Peeling skin syndrome type B

General Information (adopted from Orphanet):

Synonyms, Signs: DECIDUOUS SKIN
SKIN PEELING, FAMILIAL CONTINUOUS GENERALIZED
KERATOLYSIS EXFOLIATIVA CONGENITA
PEELING SKIN SYNDROME, TYPE B
PSS
PSS type B
Generalized peeling skin syndrome type B
Inflammatory peeling skin syndrome
Generalized deciduous skin type B
Number of Symptoms 11
OrphanetNr: 263553
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: Generalized peeling skin syndrome
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0004322) Short stature 1232 / 7739
2
 (HPO:0000989) Pruritus 111 / 7739
3
 (HPO:0002099) Asthma 62 / 7739
4
 (OMIM) Low plasma tryptophan (inflammatory type B) 2 / 7739
5
 (OMIM) Cleavage at junction of stratum corneum and stratum granulosum 2 / 7739
6
 (OMIM) Oncholysis, distal 2 / 7739
7
 (OMIM) Fragile hair 5 / 7739
8
 (OMIM) Vesicular lesions (inflammatory type B) 2 / 7739
9
 (OMIM) Elevated levels of serum IgE 2 / 7739
10
 (OMIM) Generalized erythema (inflammatory type B) 2 / 7739
11
 (OMIM) Superficial generalized lifelong skin peeling (sparing palms and soles) 2 / 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 ...