Peeling skin syndrome
| Classification according to ICD-10 | |
|---|---|
| 80.8 | Other congenital ichthyosis |
| ICD-10 online (WHO version 2019) | |
The peeling skin syndrome (PSS) , from peeling "Peel" is a group of rare congenital to the ichthyosis associated with skin diseases with the main features of an autosomal - recessive inheritance and symptom-free spontaneous peeling of the skin .
Synonyms are: peeling skin; Familial Persistent Peeling Skin Syndrome; Skin peeling, idiopathic; Peeling skin disease; Shell skin syndrome; English Congenital ichthyosiform erythroderma; Acral peeling skin syndrome; Continual peeling skin syndrome; Familial continual skin peeling; Idiopathic deciduous skin; Keratolysis exfoliativa congenita ; Latin Keratosis exfoliativa congenita
distribution
The frequency is not known, the inheritance is done autosomal - recessive .
root cause
Depending on the underlying mutation , the following types can currently be distinguished; not all mutations are known yet:
- PSS1 , synonyms: PSS; Skin Peeling, Familial Continuous Generalized , mutations in CDSN - gene in chromosome 6 at locus p21.33 encoding corneodesmosin
- PSS2 , synonyms: acral PSS; APSS; Acral peeling skin syndrome , mutations in the TGM5 gene in chromosome 15 at q15,2 which the transglutaminase 5 encodes
- PSS3 , mutations in the CHST8 gene in chromosome 19 at q13.11, which codes for carbohydrate sulfotransferase
- PSS4 , synonyms: exfoliative ichthyosis ; Autosomal recessive exfoliative ichthyosis; AREI; Ichthyosis Bullosa of Siemens-Like , mutations in the CSTA gene in chromosome 3 at q21.1, which codes for the protease inhibitor cystatin A.
- PSS5 , mutations in the SERPINB8 gene on chromosome 18 at q22.1
Classification
According to clinical criteria, the following classification is common:
- Peeling Skin Syndrome A , generalized, non-inflammatory, late onset of age , only in the 4th-7th Year of life, genetic defect unknown. No associated symptoms
- Peeling Skin Syndrome B : corresponds to PSS1 , generalized inflammatory, manifestation immediately after birth. Itching, urticaria, asthma, and food allergies. Simultaneously: IgE increased, blood eosinophilia.
- Peeling Skin Syndrome C , corresponds to PSS2 , (acral form), circumscribed superficial keratolysis on the backs of the hands and feet
Clinical manifestations
Clinical criteria are:
- Different age of onset
- Spontaneous, painless, superficial detachment of the stratum corneum
- Often associated with itching and a tendency to allergies
Differential diagnosis
The following are to be distinguished:
- Netherton Syndrome
- Atopic eczema
- Scaly after previous inflammation
history
A case report was published by RM Stone as early as 1900.
Further reports come from 1921, 1924 and 1938.
literature
- AK Singhal, DK Yadav, B. Soni, S. Arya: A Case of Peeling Skin Syndrome. In: Indian dermatology online journal. Vol. 8, No. 3, 2017 May-Jun, pp. 208-210, doi : 10.4103 / idoj.IDOJ_118_16 , PMID 28584761 , PMC 5447344 (free full text).
- SJ Choe, BK Kim, S. Lee, H. Bak, JW Lee, SK Ahn: A Case of Late-Onset Peeling Skin Syndrome Likely Triggered by Irritation. In: Annals of dermatology. Vol. 29, No. 1, February 2017, pp. 119–120, doi: 10.5021 / ad.2017.29.1.119 , PMID 28223764 , PMC 5318512 (free full text).
- M. Bansal, S. Mahajan, S. Sankhwar, A. Bansal: Peeling skin syndrome. In: BMJ Case Reports. Vol. 2015, July 2015, S., doi: 10.1136 / bcr-2015-210902 , PMID 26150647 , PMC 4493181 (free full text).
Individual evidence
- ↑ a b c Peeling Skin Syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b c Encyclopedia Dermatology
- ^ Peeling skin syndrome 1. In: Online Mendelian Inheritance in Man . (English)
- ^ Peeling skin syndrome 2. In: Online Mendelian Inheritance in Man . (English)
- ^ Peeling skin syndrome 3rd In: Online Mendelian Inheritance in Man . (English)
- ^ Peeling skin syndrome 4th In: Online Mendelian Inheritance in Man . (English)
- ^ Peeling skin syndrome 5. In: Online Mendelian Inheritance in Man . (English)
- ↑ Manuela Pigors, Ofer Sarig, Lisa Heinz, Vincent Plagnol, Judith Fischer, Janan Mohamad, Natalia Malchin, Shefali Rajpopat, Monia Kharfi, Giles G. Lestringant, Eli Sprecher, David P. Kelsell, Diana C. Blaydon: Loss-of- Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. In: The American Journal of Human Genetics . Vol. 99, 2016, p. 430, doi : 10.1016 / j.ajhg.2016.06.004
- ↑ RM Stone: Keratolysis or "skin-shedding". In: Journal of the American Medical Association , 1900, Vol. 35, pp. 557-558.
- ^ H. Fox: Skin shedding (keratolysis exfoliativa congenita): report of a case. (Abstract) In: Archives of Dermatology and Syphilology , 1921, Vol. 3: p. 202.
- ↑ UJ WILC: Familial study of three unusual cases of congenital ichthyosiform erythroderma. In: Archives of Dermatology and Syphilology, 1924, Vol. 10, pp. 487-498.
- ↑ PE Bechet: Deciduous skin. In: Archives of Dermatology and Syphilology, 1938, Vol. 37, pp. 267-271.
