Epidermolysis bullosa simplex with mottled pigmentation

General Information (adopted from Orphanet):

Synonyms, Signs: SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERING
EBS-MP
Number of Symptoms 21
OrphanetNr: 79397
OMIM Id: 131960
ICD-10: Q81.0
UMLs: C0432316
MeSH: C535959
MedDRA:
Snomed: 254180002

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: Basal epidermolysis bullosa simplex
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0007530) Punctate palmoplantar hyperkeratosis 1 / 7739
2
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
3
 (HPO:0007438) Mottled pigmentation of the trunk and proximal extremities 1 / 7739
4
 (HPO:0001805) Thick nail 96 / 7739
5
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
6
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
7
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
8
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
9
 (HPO:0007494) Discrete 2 to 5-mm hyper- and hypopigmented macules 1 / 7739
10
 (HPO:0002164) Nail dysplasia 82 / 7739
11
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
12
 (HPO:0008404) Nail dystrophy 89 / 7739
13
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
14
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
15
 (HPO:0007495) Prematurely aged appearance Frequent [Orphanet] 44 / 7739
16
 (OMIM) Degeneration of basal epidermal cells 1 / 7739
17
 (OMIM) Blistering at acral sites 1 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
20
 (OMIM) Basal cell layer contains clumped keratin filaments 1 / 7739
21
 (OMIM) Epidermolysis bullosa simplex 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fischer and Gedde-Dahl (1979) reported a Swedish family in which 11 members presented with epidermolysis bullosa simplex with some unusual features, 10 of whom (1 male and 9 females) had a congenital mottled appearance of the skin. Both ...
Molecular genetics OMIM In 2 unrelated families with EBS-MP, Uttam et al. (1996) identified a mutation in the KRT5 gene (P25L; 148040.0009). The same mutation was found in a sporadic case (Irvine et al., 1997) and in 2 additional families (Irvine ...