Peeling Skin Syndrome 1; Pss1

Description

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). Genetic Heterogeneity of Peeling Skin SyndromePeeling skin syndrome-2 (PSS2 ), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (OMIM ) on chromosome 15q15. Peeling skin syndrome-3 (PSS3 ) is caused by mutation in the CHST8 gene (OMIM ) on chromosome 19q13. Peeling skin syndrome-4 (PSS4 ) is caused by mutation in the CSTA gene (OMIM ) on chromosome 3q21. Peeling skin syndrome-5 (PSS5 ) is caused by mutation in the SERPINB8 gene (OMIM ) on chromosome 18q22. PSS6 (OMIM ) is caused by mutation in the FLG2 gene (OMIM ) on chromosome 1q21.

Clinical Features

Top most frequent phenotypes and symptoms related to Peeling Skin Syndrome 1; Pss1

  • Short stature
  • Edema
  • Abnormality of metabolism/homeostasis
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Skin rash
  • Pruritus
  • Ichthyosis
  • Palmoplantar keratoderma

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Peeling Skin Syndrome 1; Pss1 Is also known as pss, keratolysis exfoliativa congenita, deciduous skin, skin peeling, familial continuous generalized.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Peeling Skin Syndrome 1; Pss1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EBSeq Epidermolysis Bullosa Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
CDSN Gene Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CDSN
Specificity
100 %
Genes
100 %
CDSN Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CDSN
Specificity
100 %
Genes
100 %
EB (Epidermolysis Bullosa) Deletion/Duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC
Specificity
5 %
Genes
100 %
CDSN.

By Institute for Human Genetics University Clinic Freiburg (Germany).

CDSN
Specificity
100 %
Genes
100 %
Generalized peeling skin syndrome type B (sequence analysis of CDSN gene).

By CGC Genetics (Portugal).

CDSN
Specificity
100 %
Genes
100 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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