Acrokeratoelastoidosis of Costa
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ACROKERATOELASTOIDOSIS COLLAGENOUS PLAQUES OF HANDS AND FEET PPKP3 AKE Punctate palmoplantar keratoderma type 3 Punctate palmoplantar hyperkeratosis type 3 |
| Number of Symptoms | 9 |
| OrphanetNr: | 38 |
| OMIM Id: |
101850
|
| ICD-10: |
Q82.8 |
| UMLs: |
C0545044 |
| MeSH: |
C535653 |
| MedDRA: |
|
| Snomed: |
111029001 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Acquired dermis elastic tissue disorder with increased elastic tissue
-Rare skin disease Acrokeratoderma -Rare skin disease Genetic acrokeratoderma -Rare genetic disease Marginal papular palmoplantar keratoderma -Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0001357) | Plagiocephaly | Frequent [Orphanet] | 106 / 7739 | |||
|
|
(HPO:0200016) | Acrokeratosis | 4 / 7739 | ||||
|
|
(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
|
|
(HPO:0001597) | Abnormality of the nail | Frequent [Orphanet] | 115 / 7739 | |||
|
|
(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
|
(OMIM) | Acrokeratoelastoidosis | 1 / 7739 | ||||
|
|
(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0012740) | Papilloma | Very frequent [Orphanet] | 17 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Acrokeratoelastoidosis was first described and named by Costa (1953). Jung (1973) studied an extensively affected family. The palms and soles are primarily affected, but involvement may extend to the dorsum of the hands and feet in severe cases. ... |