EBSSH
MCID: EPD067
MIFTS: 20

Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss (EBSSH)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss:

Name: Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 57 72 29 6
Ebssh 57 72
Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy 58
Intermediate Ebs with Cardiomyopathy 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
neonatal death can occur from extensive skin denudation and secondary infection
skin fragility improves with age


HPO:

31
epidermolysis bullosa simplex, generalized, with scarring and hair loss:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 617294
MeSH 44 D016110
Orphanet 58 ORPHA508529

Summaries for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

UniProtKB/Swiss-Prot : 72 Epidermolysis bullosa simplex, generalized, with scarring and hair loss: A form of epidermolysis bullosa, a group of mechano-bullous disorders characterized by structural skin fragility, recurrent blister formation and erosion of the skin and mucous membranes occurring spontaneously or after mild trauma. Epidermolysis bullosa simplex is characterized by intraepidermal tissue separation that occurs within the basal keratinocytes at the bottom layer of epidermis. EBSSH is an autosomal dominant epidermolysis bullosa simplex, presenting at birth with extensive skin defects on the extremities, leaving behind hypopigmentation and atrophy with a whirled pattern. Cutaneous fragility and generalized blistering persist during childhood and decrease in adulthood. Adult patients have dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes.

MalaCards based summary : Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss, is also known as ebssh. An important gene associated with Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss is KLHL24 (Kelch Like Family Member 24). Affiliated tissues include skin, and related phenotypes are sparse body hair and dystrophic toenail

More information from OMIM: 617294

Related Diseases for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

Human phenotypes related to Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss:

31
# Description HPO Frequency HPO Source Accession
1 sparse body hair 31 HP:0002231
2 dystrophic toenail 31 HP:0001810
3 alopecia of scalp 31 HP:0002293
4 diffuse palmoplantar keratoderma 31 HP:0007435

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Nails:
dystrophic toenails
fragile toenails
toenails thicken with age

Skin Nails Hair Skin:
areas of skin denudation at birth (limbs, abdomen)
blistering at sites of mechanical stress during childhood
mild generalized itching
skin defects heal with hypopigmentation and mild atrophy
hyperpigmented scarring (in some patients)
more
Skin Nails Hair Skin Electron Microscopy:
intraepidermal split above hemidesmosomes
basal keratinocyte disruption and cytolysis
disruption of intermediate filaments in basal keratinocytes
reduced density of intermediate filaments in basal keratinocytes

Head And Neck Mouth:
mild blistering of oral mucosa

Skin Nails Hair Skin Histology:
skin cleavage at basal keratinocytes
decreased amounts of keratins in basal keratinocytes

Skin Nails Hair Hair:
progressive diffuse alopecia of scalp
sparse body hair (in adulthood)
follicular atrophoderma (in adulthood)

Clinical features from OMIM®:

617294 (Updated 20-May-2021)

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss

Genetic Tests for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

Genetic tests related to Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 29 KLHL24

Anatomical Context for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss:

40
Skin

Publications for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

Articles related to Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss:

# Title Authors PMID Year
1
Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 57 6
27798626 2016
2
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. 57 6
27889062 2016

Variations for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KLHL24 NM_017644.3(KLHL24):c.3G>A (p.Met1Ile) SNV Pathogenic 264646 rs886037957 GRCh37: 3:183368147-183368147
GRCh38: 3:183650359-183650359
2 KLHL24 NM_017644.3(KLHL24):c.2T>C (p.Met1Thr) SNV Pathogenic 370042 rs1057515580 GRCh37: 3:183368146-183368146
GRCh38: 3:183650358-183650358
3 KLHL24 NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) SNV Pathogenic 264647 rs886037957 GRCh37: 3:183368147-183368147
GRCh38: 3:183650359-183650359
4 KLHL24 NM_017644.3(KLHL24):c.3G>C (p.Met1Ile) SNV Pathogenic 931095 GRCh37: 3:183368147-183368147
GRCh38: 3:183650359-183650359
5 KLHL24 NM_017644.3(KLHL24):c.1A>G (p.Met1Val) SNV Pathogenic 264648 rs886037956 GRCh37: 3:183368145-183368145
GRCh38: 3:183650357-183650357

Expression for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss.

Pathways for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

GO Terms for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

Sources for Epidermolysis Bullosa Simplex, Generalized, with Scarring and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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