| Symbol
| PSS
|
| Location
| 6p21.33
|
| Name
|
peeling skin syndrome, generalized |
| Corresponding gene
|
CDSN
|
| Main clinical features
|
with pruritus and atopic diseases, is an unusual ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with an onset at birth or shortly thereafter |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| dermatology |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| nonsense
|
| abnormal protein/loss of function
|
| |
| Remark(s)
|
. nonsense mutation, which leads to the complete loss of corneodesmosin, causes peeling skin disease and absence of corneodesmosin may give rise to a strong predisposition to atopic manifestations (Oji 2010) |