Bazex syndrome
Synonyms: Acrokeratosis of Bazex · Acrokeratosis paraneoplastica · Acrokeratosis paraneoplastica of Bazex
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare paraneoplastic syndrome characterized by acral psoriasiform lesions typically involving the ears, nose, fingers and nails of the hands and feet, but may also extend to cheeks, elbows, knees and trunk, with occasional pruritus. In a majority of cases the cutaneous lesions precede the symptoms/diagnosis of malignancy (generally involving the upper aerodigestive tract, but also other squamous cell malignancies).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bazex syndrome | Acrokeratosis of Bazex · Acrokeratosis paraneoplastica · Acrokeratosis paraneoplastica of Bazex |
| fr | Syndrome de Bazex | Acrokératose de Bazex · Acrokératose paranéoplasique · Acrokératose paranéoplasique de Bazex |
| de | Bazex-Syndrom | Acrokeratosis paraneoplastica von Bazex · Akrokeratose Typ Bazex · Akrokeratose, paraneoplastische |
| es | Síndrome de Bazex | Acroqueratosis de Bazex · Acroqueratosis paraneoplásica · Acroqueratosis paraneoplásica de Bazex |
| it | Sindrome di Bazex | Acrocheratosi di Bazex · Acrocheratosi paraneoplastica |
| nl | Syndroom van Bazex | Acrokeratosis paraneoplastica · Acrokeratosis paraneoplastica van Bazex · Acrokeratose van Bazex |
| pt | Síndrome Bazex | |
| pl | Zespół Bazex | Akrokeratoza Bazex · Akrokeratoza paraneoplastyczna · Akrokeratoza paraneoplastyczna Bazex |
| cs | Bazexův syndrom | Bazexova akrokeratóza · Acrokeratosis paraneoplastica Bazex |
| uk | Синдром Базекса | Акрокератоз Базекс · Паранеопластичний акрокератоз · Паранеопластичний акрокератоз Базекса |
| zh | Bazex 综合征 | Bazex型副肿瘤性肢端角化症 |
| tr | Bazex sendromu | Bazex'in akrokeratozu · Akrokeratoz paraneoplastika · Bazex'in akrokeratoz paraneoplastisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L44.8 | NTBT | attributed | validated |
| ICD-11 | EL10 | NTBT | index | validated |
| UMLS | C0406355 | E | validated | |
| MedDRA | 10065247 | 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 (2):
- ORPHA:90077Other acquired skin disease
rare skin diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic 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 | 145 cases | Worldwide | Case(s) | Validated | 18775590[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18775590[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
15 annotations · validated 2016-10-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000962 | Hyperkeratosis | |
| HP:0008404 | Nail dystrophy | |
| HP:0002664 | Neoplasm | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0001036 | Parakeratosis | |
| HP:0040189 | Scaling skin | |
| HP:0011367 | Yellow nails | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001903 | Anemia | |
| HP:0100816 | Lip hyperpigmentation | |
| HP:0012034 | Liposarcoma | |
| Occasional (29-5%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0000969 | Edema | |
| Very rare (<4-1%) | ||
| HP:0030078 | Lung adenocarcinoma | |
| HP:0000989 | Pruritus | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 26765420[PMID]_27721759[PMID]_24346922[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166113
- This record as JSON: /data/d/166113.json