Focal palmoplantar keratoderma with joint keratoses

General Information (adopted from Orphanet):

Synonyms, Signs: KERATODERMA, PALMOPLANTAR, STRIATE FORM I
STRIATE PALMOPLANTAR KERATODERMA I
KERATOSIS PALMOPLANTARIS STRIATA I
SPPK1
PPKS1
KPPS1
Number of Symptoms 21
OrphanetNr: 370002
OMIM Id: 148700
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated focal palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000975) Hyperhidrosis 64 / 7739
2
(HPO:0000956) Acanthosis nigricans 54 / 7739
3
(OMIM) Focal hyperkeratosis (in some patients) 2 / 7739
4
(OMIM) Papillomatosis Hypergranulosis 2 / 7739
5
(OMIM) Widening of intercellular spaces 2 / 7739
6
(OMIM) Ridging (in some patients) 2 / 7739
7
(OMIM) Separation of keratinocytes in spinous layer 2 / 7739
8
(OMIM) Hyperkeratotic plaques on anterior knee area (in some patients) 2 / 7739
9
(OMIM) Hyperkeratotic plaques on anterolateral ankle area (in some patients) 2 / 7739
10
(OMIM) Diffuse hyperkeratosis (in some patients) 2 / 7739
11
(OMIM) Orthohyperkeratosis 4 / 7739
12
(OMIM) Normal keratin intermediate filaments 2 / 7739
13
(OMIM) Hyperkeratosis at corners of mouth (in some patients) 2 / 7739
14
(OMIM) Onycholysis, mild (in some patients) 2 / 7739
15
(OMIM) Hyperkeratosis of pressure sites of palms and soles 2 / 7739
16
(OMIM) Nail dystrophy, mild (in some patients) 2 / 7739
17
(OMIM) Separation of keratinocytes in upper spinous and granular cell layers 2 / 7739
18
(OMIM) Hyperkeratosis, marked 3 / 7739
19
(OMIM) Whitish discoloration (in some patients) 2 / 7739
20
(OMIM) Longitudinal hyperkeratotic lesions along flexor surface of each finger, extending to palm 2 / 7739
21
(OMIM) Yellowish discoloration (in some patients) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger ...
Diagnosis OMIM Bergman et al. (2010) analyzed biopsies from 4 patients with DSG1 mutations, including the patient with diffuse PPK originally reported by Keren et al. (2005) and the 3 patients with PPKS previously studied by Hershkovitz et al. (2008), ...
Clinical Description OMIM The lesions of the hands consist of a streak of hyperkeratosis running the length of each finger and onto the palm. Bologna (1966) reported a 4-generation kindred in which involvement of males predominated in a striking manner. This ...
Molecular genetics OMIM In a Dutch family with striate palmoplantar keratoderma, Rickman et al. (1999) identified a heterozygous splicing mutation in the gene encoding desmoglein (125670.0001).

In 5 unrelated patients with PPKS, including an affected member of the German ...