Peeling Skin Syndrome

A rare, hereditary, autosomal recessive genodermatosis with onset from birth to adulthood. Clinically, it is characterized by spontaneous superficial peeling of the skin with or without PRURITIS, 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. Histologically, it is characterized by separation of the EPIDERMIS between the statum corneum and the stratum granulosum. Mutations in the CDSN gene have been identified. OMIM: 270300

Also Known As:

Networked: 15 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Netherton Syndrome
2.	Prolidase Deficiency
3.	Wasting Syndrome (Wasting Disease)
4.	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
5.	Wiskott-Aldrich Syndrome

Experts

1.	Suga, Yasushi: 3 articles (01/2020 - 06/2006)
2.	Ikeda, Shigaku: 2 articles (10/2006 - 06/2006)
3.	Komatsu, Nahoko: 2 articles (10/2006 - 06/2006)
4.	Mizuno, Yuki: 2 articles (10/2006 - 06/2006)
5.	Alexis, Barranca: 1 article (01/2022)
6.	Audrey, Martin-Blondel: 1 article (01/2022)
7.	Juliette, Mazereeuw-Hautier: 1 article (01/2022)
8.	Nathalie, Jonca: 1 article (01/2022)
9.	Pol-André, Apoil: 1 article (01/2022)
10.	Dathe, M: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Peeling Skin Syndrome:

1.	GlycosyltransferasesIBA 01/01/2017 - "A recent whole-exome sequencing study identifies (c.229 C > T) in the GalNAc-4-ST1 glycosyltransferase (CHST8) as a disease-causing missense R77W mutation yielding the genodermatosis peeling skin syndrome (PSS) when homozygous. "
2.	Immunoglobulin E (IgE)IBA 03/01/2016 - "The association of moderate to severe eczema and elevated plasma levels of immunoglobulin E is a characteristic not only of atopic dermatitis but also of various genodermatoses: hyperimmunoglobulin E syndromes, Omenn syndrome, Netherton syndrome, peeling skin syndrome type B, severe dermatitis, multiple allergies, and metabolic wasting syndrome, Wiskott-Aldrich syndrome, prolidase deficiency, Loeys-Dietz syndrome, IPEX syndrome, STAT5B deficiency, and pentasomy X. The clinical presentation of these genodermatoses -typically in children- is consistent with severe atopic dermatitis. " 09/09/2022 - "Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, STAT5B deficiency, Omenn syndrome, atypical complete DiGeorge syndrome; metabolic disorders such as acrodermatitis enteropathy, multiple carboxylase deficiency, prolidase deficiency; and other rare syndromes like severe dermatitis, multiple allergies and metabolic wasting syndrome, Netherton syndrome, and peeling skin syndrome frequently perform with eczema-like lesions. " 11/01/2022 - "Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies." 01/01/2022 - "Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies."
3.	Proteins (Proteins, Gene)FDA Link 12/01/2013 - "Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B." 01/01/2020 - "Epidermal samples from patients with Netherton syndrome and peeling skin syndrome exhibited elevated levels of NRF2 and also elevated levels of its downstream target, small proline-rich protein 2. Taken together, these results suggest that the thiol-mediated biochemical responses in the stratum granulosum provide a critical link between defective epidermal barrier function and the development of atopy. "
4.	dupilumabIBA 11/01/2022 - "Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies." 01/01/2022 - "Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies."
5.	Tissue Kallikreins (Tissue Kallikrein)IBA 10/01/2006 - "Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes."
6.	Nonsense Codon (Nonsense Mutation)IBA 12/01/2013 - "Peeling skin disease (PSD), a generalized inflammatory form of peeling skin syndrome, is caused by autosomal recessive nonsense mutations in the corneodesmosin gene (CDSN). "
7.	AcitretinFDA Link 02/01/1996 - "Low-dose acitretin therapy induced areas of peeling skin, similar to that seen in the peeling skin syndrome. "
8.	SulfotransferasesIBA 01/01/2017 - "The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim."
9.	Sulfhydryl Compounds (Thiols)IBA 01/01/2020 - "Epidermal samples from patients with Netherton syndrome and peeling skin syndrome exhibited elevated levels of NRF2 and also elevated levels of its downstream target, small proline-rich protein 2. Taken together, these results suggest that the thiol-mediated biochemical responses in the stratum granulosum provide a critical link between defective epidermal barrier function and the development of atopy. "
10.	Proline (L-Proline)FDA Link 01/01/2020 - "Epidermal samples from patients with Netherton syndrome and peeling skin syndrome exhibited elevated levels of NRF2 and also elevated levels of its downstream target, small proline-rich protein 2. Taken together, these results suggest that the thiol-mediated biochemical responses in the stratum granulosum provide a critical link between defective epidermal barrier function and the development of atopy. "

Therapies and Procedures

1.	Therapeutics 01/01/2021 - "Development of a pathogenesis-based therapy for peeling skin syndrome type 1." 02/01/1996 - "Low-dose acitretin therapy induced areas of peeling skin, similar to that seen in the peeling skin syndrome. "