Diffuse palmoplantar keratoderma with painful fissures

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 24
OrphanetNr: 369999
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: Autosomal dominant isolated diffuse palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000975) Hyperhidrosis rare [HPO:skoehler] 64 / 7739
2
(HPO:0000956) Acanthosis nigricans 54 / 7739
3
(HPO:0007501) Streaks of hyperkeratosis along each finger onto the palm 1 / 7739
4
(HPO:0000982) Palmoplantar keratoderma 40 / 7739
5
(OMIM) Onycholysis, mild (in some patients) 2 / 7739
6
(OMIM) Separation of keratinocytes in upper spinous and granular cell layers 2 / 7739
7
(OMIM) Yellowish discoloration (in some patients) 2 / 7739
8
(OMIM) Widening of intercellular spaces 2 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Hyperkeratosis of pressure sites of palms and soles 2 / 7739
11
(OMIM) Focal hyperkeratosis (in some patients) 2 / 7739
12
(OMIM) Hyperkeratotic plaques on anterolateral ankle area (in some patients) 2 / 7739
13
(OMIM) Orthohyperkeratosis 4 / 7739
14
(OMIM) Whitish discoloration (in some patients) 2 / 7739
15
(OMIM) Separation of keratinocytes in spinous layer 2 / 7739
16
(OMIM) Normal keratin intermediate filaments 2 / 7739
17
(OMIM) Papillomatosis Hypergranulosis 2 / 7739
18
(OMIM) Hyperkeratotic plaques on anterior knee area (in some patients) 2 / 7739
19
(OMIM) Diffuse hyperkeratosis (in some patients) 2 / 7739
20
(OMIM) Longitudinal hyperkeratotic lesions along flexor surface of each finger, extending to palm 2 / 7739
21
(OMIM) Nail dystrophy, mild (in some patients) 2 / 7739
22
(OMIM) Ridging (in some patients) 2 / 7739
23
(OMIM) Hyperkeratosis, marked 3 / 7739
24
(OMIM) Hyperkeratosis at corners of mouth (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 ...