Peeling skin syndrome Q80.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 27.01.2022

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Synonym(s)

Acral peeling skin syndrome; Congenital ichthyosiform erythroderma; Continuous peeling skin syndrome; Exfoliative ichthyosis; exfoliative keratolysis congenita; Familial continual skin peeling; Idiopathic deciduous skin; Peeling skin disease; Peeling skin syndrome; PSD

Definition
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Group of rare, autosomal recessive inherited congenital ichthyosiform cornification disorders, which usually persist throughout life and are often associated with an allergic tendency and pruritus. In the affected persons the stratum corneum repeatedly detaches spontaneously and unevenly.

Classification
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5 clinical pictures are distinguished - Peeling Skin Syndrome A-E.

  • Peeling skin syndrome 1 (OMIM:616265): generalized, non-inflammatory clinical picture; development of symptoms only in the 4th-7th year of life. Genetic defect not yet confirmed (mutations in the CHST8 gene (19q13.11), which codes for the carbohydrate sulfotransferase 8, have been detected).
  • Peeling skin syndrome 2 (270300): generalized inflammatory (erythrodermic) clinical picture, development of symptoms immediately after birth. Mutation in the CDSN gene, which encodes corneodesmosin. By definition, peeling skin syndrome B is called "peeling skin disease ".
  • Peeling skin syndrome 3 (OMIM:270300): Acral peeling skin syndrome, with circumscribed keratolysis, also blistering on dorsum of hands and feet. It is caused by various mutations of the TGM5 gene. Mutations of the TGM5 gene which codes for transglutaminase 5. This clinical picture is now classified as subprabasal epidermolysis bullosa simplex (see below hereditary epidermolyses ).
  • Exfoliative ichthyosis:
    • Peeling skin syndromes 4 and 5 (PSSA4/5): Exfoliative ichthyosis with dry skin and an aqua-sensitive, macerative palmoplantar keratosis (phenomenon of "washerwoman's hands" on contact with water): Underlying mutations in the genes of cystatin A (CSTA) and serpin B8 (PSS5).

Etiopathogenesis
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In inflammatory peeling skin syndrome 2, various "loss of function" mutations of the corneodesmosin gene (CDSN) are detectable. This gene is located on chromosome 6p21. It codes for the protein corneodesmosin (CDSN). The autosomal recessively inherited mutation leads to the fact that this important adhesion protein is incompletely expressed in the complete body skin of an affected person or is completely absent. The consequences are barrier disorders of the skin with itching, urticaria, asthma and food allergies. At the same time: IgE increased, blood eosinophilia.

In the case of the late manifest (occurrence after the 1st year of life) non-inflammatory peeling skin syndrome 1, the genetic defect is not yet confirmed (CHST-8 gene = gene for the carbohydrate sulfotransferase 8). The affected persons show a strong tendency to painless superficial peeling of the skin on the entire skin. The associated symptoms as with type B are missing.

In Peeling Skin Syndrome 3, the acral peeling skin syndrome, the transformation of transglutaminase 5 leads to a circumscribed superficial keratolysis of the back of the hand and foot.

In Peeling Skin Syndrome 4 (PSS4; OMIM: 607936), an autosomal recessive genodermatosis, the skin lesions that appear shortly after birth resemble superficial epidermolytic ichthyosis. Clinically prominent are the aquasensitive palmoplantar keratoses. They are based on mutations in the cystatin A gene.

In Peeling Skin Syndrome 5 (PSS5) there are skin changes analogous to PSS4. Mutations in the Serpin B8 gene are present. The gene codes for the Serpin B8 protein. This protein plays an important role in the structure of the desmosomes and thus in cell-cell adhesion.

Clinical features
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In generalized types 1 (non-inflammatory late manifestations) and 2 (inflammatory, congenital) there are itching or burning, peripherally migrating erythema with Collerette-like scaling. The psoriatic border can easily be removed in a parchment-like manner.

Histology
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Peeling skin syndrome 2: psoriasiform epidermal reaction with hyperkeratosis, focal parakeratosis, sparse round cell infiltrates in the corium, separation of the stratum corneum above the epithelial layer. In some cases the stratum corneum is completely absent. Electron microscopy: Absence of normal keratohyalin.

Types 1 and 3 show only a detachment of the horny layer without inflammatory changes.

Differential diagnosis
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Clinical:

Histologically:

  • Psoriasis (with typical expression evidence of Munro microabscesses).

Note(s)
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Corneodesmosin (see below CDSN gene) is an important binding molecule of the epidermis that binds corneocytes together and builds up molecular junctions of the horny layer(corneodesmosomes). This results in barrier disorders of the skin. This makes it easier for pathogens or allergens to penetrate the skin.

Literature
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  1. Benchat L et al (2014) Acral peeling skin syndrome]. Ann Dermatol Venereol 141:316-318.
  2. Hashimoto K et al (2000) Acral peeling skin syndrome. J Am Acad Dermatol 43: 1112-1119.
  3. Kawakami H et al. (2014) A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a
  4. Homozygous Missense Mutation of CDSN. Case Rep Dermatol 6:232-238
  5. Meovrah B et al (1987) Peeling skin syndrome: aclinical, ultrastructural and biochemical study. Br J Dermatol 116: 117-125.
  6. Oji V et al (2010) Loss of corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease. AJHG 87: 274-281
  7. Valentin Fet al (2021) Development of a pathogenesis-based therapy for peeling skin syndrome type 1. Br J Dermatol 84: 1123-1131.
  8. van der Velden JJAJ et al (2020) Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. J Dermatol 47:3-7.
  9. Vincent O et al (2010) Peeling skin disease: elucidation of a rare genetic keratinization disorder. JDDG 8: 941

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Last updated on: 27.01.2022