PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL

General Information (adopted from Orphanet):

Synonyms, Signs: KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR
FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA
FNEPPK
Number of Symptoms 13
OrphanetNr:
OMIM Id: 613000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000982) Palmoplantar keratoderma 40 / 7739
2
(OMIM) Whitish opalescence of buccal mucosa 1 / 7739
3
(OMIM) No aggregated tonofilaments 2 / 7739
4
(OMIM) Whitish opalescence of hard palate 1 / 7739
5
(OMIM) No cytolysis or abnormal keratohyalin granules 1 / 7739
6
(OMIM) No large keratohyalin granules 2 / 7739
7
(OMIM) Keratosis pilaris of arms and legs 1 / 7739
8
(OMIM) Large hard compact painful masses of keratin at sites of recurrent friction on palms and soles 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Hyperkeratosis of stratum corneum 3 / 7739
11
(OMIM) Splinter hemorrhages 2 / 7739
12
(OMIM) Widened onychocorenal band 1 / 7739
13
(OMIM) Whitish opalescence of glans penis in circumcised males 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stevens et al. (1994) studied one 2-generation and two 3-generation families in which focal NEPPK segregated as an autosomal dominant with an age of onset of 6 to 7 years. Affected individuals developed large, hard, compact painful masses ...
Molecular genetics OMIM In 2 families with identical clinical phenotypes of focal NEPPK with follicular and orogenital hyperkeratosis, 1 of which was the large multigenerational family with linkage to chromosome 17q12-q21 previously studied by Stevens et al. (1994), Shamsher et al. ...