Keratoderma hereditarium mutilans with ichthyosis
Synonyms: Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome · Loricrin keratoderma · Vohwinkel syndrome with ichthyosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keratoderma hereditarium mutilans with ichthyosis | Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome · Loricrin keratoderma · Vohwinkel syndrome with ichthyosis |
| fr | Kératodermie mutilante avec ichtyose | Syndrome de kératodermie-dermatose ichtyiosiforme-bêta-glucuronidase élévée · Kératodermie due à des anomalies de la loricrine · Maladie de Camisa · Syndrome de Vohwinkel-ichtyose |
| de | Keratoderma hereditarium mutilans mit Ichthyose | Camisa-Krankheit · Keratodermatose - ichthyosiforme Dermatose - erhöhte Beta-Glucuronidase-Aktivität · Loricrin-Keratoderma · Vohwinkel-Syndrom - Ichthyose |
| es | Queratodermia hereditaria mutilante con ictiosis | Enfermedad de Camisa · Queratodermia loricrina · Queratodermia-dermatosis ictiosiforme-beta-glucuronidasa elevada · Síndrome de Vohwinkel-ictiosis |
| it | Keratoderma hereditarium mutilans con ittiosi | Cheratoderma - dermatosi ittiosiforme - aumento di beta-glucuronidasi · Cheratoderma - dermatosi ittiosiforme - beta-glucuronidasi elevata · Cheratoderma da anomalie della loricrina · Malattia di Camisa · Sindrome di Vohwinkel - ittiosi |
| nl | Keratoderma hereditarium mutilans met ichthyosis | Keratodermie - ichthyosiforme dermatose - verhoogd bèta-glucuronidase-syndroom · Loricrine-keratodermie · Syndroom van Vohwinkel met ichthyosis · Ziekte van Camisa |
| pt | Queratodermia hereditária mutilante com ictiose | Síndrome Vohwinkel com ictiose |
| pl | Dziedziczna keratodermia zniekształcajaca z rybią łuską | Choroba Camisa · Keratodermia - zapalenie skóry w formie rybiej łuski - podwyższony poziom glukuronidazy · Keratodermia lorikrynowa · Zespół Vohwinkela - rybia łuska |
| cs | Keratoderma hereditarium mutilans s ichtyózou | Camisova nemoc · Syndrom zahrnující keratoderma, ichtyoziformní dermatózu a zvýšenou beta-glukuronidázu · Lorikrinové keratoderma · Syndrom zahrnující Vohwinkelův syndrom a ichtyózu · Vohwinkelův syndrom s ichtyózou |
| uk | Спадкова мутилююча кератодермія з іхтіозом | Хвороба Камізи · Синдром кератодермії - іхтіозиформного дерматозу - підвищеної бета-глюкуронідази · Лорикринова кератодермія · Синдром Фогвінкеля з іхтіозом |
| zh | 残毁遗传性皮肤角化病伴鱼鳞病 | 皮肤角化病-鱼鳞状皮肤病-β-葡糖醛酸糖苷酶升高综合征 |
| tr | İktiyoz ile seyreden keratoderma hereditarium mutilans | Camisa hastalığı · Loricrin keratoderma · İktiyozlu Vohwinkel sendromu · Keratoderma-iktiyoziform dermatoz-artmış beta-glukuronidaz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604117 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0011396 | E | validated | |
| UMLS | C1858805 | 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:307773Autosomal dominant diffuse mutilating palmoplantar keratoderma
rare genetic diseases; rare skin diseases - ORPHA:281082Inherited non-syndromic ichthyosis
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LORICRIN | Disease-causing germline mutation(s) in | Assessed | HGNC:6663 | ENSG00000203782 | 152445 | 1q21.3 | loricrin cornified envelope precursor protein | 17953701[PMID]_12072018[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 24346921[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24346921[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
18 annotations · validated 2021-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010491 | Digital constriction ring | |
| HP:0007503 | Generalized ichthyosis | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| Frequent (79-30%) | ||
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | |
| HP:0007465 | Honeycomb palmoplantar keratoderma | |
| HP:0025114 | Hypergranulosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0032541 | Knuckle pad | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0001036 | Parakeratosis | |
| HP:0025525 | Scaling skin on fingertip | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0025092 | Epidermal acanthosis | |
| HP:0008404 | Nail dystrophy | |
| HP:0001805 | Onychogryphosis | |
| HP:0040162 | Orthokeratosis | |
| Very rare (<4-1%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| Excluded (0%) | ||
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32695713[PMID]_32833329[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79395
- This record as JSON: /data/d/79395.json