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Dominant dystrophic epidermolysis bullosa with absence of skin

MedGen UID:
82797
Concept ID:
C0268371
Congenital Abnormality
Synonyms: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE; EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
SNOMED CT: Dominant dystrophic epidermolysis bullosa with absence of skin (2689001); Epidermolysis bullosa dystrophica, Bart type (2689001)
 
Gene (location): COL7A1 (3p21.31)
 
Monarch Initiative: MONDO:0007557
OMIM®: 132000

Disease characteristics

Excerpted from the GeneReview: Dystrophic Epidermolysis Bullosa
Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB. [from GeneReviews]
Authors:
Ellen G Pfendner  |  Anne W Lucky   view full author information

Clinical features

From HPO
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.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.
Oral mucosal blisters
MedGen UID:
208888
Concept ID:
C0853945
Sign or Symptom
Blisters arising in the mouth.
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.
Congenital localized absence of skin
MedGen UID:
388677
Concept ID:
C2673597
Finding
Sub-lamina densa cleavage
MedGen UID:
1778332
Concept ID:
C5539822
Finding
A type of blistering in which the cleavage plane of blisters is located below the lamina densa.

Professional guidelines

PubMed

Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE
Clin Genet 2021 Jan;99(1):29-41. Epub 2020 Jun 29 doi: 10.1111/cge.13792. PMID: 32506467
van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF
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Shimizu H, Suzumori K, Nishikawa T
Dermatology 1996;192(3):203-7. doi: 10.1159/000246366. PMID: 8726631

Recent clinical studies

Etiology

Liemberger B, Bischof J, Ablinger M, Hainzl S, Murauer EM, Lackner N, Ebner P, Kocher T, Nyström A, Wally V, Mayr E, Guttmann-Gruber C, Hofbauer JP, Bauer JW, Koller U
Int J Mol Sci 2023 Feb 22;24(5) doi: 10.3390/ijms24054341. PMID: 36901775Free PMC Article
Wang X, Alshehri F, Manzanares D, Li Y, He Z, Qiu B, Zeng M, A S, Lara-Sáez I, Wang W
Int J Mol Sci 2021 Nov 26;22(23) doi: 10.3390/ijms222312774. PMID: 34884578Free PMC Article
Sawka E, Funk T
Pediatr Dermatol 2021 Sep;38(5):1251-1254. Epub 2021 Aug 2 doi: 10.1111/pde.14727. PMID: 34338359
Boria F, Maseda R, Martín-Cameán M, De la Calle M, de Lucas R
Actas Dermosifiliogr (Engl Ed) 2019 Jan-Feb;110(1):50-52. Epub 2017 Dec 6 doi: 10.1016/j.ad.2017.06.024. PMID: 29203033
Hanna W, Silverman E, Boxall L, Krafchik BR
Ultrastruct Pathol 1983 Jul;5(1):29-36. doi: 10.3109/01913128309141816. PMID: 6649087

Diagnosis

Ramos FJM, Corpas TD, Corrales AE, Puchades AM
An Pediatr (Engl Ed) 2023 Dec;99(6):447-448. Epub 2023 Aug 17 doi: 10.1016/j.anpede.2023.04.016. PMID: 37598075
Di Zenzo G, Floriddia G, Rossi S, Mariotti F, Primerano A, Condorelli AG, Didona B, Castiglia D
Front Immunol 2022;13:929286. Epub 2022 Jul 29 doi: 10.3389/fimmu.2022.929286. PMID: 35967298Free PMC Article
Sawka E, Funk T
Pediatr Dermatol 2021 Sep;38(5):1251-1254. Epub 2021 Aug 2 doi: 10.1111/pde.14727. PMID: 34338359
Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E
Pediatr Dermatol 2020 Sep;37(5):821-826. Epub 2020 Jul 20 doi: 10.1111/pde.14245. PMID: 32686866
Cambiaghi S, Brusasco A, Restano L, Cavalli R, Tadini G
Dermatology 1997;195(1):65-8. doi: 10.1159/000245691. PMID: 9267744

Therapy

Wang X, Alshehri F, Manzanares D, Li Y, He Z, Qiu B, Zeng M, A S, Lara-Sáez I, Wang W
Int J Mol Sci 2021 Nov 26;22(23) doi: 10.3390/ijms222312774. PMID: 34884578Free PMC Article
Titeux M, Turczynski S, Pironon N, Hovnanian A
Methods Mol Biol 2018;1828:531-552. doi: 10.1007/978-1-4939-8651-4_35. PMID: 30171566
Chen Z, Bu W, Feng S, Wang H
J Dermatol 2018 Aug;45(8):1000-1002. Epub 2018 May 3 doi: 10.1111/1346-8138.14352. PMID: 29722429
Turczynski S, Titeux M, Pironon N, Hovnanian A
Methods Mol Biol 2012;867:221-38. doi: 10.1007/978-1-61779-767-5_15. PMID: 22454065
Van Der Wal VB, Van Voorst Vader PC, Mandema JM, Jonkman MF
Br J Dermatol 1999 Nov;141(5):918-21. doi: 10.1046/j.1365-2133.1999.03170.x. PMID: 10583180

Prognosis

Di Zenzo G, Floriddia G, Rossi S, Mariotti F, Primerano A, Condorelli AG, Didona B, Castiglia D
Front Immunol 2022;13:929286. Epub 2022 Jul 29 doi: 10.3389/fimmu.2022.929286. PMID: 35967298Free PMC Article
Chacón-Solano E, León C, Carretero M, García M, Sánchez-Domínguez R, Quero F, Méndez-Jiménez E, Bonafont J, Ruiz-Mezcua B, Escámez MJ, Larcher F, Del Río M
Matrix Biol 2022 Aug;111:189-206. Epub 2022 Jun 30 doi: 10.1016/j.matbio.2022.06.007. PMID: 35779740
Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E
Pediatr Dermatol 2020 Sep;37(5):821-826. Epub 2020 Jul 20 doi: 10.1111/pde.14245. PMID: 32686866
van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF
J Dermatol Sci 2009 Oct;56(1):9-18. Epub 2009 Aug 8 doi: 10.1016/j.jdermsci.2009.06.015. PMID: 19665875
Hanna W, Silverman E, Boxall L, Krafchik BR
Ultrastruct Pathol 1983 Jul;5(1):29-36. doi: 10.3109/01913128309141816. PMID: 6649087

Clinical prediction guides

Chacón-Solano E, León C, Carretero M, García M, Sánchez-Domínguez R, Quero F, Méndez-Jiménez E, Bonafont J, Ruiz-Mezcua B, Escámez MJ, Larcher F, Del Río M
Matrix Biol 2022 Aug;111:189-206. Epub 2022 Jun 30 doi: 10.1016/j.matbio.2022.06.007. PMID: 35779740
Liu J, Wang L
Acta Dermatovenerol Croat 2021 Dec;29(3):164-166. PMID: 34990346
van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF
J Dermatol Sci 2009 Oct;56(1):9-18. Epub 2009 Aug 8 doi: 10.1016/j.jdermsci.2009.06.015. PMID: 19665875
Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y
Am J Hum Genet 1997 Sep;61(3):599-610. doi: 10.1086/515495. PMID: 9326325Free PMC Article
Briggaman RA, Wheeler CE Jr
J Invest Dermatol 1975 Aug;65(2):203-11. doi: 10.1111/1523-1747.ep12598208. PMID: 1151111

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