IllnessPeeling-skin syndrome, differential diagnosis

Summary

Short information

A curated panel containing 5 core candidate genes and altogether 7 genes for the comprehensive analysis of the suspected Peeling-skin syndrome

PP9938

Number of genes

5 Accredited laboratory test

Examined sequence length

7,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CAST	2253	114090	NM_001042440.5	AR
CDSN	1590	602593	NM_001264.5	AR
CSTA	297	184600	NM_005213.4	AR
SERPINB8	1202	601697	NM_001031848.2	AR
TGM5	2163	603805	NM_201631.4	AR

Informations about the disease

Clinical Comment

Group of rare AR ichthyoses, superficial, asymptomatic, spontaneous peeling; histologically shedding of outer epidermis layers; acral or generalized distribution (non-) inflammatory; additional subtypes?

Synonyms

Alias. Peeling skin disease
Alias: Deciduous skin
Alias: Familial continuous skin peeling syndrome
Alias: Idiopathic deciduous skin
Alias: Keratosis exfoliativa congenita
Alias: Peeling skin
Allelic: Hypotrichosis 2 (CDSN)
Peeling skin syndrome 1 (CDSN)
Peeling skin syndrome 2 (TGM5)
Peeling skin syndrome 3 (CHST8)
Peeling skin syndrome 4 (CSTA)
Peeling skin syndrome 5 (SERPINB8)
Peeling skin syndrome 6 (FLG2)
Peeling skin with leukonychia, acral punctate keratoses, cheilitis + knuckle pads (CAST)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined