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Peeling skin syndrome type A
Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin.
ORPHA:263548Classification level: Subtype of disorder
- Generalized deciduous skin type A
- Generalized peeling skin syndrome type A
- Non-inflammatory generalized peeling skin syndrome type A.
- Non-inflammatory peeling skin syndrome type A
- PSS type A
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q80.8
- OMIM: 616265 618084
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
The prevalence is unknown. The disease is rare with approximately 40 families reported in the literature to date
The disease manifests at birth or during infancy with generalized white scaling, most prominent over the upper and lower extremities, that is associated with painless and spontaneous peeling of the skin. Areas of hyperpigmentation can be observed. Direct contact with water, dust and sand may cause skin irritation. There is no history of erythema or atopy and patients are in good general health. Pruritus is rarely observed. Hair is normal.
A mutation in the CHST8 gene (19q13.1) encoding GalNAc4-ST1, a transmembrane sulfotransferase has been identified in one family. This mutation increases the degradation of GalNAc4-ST1 which seems to play an important role in epidermal homeostasis, thus leading to increased and continuous desquamation of the stratum corneum. It is not known if other genes can cause PSS type A and if the disease is genetically heterogeneous.
Diagnosis is based on clinical features. Histological examination of skin lesion biopsies reveals a slight hyperkeratosis, thinning of the granular layer and a separation of the stratum corneum from the underlying stratum granulosum or an intracorneal split. Molecular analysis, if performed, may reveal CHST8 mutations.
Differential diagnosis includes other forms of PSS and staphylococcal scalded skin syndrome (see these terms).
The disease is not severe enough to justify prenatal screening.
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.
Management and treatment
No effective treatment has been reported. Emollients are often used to reduce skin peeling.
Life expectancy is normal. No significant impairment in quality of life is reported.
- Practical genetics
- English (2013, pdf)