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peeling skin syndrome

Disease Summary
Associated Targets (13)
Tbio

12

Tchem

1


GARD Rare
Mondo Description Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.
Disease Ontology Description A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene.
Mondo Term and Equivalent IDs
MONDO:0019347:  peeling skin syndrome
GARD:0007347: 
OMIMPS:270300: 
Orphanet:817: 
SCTID:239065004: