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Peeling skin syndrome type B

ORPHA263553
Synonym(s) Generalized deciduous skin type B
Generalized peeling skin syndrome type B
Inflammatory peeling skin syndrome
PSS type B
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q80.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.

The prevalence is unknown; the disease is rare with approximately 30 families reported in the literature to date.

Skin anomalies manifest at birth or shortly thereafter. Patients show painless widespread, superficial asymptomatic and spontaneous peeling. Peeling of the skin consists of exfoliative white flakes of variable shape and size that evolves into mildly erythematous denuded areas with a peeling border. Palms and soles are spared or may show redness and mild skin thickening or hyperlinearity. Underlying erythroderma is present. Seasonal variations are generally observed. Pruritus is frequent and often severe, and is exacerbated with warm temperatures. In most cases, hair can be easily plucked (hair-anchoring deficiency). Mild to moderate nail changes are sometimes reported (koilonychia, onycholysis, thickness, yellowish appearance). Atopic manifestations are frequent (e.g. food allergies, episodes of angioedema, urticaria and asthma) and Staphylococcus aureus skin infections are reported. Patients are usually in good general health but may present with mild failure to thrive.

Mutations have been reported in the CDSN gene (6p21.3) encoding corneodesmosin, an adhesive protein specific to corneodesmosomes, the structures responsible for maintaining stratum corneum integrity. Most of these mutations (single nucleotide substitutions or deletions) result in total absence of the mutated protein in the epidermis which leads to impaired cell-cell adhesion, detachment of the epidermal corneal layers and disruption of the epidermal barrier that leads to increased penetration of allergens into the epidermis and an abnormal inflammatory response.

Clinical presentation is highly suggestive of the disease. Total IgE levels can be markedly elevated. Histological examination of skin lesion biopsies reveals acanthosis, hyperkeratosis, parakeratosis and extensive detachment of the stratum corneum from the subjacent stratum granulosum. A moderate mononuclear infiltrate can be seen in the superficial dermis. Immunohistochemistry is a rapid and easy diagnostic test that shows an absence of corneodesmosin. Molecular analysis, if available, confirms the diagnosis and reveals CDSN mutations.

Differential diagnosis includes other forms of PSS (acral peeling skin syndrome, peeling skin syndrome type A), epidermolytic ichthyosis, autosomal recessive congenital ichthyosis, staphylococcal scalded skin syndrome, Netherton syndrome, pemphigus foliaceus (see these terms), atopic dermatitis and peeling skin induced by retinoid therapy.

Genetic prenatal diagnosis is available for inherited ichthyoses and can be proposed for PSD because of the potential severity of the disease.

Transmission is autosomal recessive. Genetic counseling should be offered to affected families informing them of the risk of 25% for a healthy carrier parent to have an affected child.

No effective treatment has been reported, especially for pruritus. Emollients are often used to reduce skin peeling. Topical and oral steroids, retinoids, methotrexate and UVB phototherapy have been tested but without any success. Antibiotic therapy is required to treat secondary infection.

The severity of PSD is variable. Life expectancy is normal but the disease may severely impair the quality of life because of pruritus, lack of effective treatment and complications due to associated manifestations.

Expert reviewer(s)

  • Dr Nathalie JONCA
  • Pr Juliette MAZEREEUW-HAUTIER

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Detailed information

Practical genetics
  • EN (2013,pdf)
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