U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency(EBS3)

MedGen UID:
815800
•Concept ID:
C3809470
•
Disease or Syndrome
Synonyms: EBS3; Epidermolysis bullosa simplex due to BP230 deficiency; Epidermolysis bullosa simplex, autosomal recessive 2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): DST (6p12.1)
 
Monarch Initiative: MONDO:0014180
OMIM®: 615425
Orphanet: ORPHA412181

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Jodi Y So  |  Joyce Teng   view full author information

Additional description

From OMIM
Localized or generalized intermediate epidermolysis bullosa simplex-3 with BP230 deficiency (EBS3) is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).  http://www.omim.org/entry/615425

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
•Concept ID:
C0022596
•
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
See: Feature record | Search on this feature
Atrophic scars
MedGen UID:
57875
•Concept ID:
C0162154
•
Pathologic Function
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
See: Feature record | Search on this feature
Nail dystrophy
MedGen UID:
66368
•Concept ID:
C0221260
•
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
See: Feature record | Search on this feature
Dystrophic toenail
MedGen UID:
318813
•Concept ID:
C1833225
•
Finding
Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.
See: Feature record | Search on this feature
Abnormal blistering of the skin
MedGen UID:
412159
•Concept ID:
C2132198
•
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
See: Feature record | Search on this feature
Abnormal dermoepidermal hemidesmosome morphology
MedGen UID:
1686623
•Concept ID:
C5139350
•
Finding
An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

Professional guidelines

PubMed

Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
Krämer S, Lucas J, Gamboa F, Peñarrocha Diago M, Peñarrocha Oltra D, Guzmán-Letelier M, Paul S, Molina G, Sepúlveda L, Araya I, Soto R, Arriagada C, Lucky AW, Mellerio JE, Cornwall R, Alsayer F, Schilke R, Antal MA, Castrillón F, Paredes C, Serrano MC, Clark V
Spec Care Dentist 2020 Nov;40 Suppl 1(Suppl 1):3-81. doi: 10.1111/scd.12511. PMID: 33202040Free PMC Article

Recent clinical studies

Etiology

Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study.
Reimer-Taschenbrecker A, Hess M, Hotz A, Fischer J, Bruckner-Tuderman L, Has C
J Eur Acad Dermatol Venereol 2021 Oct;35(10):2097-2104. Epub 2021 May 31 doi: 10.1111/jdv.17336. PMID: 33960018
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M
Br J Dermatol 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. PMID: 21623745
Oral soft tissues in hereditary epidermolysis bullosa.
Wright JT, Fine JD, Johnson LB
Oral Surg Oral Med Oral Pathol 1991 Apr;71(4):440-6. doi: 10.1016/0030-4220(91)90426-d. PMID: 2052329

Diagnosis

A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.
Liu J, Wang L
Acta Dermatovenerol Croat 2021 Dec;29(3):164-166. PMID: 34990346
Locally advanced tongue squamous cell carcinoma in epidermolysis simplex bullosa patient: a therapeutic conundrum.
Al Shareef W, Sayed S, Kamel S, Alkaf H, Bahaj A, Amin R, Al Herabi A
Ann R Coll Surg Engl 2021 Mar;103(3):e85-e87. doi: 10.1308/rcsann.2020.7080. PMID: 33645266Free PMC Article
Epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities.
Kim DK, Kim SC, Chang SN, Kim SY
Yonsei Med J 2000 Jun;41(3):411-5. doi: 10.3349/ymj.2000.41.3.411. PMID: 10957900
Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome?
Jones EM, Hersh JH, Yusk JW
Pediatr Dermatol 1992 Sep;9(3):293-7. doi: 10.1111/j.1525-1470.1992.tb00351.x. PMID: 1488384
Very late antigen (VLA) expression in various forms of epidermolysis bullosa simplex.
Nazzaro V, Berti E, Cavalli R, Brusasco A, Caputo R
Arch Dermatol Res 1991;283(1):1-4. doi: 10.1007/BF01207240. PMID: 2059055

Therapy

Locally advanced tongue squamous cell carcinoma in epidermolysis simplex bullosa patient: a therapeutic conundrum.
Al Shareef W, Sayed S, Kamel S, Alkaf H, Bahaj A, Amin R, Al Herabi A
Ann R Coll Surg Engl 2021 Mar;103(3):e85-e87. doi: 10.1308/rcsann.2020.7080. PMID: 33645266Free PMC Article
An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy.
Cao T, Longley MA, Wang XJ, Roop DR
J Cell Biol 2001 Feb 5;152(3):651-6. doi: 10.1083/jcb.152.3.651. PMID: 11157990Free PMC Article
Transient intraepidermal bullous reaction after skin graft for toxic epidermal necrolysis. Ultrastructural and immunohistochemical features similar to those of inherited epidermolysis bullosa simplex.
Bourgault I, Prost C, André C, Villada G, Wechsler J, Chosidow O, Revuz J
Arch Dermatol 1991 Sep;127(9):1369-74. PMID: 1892406

Prognosis

Locally advanced tongue squamous cell carcinoma in epidermolysis simplex bullosa patient: a therapeutic conundrum.
Al Shareef W, Sayed S, Kamel S, Alkaf H, Bahaj A, Amin R, Al Herabi A
Ann R Coll Surg Engl 2021 Mar;103(3):e85-e87. doi: 10.1308/rcsann.2020.7080. PMID: 33645266Free PMC Article
Myasthenic syndrome caused by plectinopathy.
Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG
Neurology 2011 Jan 25;76(4):327-36. doi: 10.1212/WNL.0b013e31820882bd. PMID: 21263134Free PMC Article
Oral soft tissues in hereditary epidermolysis bullosa.
Wright JT, Fine JD, Johnson LB
Oral Surg Oral Med Oral Pathol 1991 Apr;71(4):440-6. doi: 10.1016/0030-4220(91)90426-d. PMID: 2052329

Clinical prediction guides

A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.
Liu J, Wang L
Acta Dermatovenerol Croat 2021 Dec;29(3):164-166. PMID: 34990346
Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study.
Reimer-Taschenbrecker A, Hess M, Hotz A, Fischer J, Bruckner-Tuderman L, Has C
J Eur Acad Dermatol Venereol 2021 Oct;35(10):2097-2104. Epub 2021 May 31 doi: 10.1111/jdv.17336. PMID: 33960018
Myasthenic syndrome caused by plectinopathy.
Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG
Neurology 2011 Jan 25;76(4):327-36. doi: 10.1212/WNL.0b013e31820882bd. PMID: 21263134Free PMC Article
Epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities.
Kim DK, Kim SC, Chang SN, Kim SY
Yonsei Med J 2000 Jun;41(3):411-5. doi: 10.3349/ymj.2000.41.3.411. PMID: 10957900
Oral soft tissues in hereditary epidermolysis bullosa.
Wright JT, Fine JD, Johnson LB
Oral Surg Oral Med Oral Pathol 1991 Apr;71(4):440-6. doi: 10.1016/0030-4220(91)90426-d. PMID: 2052329

Recent systematic reviews

Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
Krämer S, Lucas J, Gamboa F, Peñarrocha Diago M, Peñarrocha Oltra D, Guzmán-Letelier M, Paul S, Molina G, Sepúlveda L, Araya I, Soto R, Arriagada C, Lucky AW, Mellerio JE, Cornwall R, Alsayer F, Schilke R, Antal MA, Castrillón F, Paredes C, Serrano MC, Clark V
Spec Care Dentist 2020 Nov;40 Suppl 1(Suppl 1):3-81. doi: 10.1111/scd.12511. PMID: 33202040Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...