Transgrediens et progrediens palmoplantar keratoderma
Synonyms: Greither disease · Keratosis extremitatum hereditaria progrediens · Keratosis palmoplantaris transgrediens et progrediens · Progressive diffuse PPK · Progressive diffuse palmoplantar keratoderma · Transgrediens et progrediens PPK
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transgrediens et progrediens palmoplantar keratoderma | Greither disease · Keratosis extremitatum hereditaria progrediens · Keratosis palmoplantaris transgrediens et progrediens · Progressive diffuse PPK · Progressive diffuse palmoplantar keratoderma · Transgrediens et progrediens PPK |
| fr | Kératodermie palmoplantaire transgrediens et progrediens | KPP diffuse progressive · KPP transgrediens et progrediens · Keratosis extremitatum hereditaria progrediens · Keratosis palmoplantaris transgrediens et progrediens · Kératodermie palmoplantaire diffuse progressive · Maladie de Greither |
| de | Keratoderma palmoplantaris transgrediens et progrediens | Diffuse palmoplantare progressive Hyperkeratose · Greither-Syndrom · Keratosis extremitatum hereditaria progrediens · PPK, diffuse progressive |
| es | Queratodermia palmoplantar transgrediens y progrediens | Enfermedad de Greither · PPK difusa progresiva · PPK transgrediens y progrediens · Queratodermia palmoplantar difusa progresiva · Queratosis palmoplantar transgrediens y progrediens · Queratosis progrediens hereditaria de las extremidades |
| it | Cheratoderma palmoplantare transgrediens e progrediens | Cheratoderma palmoplantare diffuso progressivo · Keratosis extremitatum hereditaria progrediens · Keratosis palmoplantaris transgrediens et progrediens · Malattia di Greither · PPK diffuso progressivo · PPK transgrediens e progrediens |
| nl | Palmoplantaire keratoderma transgrediens en progrediens | Keratosis extremitatum hereditaria progrediens · Keratosis palmoplantaris transgrediens et progrediens · Progressieve diffuse PPK · Progressieve diffuse keratoderma van handpalm of voetzool · Progressieve diffuse palmoplantaire keratodermie · Transgrediens et progrediens PPK · Ziekte van Greither |
| pt | Queratodermia palmoplantar transgrediens et progrediens | Mal de Meleda |
| pl | Rogowiec dłoniowo - podeszwowy z tendencją do transgrediencji i progrediencji | Choroba Greithera · Keratosis extremitatum hereditaria progrediens · Keratosis palmoplantaris transgrediens et progrediens · Postępujący rozlany PPK · Postępujący rozlany rogowiec dłoni i stóp · PPK z tendencją do transgrediencji i progrediencji |
| cs | Transgredientní a progredientní palmoplantární keratoderma | Greitherova choroba · Keratosis extremitatum hereditaria progrediens · Keratosis palmoplantaris transgrediens et progrediens · Progresivní difuzní PPK · Progresivní difuzní palmoplantární keratoderma · Transgredientní a progredientní PPK |
| uk | Трансгресивна та прогресуюча долонно-підошвова кератодермія | Хвороба Гретера · Спадковий екстремальний прогресуючий кератоз · Кератоз долонь трансгредиентний та прогредиентний · Прогресуюча дифузна долонно-підошовна кератодермія · Прогресивна дифузна ППК · Transgrediens et progrediens PPK |
| zh | 掌跖角化病 | 逾越型和进育型掌跖角化病 |
| tr | Transgrediens et progrediens palmoplantar keratoderma | Greither hastalığı · ilerleyici yaygın PPK · Transgrediens ve progrediens PPK · İlerleyici yaygın palmoplantar keratoderma · Keratosis ekstremitatum hereditaria progrediens · Keratoz palmoplantaris transgrediens ve progrediens |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133200 | NTBT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | attributed | validated |
| MONDO | 0018853 | E | validated | |
| UMLS | C1851480 | E | validated | |
| GARD | 3096 | 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:98349Autosomal dominant isolated diffuse palmoplantar keratoderma
rare genetic diseases; rare skin 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 | 21 cases | Worldwide | Case(s) | Validated | 8274799[PMID]_10738633[PMID]_16227096[PMID]_32864403[PMID]_Iranian Journal of Dermatology[OTHER]_International Journal of Advances in Medicine(IJAM)[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8274799[PMID]_10738633[PMID]_16227096[PMID]_32864403[PMID]_Iranian Journal of Dermatology[OTHER]_International Journal of Advances in Medicine (IJAM)[OTHER]_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.
HPO phenotypes
18 annotations · validated 2021-11-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | |
| Frequent (79-30%) | ||
| HP:0030318 | Angular cheilitis | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0001041 | Facial erythema | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0000218 | High palate | |
| HP:0001795 | Hyperconvex nail | |
| HP:0007404 | Nonepidermolytic palmoplantar keratoderma | |
| HP:0010765 | Palmar hyperkeratosis | |
| HP:0007556 | Plantar hyperkeratosis | |
| HP:0005406 | Recurrent bacterial skin infections | |
| HP:0011370 | Recurrent cutaneous fungal infections | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0009775 | Amniotic constriction ring | |
| HP:0025474 | Erythematous plaque | |
| HP:0031452 | Lichenoid skin lesion | |
| HP:0001805 | Onychogryphosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31911611[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/495
- This record as JSON: /data/d/495.json