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PSS1
MCID: PLN017
MIFTS: 32
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Peeling Skin Syndrome 1 (PSS1)
Categories:
Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Peeling Skin Syndrome 1:
Characteristics:Orphanet epidemiological data:59
peeling skin syndrome type b
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth acral form of skin peeling limited to hands and feet two subtypes noninflammatory type a and inflammatory type b see also peeling skin syndrome, acral type HPO:32
peeling skin syndrome 1:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
ICD10:
34
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OMIM
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57
Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985).
Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013).
(270300)
MalaCards based summary : Peeling Skin Syndrome 1, also known as deciduous skin, is related to peeling skin syndrome and generalized peeling skin syndrome. An important gene associated with Peeling Skin Syndrome 1 is CDSN (Corneodesmosin), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin, and related phenotypes are short stature and abnormality of metabolism/homeostasis UniProtKB/Swiss-Prot : 75 Peeling skin syndrome 1: A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. Wikipedia : 76 Peeling skin syndrome (also known as "Acral peeling skin syndrome," "Continual peeling skin syndrome,"... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:270300Human phenotypes related to Peeling Skin Syndrome 1:32 (show all 10)
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Interventional clinical trials:
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MalaCards organs/tissues related to Peeling Skin Syndrome 1:41
Skin
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Articles related to Peeling Skin Syndrome 1:
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Genes related to Peeling Skin Syndrome 1 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Peeling Skin Syndrome 1:6 (show top 50) (show all 80)
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Search
GEO
for disease gene expression data for Peeling Skin Syndrome 1.
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Biological processes related to Peeling Skin Syndrome 1 according to GeneCards Suite gene sharing:
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