Acral peeling skin syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PEELING SKIN SYNDROME, TYPE A
ACRAL PEELING SKIN SYNDROME
APSS
Acral PSS
Acral deciduous skin
Localized PSS
Localized deciduous skin
Number of Symptoms 8
OrphanetNr: 263534
OMIM Id: 609796
ICD-10: Q80.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Peeling skin syndrome
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
2
 (HPO:0010783) Erythema 138 / 7739
3
 (OMIM) Blistering at junction of stratum granulosum and stratum corneum 1 / 7739
4
 (OMIM) Erythema, residual painless 1 / 7739
5
 (OMIM) Spontaneous, non-scarring healing 1 / 7739
6
 (OMIM) Normal nails 15 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Superficial skin peeling (limited to dorsa of hands and feet) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Peeling skin syndrome (see 270300) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In the acral form, the dorsa of the hands and feet are predominantly affected. Cassidy et al. (2005) described 2 ...
Molecular genetics OMIM In all affected members of a Dutch and a Scottish kindred with APSS, Cassidy et al. (2005) found a homozygous missense mutation in the gene encoding transglutaminase-5 (TGM5), thr109 to met (603805.0001). Another homozygous missense mutation was found ...