Acrokeratoelastoidosis of Costa
Synonyms: AKE · PPKP3 · Punctate palmoplantar hyperkeratosis type 3 · Punctate palmoplantar keratoderma type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrokeratoelastoidosis of Costa | AKE · PPKP3 · Punctate palmoplantar hyperkeratosis type 3 · Punctate palmoplantar keratoderma type 3 |
| fr | Acro-kérato-élastoïdose de Costa | AKE · Hyperkératose palmoplantaire ponctuée type 3 · KPPP3 · Kératodermie palmoplantaire ponctuée type 3 · PPKP3 |
| de | Akrokeratoelastoidose Costa | AKE · Hypokeratose, palmoplantare punktierte, Typ 3 · PPKP3 · Palmoplantarkeratose, punktierte, Typ 3 |
| es | Acroqueratoelastoidosis de Costa | AKE · Hiperqueratosis palmoplantar punctata tipo 3 · PPKP3 · Queratodermia palmoplantar punctata tipo 3 |
| it | Acrocheratoelastosi di Costa | AKE · Cheratoderma palmoplantare puntato, tipo 3 · Ipercheratosi palmoplantare puntata, tipo 3 · PPKP3 |
| nl | Acrokerato-elastoïdosis van Costa | AKE · PPKP3 · Puntvormige hyperkeratose van handpalm of voetzool type 3 · Puntvormige keratodermie van handpalm of voetzool type 3 · Puntvormige palmoplantaire hyperkeratose type 3 · Puntvormige palmoplantaire keratodermie type 3 |
| pt | Acroqueratoelastoidose de Costa | |
| pl | Keratoelastoza dłoni i stóp Costa | AKE · PPKP3 · Punktowa hiperkeratoza dłoni i stóp typu 3 · Punktowy rogowiec dłoni i stóp typu 3 · Zrogowacenie punktowe skóry dłoni i podeszew stóp typu 3 · Nadmierne rogowacenie skóry dłoni i podeszew typ 3 |
| cs | Costova akrokeratoelastoidóza | AKE · PPKP3 · Tečkovaná palmoplantární hyperkeratóza, typ 3 · Tečkovaná palmoplantární keratoderma, typ 3 |
| uk | Акрокератоеластоїдоз Коста | AKE · PPKP3 · Пунктирний долонно-підошовний гіперкератоз, тип 3 · Пунктирна долонно-підошовна кератодермія, тип 3 |
| zh | 肋骨肢端角化类弹力纤维病 | 点状掌跖角化过度3型 |
| tr | Kosta akrokeratoelastoidozu | AKE · PPKP3 · Punktata palmoplantar keratoderma tip 3 · Punktata palmoplantar hiperkeratoz tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 101850 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.32 | NTBT | index | validated |
| MONDO | 0007047 | E | validated | |
| MeSH | C535653 | E | validated | |
| UMLS | C0545044 | E | validated | |
| GARD | 125 | 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 (4):
- ORPHA:228224Acquired dermis elastic tissue disorder with increased elastic tissue
rare skin diseases - ORPHA:79356Acrokeratoderma
rare skin diseases - ORPHA:183441Genetic acrokeratoderma
rare genetic diseases - ORPHA:307995Marginal papular palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCDC91 | Disease-causing germline mutation(s) in | Assessed | HGNC:24855 | ENSG00000123106 | 617366 | 12p11.22 | coiled-coil domain containing 91 | 38627542[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
12 annotations · validated 2021-08-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025092 | Epidermal acanthosis | |
| HP:0025167 | Fragmented elastic fibers in the dermis | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| Frequent (79-30%) | ||
| HP:0002955 | Granulomatosis | |
| HP:0025114 | Hypergranulosis | |
| HP:0040162 | Orthokeratosis | |
| HP:0025507 | Yellow papule | |
| Occasional (29-5%) | ||
| HP:0006089 | Palmar hyperhidrosis | |
| HP:0025509 | Piezogenic pedal papules | |
| HP:0200035 | Skin plaque | |
| Very rare (<4-1%) | ||
| HP:0002814 | Abnormality of the lower limb | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 29634304[PMID]_29080320[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/38
- This record as JSON: /data/d/38.json