Peeling skin syndrome 1

Preferred Label : Peeling skin syndrome 1;

Symbol : PSS1;

CISMeF acronym : PSS; PSS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PSS; Keratolysis exfoliativa congenita; Skin peeling, familial continuous generalized; Deciduous skin;

Description : 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 unusual autosomal recessive ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). - Heterogeneity The noninflammatory 'type A' form of peeling skin syndrome, the so-called acral type in which skin peeling is limited to the dorsa of the hands and feet (609796), is caused by mutation in the TGM5 gene (603805).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the corneodesmosin gene (CDSN, 602593.0003);

Laboratory abnormalities : Low plasma tryptophan (inflammatory type B);

Prefixed ID : #270300;

Details

Origin ID

270300;

UMLS CUI

C1849193;

Automatic exact mappings (from CISMeF team)
- Acral peeling skin syndrome (disorder) [SNOMED CT concept]
- CARD14 wt Allele [NCIt concept]
- Portal systemic shunt [MedDRA LLT]
- Potocki-Shaffer syndrome [DO Concept]
- Proportionate short stature (disorder) [SNOMED CT concept]
- peeling skin syndrome, acral type [MeSH concept]
- peeling skin syndrome, acral type [MeSH Supplementary Concept]
- phosphatidylserine synthase 1 [ORDO Gene]
- phosphatidylserine synthase 1 [HGNC gene]
- porcine stress syndrome [SNOMED Notion]
- systemic scleroderma [DO Concept]
Currated CISMeF NLP mapping
- Hereditary skin peeling syndrome (disorder) [SNOMED CT concept]
- Peeling skin syndrome [PASCAL descriptor]
- Peeling skin syndrome [ORDO Disease]
- peeling skin syndrome [DO Concept]
- peeling skin syndrome [MeSH concept]
- peeling skin syndrome [MeSH Supplementary Concept]
DO Cross reference
- peeling skin syndrome [DO Concept]
False automatic mappings
- Perceived Stress Scale [NCIt concept]
- State of Palestine [NCIt concept]
- parasitology [MeSH Descriptor]
Genes related to phenotype
- Corneodesmosin [OMIM gene]
HPO term(s)
- Abnormality of hair texture [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Congenital onset [HPO term]
- Erythema [HPO term]
- Histological abnormality of the skin [HPO term]
- Increased circulating IgE level [HPO term]
- Onycholysis [HPO term]
- Pruritus [HPO term]
- Scaling skin [HPO term]
- Short stature [HPO term]
Matching ORDO disease(s)
- Peeling skin syndrome [ORDO Disease]
ORDO concept(s)
- Generalized peeling skin syndrome [ORDO Disease]
- Peeling skin syndrome type B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary skin peeling syndrome (disorder) [SNOMED CT concept]
- Peeling skin syndrome [ORDO Disease]
- Peeling skin syndrome [PASCAL descriptor]
- peeling skin syndrome [MeSH concept]
- peeling skin syndrome [MeSH Supplementary Concept]
- peeling skin syndrome [DO Concept]
Validated automatic mappings to BTNT
- Generalized peeling skin syndrome [ORDO Disease]
- Generalized peeling skin syndrome (disorder) [SNOMED CT concept]
- Peeling skin syndrome type B [ORDO Disease]

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