EBSSH
MCID: EPD067
MIFTS: 18

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

Categories: 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 58 76 30 6
Ebssh 58 76
Generalized Basal Epidermolysis Bullosa Simplex with Skin Atrophy, Scarring and Hair Loss 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epidermolysis bullosa simplex, generalized, with scarring and hair loss:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 617294
MeSH 45 D016110
Orphanet 60 ORPHA508529

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

UniProtKB/Swiss-Prot : 76 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

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 sparse body hair 33 HP:0002231
2 dystrophic toenail 33 HP:0001810
3 alopecia of scalp 33 HP:0002293
4 diffuse palmoplantar keratoderma 33 HP:0007435

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

42
Skin

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

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

# Title Authors Year
1
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. ( 27889062 )
2016
2
Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. ( 27798626 )
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 Variation Type Significance SNP ID Assembly Location
1 KLHL24 NM_017644.3(KLHL24): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs886037957 GRCh37 Chromosome 3, 183368147: 183368147
2 KLHL24 NM_017644.3(KLHL24): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs886037957 GRCh38 Chromosome 3, 183650359: 183650359
3 KLHL24 NM_017644.3(KLHL24): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs886037957 GRCh37 Chromosome 3, 183368147: 183368147
4 KLHL24 NM_017644.3(KLHL24): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs886037957 GRCh38 Chromosome 3, 183650359: 183650359
5 KLHL24 NM_017644.3(KLHL24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs886037956 GRCh37 Chromosome 3, 183368145: 183368145
6 KLHL24 NM_017644.3(KLHL24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs886037956 GRCh38 Chromosome 3, 183650357: 183650357
7 KLHL24 NM_017644.3(KLHL24): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs1057515580 GRCh37 Chromosome 3, 183368146: 183368146
8 KLHL24 NM_017644.3(KLHL24): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs1057515580 GRCh38 Chromosome 3, 183650358: 183650358

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...

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35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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