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Dystrophic epidermolysis bullosa

MedGen UID:
37179
Concept ID:
C0079294
Disease or Syndrome
Synonyms: Dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); Epidermolysis Bullosa Dystrophica; RDEB, severe generalized; RDEB-sev gen; Severe generalized recessive dystrophic epidermolysis bullosa
SNOMED CT: Dystrophic epidermolysis bullosa (254185007); DEB - Dystrophic epidermolysis bullosa (254185007); Epidermolysis bullosa dystrophica (254185007)
 
Gene (location): COL7A1 (3p21.31)
 
Orphanet: ORPHA303

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

Additional description

From MedlinePlus Genetics
Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. The signs and symptoms of dystrophic epidermolysis bullosa vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, scarring, and other serious medical problems.\n\nResearchers classify dystrophic epidermolysis bullosa into major types based on the inheritance pattern and features of the condition. Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene.\n\nRecessive dystrophic epidermolysis bullosa severe generalized (RDEB-sev gen) is the classic form of the condition and is the most severe. Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma that occurs during birth. Most often, blisters are present over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to chew and swallow food, leading to chronic malnutrition and slow growth. Additional complications of ongoing scarring can include fusion of the skin between the fingers and toes, loss of fingernails and toenails, joint deformities (contractures) that restrict movement, and eye inflammation leading to vision loss. Additionally, people with RDEB-sev gen have a very high risk of developing a form of skin cancer called squamous cell carcinoma in young adulthood. In these individuals, the cancer tends to be unusually aggressive and is often life-threatening.\n\nOther types of recessive dystrophic epidermolysis bullosa fall along a spectrum referred to as RDEB-generalized and localized (RDEB-gen and -loc). These forms of the condition are somewhat less severe than RDEB-sev gen and are distinguished by the affected regions of the body. Blistering is often limited to the hands, feet, knees, and elbows in mild cases, but may be widespread in more severe cases. Rare forms affect specific regions of the body, such as the shins or the abdomen. Affected people often have malformed fingernails and toenails. The RDEB-gen and -loc types involve scarring in the areas where blisters occur, but these forms of the condition do not cause the severe scarring characteristic of RDEB-sev gen.\n\nAnother major type of this condition is known as dominant dystrophic epidermolysis bullosa (DDEB). The signs and symptoms of this condition tend to be milder than those of the recessive forms, with blistering often limited to the hands, feet, knees, and elbows. The blisters heal with scarring, but it is less severe than in recessive forms of this condition. Most affected people have malformed fingernails and toenails, and the nails may be lost over time. In the mildest cases, abnormal nails are the only sign of the condition.  https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDystrophic epidermolysis bullosa

Suggested Reading

Recent clinical studies

Etiology

Tartaglia G, Cao Q, Padron ZM, South AP
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Filoni A, Cicco G, Lospalluti L, Maglietta A, Foti C, Annichiarico G, Resta L, Bonamonte D
J Eur Acad Dermatol Venereol 2020 Aug;34(8):1707-1714. Epub 2020 May 15 doi: 10.1111/jdv.16022. PMID: 31692111
Matsumura W, Fujita Y, Shinkuma S, Suzuki S, Yokoshiki S, Goto H, Hayashi H, Ono K, Inoie M, Takashima S, Nakayama C, Nomura T, Nakamura H, Abe R, Sato N, Shimizu H
J Invest Dermatol 2019 Oct;139(10):2115-2124.e11. Epub 2019 May 2 doi: 10.1016/j.jid.2019.03.1155. PMID: 31054844
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

Diagnosis

Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Tareen AS, Wolf S, Panezai MA, Thiele H, Wali A, Fölster-Holst R, Basit S, Ayub M, Betz RC
Acta Derm Venereol 2020 Sep 30;100(16):adv00275. doi: 10.2340/00015555-3634. PMID: 32926178
Inamadar AC
Dermatol Ther 2020 Nov;33(6):e14279. Epub 2020 Sep 15 doi: 10.1111/dth.14279. PMID: 32888385
Filoni A, Cicco G, Lospalluti L, Maglietta A, Foti C, Annichiarico G, Resta L, Bonamonte D
J Eur Acad Dermatol Venereol 2020 Aug;34(8):1707-1714. Epub 2020 May 15 doi: 10.1111/jdv.16022. PMID: 31692111
Yadav RS, Jayswal A, Shrestha S, Gupta SK, Paudel U
JNMA J Nepal Med Assoc 2018 Sep-Oct;56(213):879-882. PMID: 31065125
Yaşar Ş, Yaşar B, Cebeci F, Bayoğlu D, Nuhoğlu Ç
J Wound Care 2018 Nov 2;27(11):768-771. doi: 10.12968/jowc.2018.27.11.768. PMID: 30398936

