IllnessEpidermolysis bullosa simplex, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Epidermolysis bullosa simplex comprising 11 guideline-curated genes and altogether 16 curated genes according to the clinical signs

EP0274

Number of genes

12 Accredited laboratory test

Examined sequence length

57,9 kb (Core-/Core-canditate-Genes)
66,7 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CD151	762	602243	NM_001039490.2	AR
DSP	8616	125647	NM_004415.4	AR
DST	17028	113810	NM_001723.7	AR
EXPH5	5970	612878	NM_015065.3	AR
JUP	2238	173325	NM_002230.4	AR
KLHL24	1975	611295	NM_017644.3	AD
KRT14	1419	148066	NM_000526.5	AD, AR
KRT5	1773	148040	NM_000424.4	AD, AR
PKP1	2181	601975	NM_001005337.3	AR
PLEC	13725	601282	NM_000445.5	AR, AD
TGM5	2163	603805	NM_201631.4	AR
COL7A1	8835	120120	NM_000094.4	AD, AR

Informations about the disease

Clinical Comment

Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type is a generalized basal subtype of epidermolysis bullosa simplex with non-herpetiform blisters + erosions arising in particular at sites of friction

Synonyms

Allelic: Amelogenesis imperfecta, type IA (LAMB3)
Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
Allelic: Blood group, Raph (CD151)
Allelic: Dermatopathia pigmentosa reticularis (KRT14)
Allelic: Laryngoonychocutaneous syndrome (LAMA3)
Allelic: Muscular dystrophy, limb-girdle, AR 17 (PLEC)
Allelic: Neuropathy, hereditary sensory + autonomic, type VI (DST)
Allelic: Toenail dystrophy, isolated (COL7A1)
Allelic: Transient bullous of the newborn (COL7A1)
Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
Dilated cardiomyopathy with woolly hair, keratoderma, tooth agenesis (DSP)
Ectodermal dysplasia/skin fragility syndrome (PKP1)
Epidermolysis bullosa dystrophica inversa (COL7A1)
Epidermolysis bullosa dystrophica, AD (COL7A1)
Epidermolysis bullosa dystrophica, AR (COL7A1)
Epidermolysis bullosa dystrophica, Bart type (COL7A1)
Epidermolysis bullosa dystrophica, localisata variant (COL7A1)
Epidermolysis bullosa pruriginosa (COL7A1)
Epidermolysis bullosa simplex (EXPH5)
Epidermolysis bullosa simplex with mottled pigmentation (KRT5)
Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
Epidermolysis bullosa simplex with nail dystrophy (PLEC)
Epidermolysis bullosa simplex with pyloric atresia (PLEC)
Epidermolysis bullosa simplex, 1, AR (KRT14)
Epidermolysis bullosa simplex, AR 2 (DST)
Epidermolysis bullosa simplex, Dowling-Meara type (KRT14, KRT5)
Epidermolysis bullosa simplex, Koebner type (KRT14, KRT5)
Epidermolysis bullosa simplex, Ogna type (PLEC)
Epidermolysis bullosa simplex, Weber-Cockayne type (KRT14, KRT5)
Epidermolysis bullosa simplex, generalized, with scarring + hair loss (KLHL24)
Epidermolysis bullosa, generalized atrophic benign (LAMA3)
Epidermolysis bullosa, junctional, Herlitz type (LAMA3, LAMB3, LAMC2)
Epidermolysis bullosa, junctional, localisata variant (COL17A1)
Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1, LAMB3, LAMC2)
Epidermolysis bullosa, lethal acantholytic (DSP)
Epidermolysis bullosa, nonspecific, AR (EXPH5)
Epidermolysis bullosa, pretibial (COL7A1)
Epithelial recurrent erosion dystrophy (COL17A1)
Keratosis palmoplantaris striata II (DSP)
Naegeli-Franceschetti-Jadassohn syndrome AD (KRT14)
Naxos diesease [Woolly hair, palmoplantar keratoderma, cardiac abnormalities] (JUP)
Nephropathy with pretibial epidermolysis bullosa + deafness (CD151)
Peeling skin syndrome 2 (TGM5)
Skin fragility-woolly hair syndrome (DSP)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined