Aquagenic palmoplantar keratoderma
Synonyms: Aquagenic keratoderma · Aquagenic syringeal acrokeratoderma · Aquagenic wrinkling of the palms · Transient reactive papulotranslucent acrokeratoderma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aquagenic palmoplantar keratoderma | Aquagenic keratoderma · Aquagenic syringeal acrokeratoderma · Aquagenic wrinkling of the palms · Transient reactive papulotranslucent acrokeratoderma |
| fr | Kératodermie palmoplantaire aquagénique | Acrokératodermie syringéale aquagénique · Acrokératodermie transitoire réactive papulotranslucide · Kératodermie aquagénique · Kératodermie aquagénique palmaire · Kératodermie palmo-plantaire aquagénique · Pseudo-kératodermie aquagénique palmaire · Rides aquagéniques des paumes |
| de | Palmoplantarkeratose, aquagene | Akrokeratoderm, aquagenes · Aquagenes syringeales Akrokeratoderm · Faltenbildung der Handflächen, aquagene · Keratodermie, aquagene palmoplantare · Transientes reaktives papulotransluzentes Akrokeratoderm |
| es | Queratodermia palmoplantar acuagénica | Acroqueratodermia papulo-translúcida reactiva transitoria · Acroqueratodermia siríngea acuagénica · Arrugas acuagénicas de las palmas · Queratodermia acuagénica |
| it | Cheratoderma palmoplantare acquagenico | |
| nl | Aquagene palmoplantaire keratodermie | Aquagene keratodermie · Aquagene rimpeling van handpalmen · Aquagene syringeale acrokeratodermie · Voorbijgaande reactieve papulotranslucente acrokeratodermie |
| pt | Queratodermia palmoplantar aquagénica | |
| pl | Rogowiec dłoni i stóp zależny od kontaktu z wodą | Rogowiec zależny od kontaktu z wodą · Pomarszczenie dłoni zależne od wody · Rogowiec dłoni i stóp zależny od wody · Rogowiec dłoni i stóp z przejściowymi reaktywnymi przeświecającymi grudkami |
| cs | Palmoplantární keratoderma způsobená vodou | Aquagenic keratoderma · Aquagenic wrinkling of the palms · Aquagenic syringeal acrokeratoderma · Transient reactive papulotranslucent acrokeratoderma · Akvagenní keratoderma · Akvagenní vrásnění dlaní · Akvagenní syringeální akrokeratoderma · Přechodná reaktivní papulotranslucentní akrokeratoderma |
| uk | Аквагенна долонно-підошовна кератодермія | Аквагенна кератодермія · Аквагенна сироваткова акрокератодермія · Аквагенні зморшки на долонях · Транзиторна реактивна папульозно-прозора акрокератодермія |
| zh | 水源性掌跖角化病 | 短暂反应性丘疹半透明性角化病 |
| tr | Akuajenik palmoplantar keratoderma | Akuajenik keratoderma · Avuç içlerinin akuajenik kırışması · Akuajenik siringeal akrokeratoderma · Geçici reaktif papülotranslucent akrokeratoderma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L85.1 | NTBT | attributed | validated |
| ICD-11 | EK5Y | NTBT | index | validated |
| MONDO | 0044663 | E | validated | |
| UMLS | C4087301 | E | validated | |
| GARD | 12991 | 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:79359Other epidermal disorder
rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFTR | Candidate gene tested in | Not yet assessed | HGNC:1884 | ENSG00000001626 | 602421 | 7q31.2 | CF transmembrane conductance regulator |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24283504[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
12 annotations · validated 2021-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000982 | Palmoplantar keratoderma | |
| Frequent (79-30%) | ||
| HP:0007407 | Excessive skin wrinkling on dorsum of hands and fingers | |
| HP:0025080 | Orthokeratotic hyperkeratosis | |
| HP:0031248 | Palmar pruritus | |
| HP:0007410 | Palmoplantar hyperhidrosis | |
| HP:0031289 | White papule | |
| Occasional (29-5%) | ||
| HP:0006261 | Abnormal phalangeal joint morphology of the hand | |
| HP:0001047 | Atopic dermatitis | |
| HP:0000969 | Edema | |
| HP:0005425 | Recurrent sinopulmonary infections | |
| HP:0200035 | Skin plaque | |
| HP:0002725 | Systemic lupus erythematosus | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31310009[PMID]_31310009[PMID]_32986261[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/498359
- This record as JSON: /data/d/498359.json