Skin fragility-woolly hair-palmoplantar keratoderma syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SFWHS
Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
Number of Symptoms 18
OrphanetNr: 293165
OMIM Id: 607655
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000653) Sparse eyelashes 58 / 7739
2
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
3
 (HPO:0007548) Palmoplantar keratosis with erythema and scale 1 / 7739
4
 (HPO:0001508) Failure to thrive 454 / 7739
5
 (HPO:0008404) Nail dystrophy 89 / 7739
6
 (HPO:0001030) Fragile skin 25 / 7739
7
 (HPO:0002164) Nail dysplasia 82 / 7739
8
 (HPO:0001596) Alopecia 162 / 7739
9
 (HPO:0002224) Woolly hair 26 / 7739
10
 (HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
11
 (OMIM) Perinuclear condensation of the suprabasal keratin intermediate filament network 1 / 7739
12
 (OMIM) Focal detachment of desmosomes into the intercellular spaces 1 / 7739
13
 (OMIM) Acantholysis throughout all layers of the skin 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Fragility with blistering (neonatal onset) 1 / 7739
16
 (OMIM) Hyperkeratotic plaques on trunk and limbs 1 / 7739
17
 (OMIM) Normal 14 / 7739
18
 (OMIM) Peripheral and cytoplasmic desmoplakin staining (immunohistochemistry) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Whittock et al. (2002) reported 2 unrelated individuals with an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. They referred to ...
Molecular genetics OMIM In 2 probands with SFWHS, Whittock et al. (2002) performed mutation screening of desmoplakin and demonstrated compound heterozygosity for a nonsense/missense combination of mutations in both patients, cys809 to ter/asn287 to lys (C809X/N287K; see 125647.0004) and gln664 to ...