplantar hyperkeratosis-esophageal carcinoma syndrome · Tylosis-oesophageal carcinoma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Palmoplantar keratoderma-esophageal carcinoma syndrome | Bennion-Patterson syndrome · Howell-Evans syndrome · Keratosis palmoplantaris-esophageal carcinoma syndrome · Palmoplantar hyperkeratosis-esophageal carcinoma syndrome · Tylosis-oesophageal carcinoma syndrome |
| fr | Syndrome de kératodermie palmoplantaire-carcinome de l'oesophage | Syndrome d'hyperkératose palmoplantaire-carcinome de l'oesophage · Syndrome de Bennion-Patterson · Syndrome de Howell-Evans · Syndrome de tylose-cancer de l'oesophage |
| de | Palmoplantarkeratose-Ösophaguskarzinom-Syndrom | Bennion-Patterson-Syndrom · Howell-Evans-Syndrom · Palmoplantare Hyperkeratose - Speiseröhrenkarzinom · Palmoplantare Keratodermie mit Speiseröhrenkarzinom · Tylosis - Speiseröhrenkarzinom |
| es | Síndrome de queratodermia palmoplantar-carcinoma esofágico | Síndrome de Bennion-Patterson · Síndrome de Howell-Evans · Síndrome de hiperqueratosis palmoplantar-carcinoma esofágico · Síndrome de queratosis palmoplantar-carcinoma esofágico · Tilosis-carcinoma esofágico |
| it | Sindrome cheratoderma palmoplantare-carcinoma dell'esofago | Sindrome cheratosi palmoplantare-carcinoma esofageo · Sindrome di Bennion-Patterson · Sindrome di Howell-Evans · Sindrome ipercheratosi palmoplantare-carcinoma esofageo · Tilosi - carcinoma esofageo |
| nl | Palmoplantaire keratodermie - oesofageaal carcinoom-syndroom | Bennion-Pattersonsyndroom · Howell-Evanssyndroom · Hyperkeratose van handpalm of voetzool - oesofageaal carcinoom-syndroom · Keratodermie van handpalm of voetzool - oesofageaal carcinoom-syndroom · Keratosis palmoplantaris - oesofageaal carcinoom-syndroom · Palmoplantaire hyperkeratose - oesofageaal carcinoom-syndroom · Tylose - oesofageaal carcinoom |
| pt | Síndrome de queratodermia palmoplantar-carcinoma esofágico | Síndrome Bennion-Patterson · Tilose-carcinoma do esófago |
| pl | Zespół rogowiec dłoni i stóp - nowotwór przełyku | Hiperkeratoza dłoni i stóp - rak przełyku · Keratosis palmoplantaris-esophageal carcinoma syndrome · Zespół Benniona i Pattersona · Zespół hiperkeratozy dłoni i stóp oraz nowotworu przełyku · Zespół Howella i Evansa |
| cs | Syndrom zahrnující palmoplantární keratoderma a karcinom jícnu | Syndrom zahrnující palmoplantární keratózu a karcinom jícnu · Syndrom zahrnující palmoplantární hyperkeratózu a karcinom jícnu · Syndrom zahrnující tylózu a karcinom jícnu · Bennionův-Pattersonův syndrom · Howellův-Evansův syndrom · Bennion-Pattersonův syndrom · Howell-Evansův syndrom |
| uk | Синдром долонно-підошовної кератодермії-стравохідної карциноми | Синдром Бенніона-Паттерсона · Синдром Хауелла-Еванса · Синдром долонно-підошовного кератозу - карцинома стравоходу · Синдром долонно-підошовного гіперкератозу - карцинома стравоходу · Синдром тилозно-стравохідної карциноми |
| zh | 掌跖角化病-食管癌综合征 | 表皮松解性角化过度症-食管癌综合征 |
| tr | Palmoplantar keratoderma-özofagus karsinom sendromu | Howell-Evans sendromu · Bennion-Patterson sendromu · Tiloz-özofageal karsinom sendromu · Keratoz palmoplantaris-Özofageal karsinom sendromu · Palmoplantar hiperkeratoz-Özofageal karsinom sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148500 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.31 | NTBT | index | validated |
| MONDO | 0007856 | E | validated | |
| MeSH | C536164 | E | validated | |
| UMLS | C1835664 | E | validated | |
| GARD | 3102 | 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 (4):
- ORPHA:98353Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:165658Genetic gastro-esophageal disease
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:101936Rare gastroesophageal disease
rare gastroenterological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RHBDF2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:20788 | ENSG00000129667 | 614404 | 17q25.1 | rhomboid 5 homolog 2 | 22265016[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
15 annotations · validated 2017-07-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002250 | Abnormal large intestine morphology | |
| HP:0100751 | Esophageal neoplasm | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000982 | Palmoplantar keratoderma | |
| Frequent (79-30%) | ||
| HP:0025270 | Abnormal esophagus physiology | |
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0001541 | Ascites | |
| HP:0002015 | Dysphagia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002240 | Hepatomegaly | |
| HP:0004396 | Poor appetite | |
| HP:0002033 | Poor suck | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0100760 | Clubbing of toes | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2198
- This record as JSON: /data/d/2198.json