Peeling Skin Syndrome 5

Alternative Names

  • PSS5
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

617115

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18q22.1

Description

Peeling Skin Syndrome 5 (PSS5) is a genodermatosis characterized by superficial, painless peeling of the skin. Affected areas include the dorsal and palmar surfaces of the hands and feet, as well as the fore-arms and legs. Peeling is usually seen to be exacerbated by external factors such as heat, humidity or friction. Other symptoms include underlying erythema and diffuse yellowish hyperkeratotic palmoplantar plaques. Skin biopsies may reveal acanthosis, hyperkeratosis, disadhesion of keratinocytes in basal and suprabasal layers of epidermis and widening of intercellular spaces.

The condition has an onset at around 3 to 6 months of age. While PSS is an uncommon disorder, with less than 100 cases reported worldwide, PSS5 is a rare subset of PSS, with only about 3 reported incidences. Diagnosis of PSS5 is based on clinical features and genetic analysis of the SERPINB8 gene. Treatment is limited to the use of emollient ointments to provide relief.

Molecular Genetics

PSS5 follows an autosomal recessive pattern of inheritance and is caused by mutations in the SERPINB8 gene. This gene encodes a high molecular weight serine protease inhibitor and its absence in keratinocytes has been shown to result in a cell-cell adhesion defect, which is heightened by mechanical stress. So far only 3 mutations in the SERPINB8 gene have been associated with PSS5.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617115.1.1TunisiaMaleYesYes Scaling skinNM_002640.4:c.947delHomozygousAutosomal, RecessivePigors et al. 2016
617115.1.2TunisiaFemaleYesYes Scaling skinNM_002640.4:c.947delHomozygousAutosomal, RecessivePigors et al. 2016 Sibling of 617115.1....
617115.2United Arab EmiratesFemale Scaling skinNM_002640.4:c.2T>CHomozygousAutosomal, RecessivePigors et al. 2016
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