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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).
 
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]
Authors:
Jodi Y So  |  Joyce Teng   view full author information

Additional description

From OMIM
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.
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.
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.
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.
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.
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.

Term Hierarchy

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

Professional guidelines

PubMed

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

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
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
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

Liu J, Wang L
Acta Dermatovenerol Croat 2021 Dec;29(3):164-166. PMID: 34990346
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
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
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
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

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
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
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

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
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
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

Liu J, Wang L
Acta Dermatovenerol Croat 2021 Dec;29(3):164-166. PMID: 34990346
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
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
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
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

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

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