Therapy

Inamadar AC
Dermatol Ther 2020 Nov;33(6):e14279. Epub 2020 Sep 15 doi: 10.1111/dth.14279. PMID: 32888385
Matsumura W, Fujita Y, Shinkuma S, Suzuki S, Yokoshiki S, Goto H, Hayashi H, Ono K, Inoie M, Takashima S, Nakayama C, Nomura T, Nakamura H, Abe R, Sato N, Shimizu H
J Invest Dermatol 2019 Oct;139(10):2115-2124.e11. Epub 2019 May 2 doi: 10.1016/j.jid.2019.03.1155. PMID: 31054844
Bonafont J, Mencía Á, García M, Torres R, Rodríguez S, Carretero M, Chacón-Solano E, Modamio-Høybjør S, Marinas L, León C, Escamez MJ, Hausser I, Del Río M, Murillas R, Larcher F
Mol Ther 2019 May 8;27(5):986-998. Epub 2019 Mar 15 doi: 10.1016/j.ymthe.2019.03.007. PMID: 30930113Free PMC Article
Ebens CL, McGrath JA, Tamai K, Hovnanian A, Wagner JE, Riddle MJ, Keene DR, DeFor TE, Tryon R, Chen M, Woodley DT, Hook K, Tolar J
Br J Dermatol 2019 Dec;181(6):1238-1246. Epub 2019 Jun 28 doi: 10.1111/bjd.17858. PMID: 30843184Free PMC Article
Yaşar Ş, Yaşar B, Cebeci F, Bayoğlu D, Nuhoğlu Ç
J Wound Care 2018 Nov 2;27(11):768-771. doi: 10.12968/jowc.2018.27.11.768. PMID: 30398936

Prognosis

Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Tareen AS, Wolf S, Panezai MA, Thiele H, Wali A, Fölster-Holst R, Basit S, Ayub M, Betz RC
Acta Derm Venereol 2020 Sep 30;100(16):adv00275. doi: 10.2340/00015555-3634. PMID: 32926178
Zhou X, Zhang Y, Zhao M, Jian Y, Huang J, Luo X, Yang J, Sun D
J Plast Surg Hand Surg 2020 Feb;54(1):33-39. Epub 2019 Sep 10 doi: 10.1080/2000656X.2019.1661846. PMID: 31502914
Saito A, Nakamura Y, Tanaka R, Inoue S, Okiyama N, Ishitsuka Y, Maruyama H, Watanabe R, Yoshida K, Ishiko A, Fujimoto M, Shinkuma S, Fujisawa Y
Acta Derm Venereol 2019 Nov 1;99(12):1166-1169. doi: 10.2340/00015555-3303. PMID: 31453627
Matsumura W, Fujita Y, Shinkuma S, Suzuki S, Yokoshiki S, Goto H, Hayashi H, Ono K, Inoie M, Takashima S, Nakayama C, Nomura T, Nakamura H, Abe R, Sato N, Shimizu H
J Invest Dermatol 2019 Oct;139(10):2115-2124.e11. Epub 2019 May 2 doi: 10.1016/j.jid.2019.03.1155. PMID: 31054844
Ebens CL, McGrath JA, Tamai K, Hovnanian A, Wagner JE, Riddle MJ, Keene DR, DeFor TE, Tryon R, Chen M, Woodley DT, Hook K, Tolar J
Br J Dermatol 2019 Dec;181(6):1238-1246. Epub 2019 Jun 28 doi: 10.1111/bjd.17858. PMID: 30843184Free PMC Article

Clinical prediction guides

Tang JY, Marinkovich MP, Lucas E, Gorell E, Chiou A, Lu Y, Gillon J, Patel D, Rudin D
Orphanet J Rare Dis 2021 Apr 13;16(1):175. doi: 10.1186/s13023-021-01811-7. PMID: 33849616Free PMC Article
Bishnoi P, Ng YZ, Wei H, Tan EC, Lunny DP, Wong XFCC, Kin Fon L, Gondokaryono SP, Diana IA, Common JEA, Koh MJA, Lane EB
Am J Med Genet A 2021 Feb;185(2):625-630. Epub 2020 Nov 30 doi: 10.1002/ajmg.a.61975. PMID: 33258232
Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Tareen AS, Wolf S, Panezai MA, Thiele H, Wali A, Fölster-Holst R, Basit S, Ayub M, Betz RC
Acta Derm Venereol 2020 Sep 30;100(16):adv00275. doi: 10.2340/00015555-3634. PMID: 32926178
Filoni A, Cicco G, Lospalluti L, Maglietta A, Foti C, Annichiarico G, Resta L, Bonamonte D
J Eur Acad Dermatol Venereol 2020 Aug;34(8):1707-1714. Epub 2020 May 15 doi: 10.1111/jdv.16022. PMID: 31692111
Matsumura W, Fujita Y, Shinkuma S, Suzuki S, Yokoshiki S, Goto H, Hayashi H, Ono K, Inoie M, Takashima S, Nakayama C, Nomura T, Nakamura H, Abe R, Sato N, Shimizu H
J Invest Dermatol 2019 Oct;139(10):2115-2124.e11. Epub 2019 May 2 doi: 10.1016/j.jid.2019.03.1155. PMID: 31054844

Recent systematic reviews

Tang JY, Marinkovich MP, Lucas E, Gorell E, Chiou A, Lu Y, Gillon J, Patel D, Rudin D
Orphanet J Rare Dis 2021 Apr 13;16(1):175. doi: 10.1186/s13023-021-01811-7. PMID: 33849616Free PMC Article
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 1:3-81. doi: 10.1111/scd.12511. PMID: 33202040Free PMC Article
Kim WB, Alavi A, Walsh S, Kim S, Pope E
Am J Clin Dermatol 2015 Apr;16(2):81-7. doi: 10.1007/s40257-015-0119-7. PMID: 25690953

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