Generalized peeling skin syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: DECIDUOUS SKIN
SKIN PEELING, FAMILIAL CONTINUOUS GENERALIZED
KERATOLYSIS EXFOLIATIVA CONGENITA
PEELING SKIN SYNDROME, TYPE B
PSS
Generalized PSS
Generalized deciduous skin
Number of Symptoms 18
OrphanetNr: 263543
OMIM Id: 270300
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:0004322) Short stature 1232 / 7739
2
 (HPO:0010783) Erythema 138 / 7739
3
 (HPO:0001806) Onycholysis 20 / 7739
4
 (HPO:0002299) Brittle hair 52 / 7739
5
 (HPO:0000989) Pruritus 111 / 7739
6
 (HPO:0003212) Increased IgE level 13 / 7739
7
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
8
 (HPO:0002099) Asthma 62 / 7739
9
 (OMIM) Superficial generalized lifelong skin peeling (sparing palms and soles) 2 / 7739
10
 (OMIM) Fragile hair 5 / 7739
11
 (OMIM) Elevated levels of serum IgE 2 / 7739
12
 (OMIM) Vesicular lesions (inflammatory type B) 2 / 7739
13
 (OMIM) Generalized erythema (inflammatory type B) 2 / 7739
14
 (OMIM) Cleavage at junction of stratum corneum and stratum granulosum 2 / 7739
15
 (HPO:0003577) Congenital onset 133 / 7739
16
 (OMIM) Low plasma tryptophan (inflammatory type B) 2 / 7739
17
 (OMIM) Oncholysis, distal 2 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Two main subtypes of peeling skin syndrome, noninflammatory type A and inflammatory type B, have been suggested (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is an ...
Clinical Description OMIM Kurban and Azar (1969) described 3 affected males and an affected female among the 9 offspring of a first-cousin marriage. No previous instance of familial occurrence of this condition had been described. Fox (1921) and Bechet (1938) described ...
Molecular genetics OMIM In 4 affected individuals from a large consanguineous Roma family from Germany with generalized skin peeling, pruritus, and atopy mapping to chromosome 6p21, Oji et al. (2010) analyzed the functional candidate gene CDSN (602593), encoding corneodesmosin, and identified ...