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  • CN072571 has been replaced by C0432322, showing C0432322

Generalized dominant dystrophic epidermolysis bullosa(DDEB)

MedGen UID:
140935
Concept ID:
C0432322
Congenital Abnormality
Synonyms: DDEB; DDEB, generalized; DDEB-gen; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT; Epidermolysis bullosa dystrophica, autosomal dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Dominant dystrophic epidermolysis bullosa of Pasini (75875004); Albopapuloid dystrophic epidermolysis bullosa of Pasini (75875004); Dominant dystrophic epidermolysis bullosa, albopapular type (75875004); Epidermolysis bullosa dystrophica, Pasini type (75875004)
 
Gene (location): COL7A1 (3p21.31)
OMIM®: 131750
Orphanet: ORPHA231568

Definition

Dystrophic epidermolysis bullosa (DEB) comprises two types based on inheritance pattern: Recessive DEB, including severe generalized (RDEB-sev gen; formerly called Hallopeau-Siemens type [RDEB-HS]) and generalized other (RDEB-O; formerly called non-Hallopeau-Siemens type [RDEB-non-HS]). Dominant DEB (DDEB). In RDEB-sev gen, blisters 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, severe nutritional deficiency and secondary problems are common. 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, a hallmark of this disorder. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB-O may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the severe, mutilating scarring seen in RDEB-sev gen. 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 GTR]

Additional descriptions

From GeneReviews
Dystrophic epidermolysis bullosa (DEB) comprises two types based on inheritance pattern: Recessive DEB, including severe generalized (RDEB-sev gen; formerly called Hallopeau-Siemens type [RDEB-HS]) and generalized other (RDEB-O; formerly called non-Hallopeau-Siemens type [RDEB-non-HS]). Dominant DEB (DDEB). In RDEB-sev gen, blisters 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, severe nutritional deficiency and secondary problems are common. 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, a hallmark of this disorder. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB-O may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the severe, mutilating scarring seen in RDEB-sev gen. 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.  https://www.ncbi.nlm.nih.gov/books/NBK1304
From OMIM
Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. All forms are caused by mutation in the COL7A1 gene. Fine et al. (2000) proposed that the Cockayne-Touraine and Pasini subtypes of dystrophic epidermolysis bullosa be combined into 1 category known as 'dominant dystrophic epidermolysis bullosa' (DDEB), since both are caused by mutations in the COL7A1 gene and show overlapping clinical features. Epidermolysis bullosa simplex (see, e.g., 131800) and epidermolysis bullosa junctional (see, e.g., 226700) are clinically and genetically distinct disorders characterized by tissue separation at the levels of the basal keratinocyte layer and lamina lucida, respectively.  http://www.omim.org/entry/131750
From GHR
Epidermolysis bullosa is a group of genetic conditions that 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. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition 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, disfigurement, and other serious medical problems.Researchers classify dystrophic epidermolysis bullosa into three major types. Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene.Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (RDEB-HS) is the most severe, classic form of the condition. Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma 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 progressive scarring can include fusion of the fingers and toes, loss of fingernails and toenails, joint deformities (contractures) that restrict movement, and eye inflammation leading to vision loss. Additionally, young adults with the classic form of dystrophic epidermolysis bullosa have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening.A second type of autosomal recessive dystrophic epidermolysis bullosa is known as the non-Hallopeau-Siemens type (non-HS RDEB). This form of the condition is somewhat less severe than the classic type and includes a range of subtypes. Blistering is limited to the hands, feet, knees, and elbows in mild cases, but may be widespread in more severe cases. Affected people often have malformed fingernails and toenails. Non-HS RDEB involves scarring in the areas where blisters occur, but this form of the condition does not cause the severe scarring characteristic of the classic type.The third major type of dystrophic epidermolysis bullosa is known as the autosomal dominant type (DDEB). The signs and symptoms of this condition tend to be milder than those of the autosomal recessive forms, with blistering often limited to the hands, feet, knees, and elbows. The blisters heal with scarring, but it is less severe. 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://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa

Clinical features

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.
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
Deformity or discoloration of a fingernail or toenail.(NICHD)
Milia
MedGen UID:
87528
Concept ID:
C0345996
Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Disease or Syndrome
The presence of developmental dysplasia of the nail.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized dominant dystrophic epidermolysis bullosa
Follow this link to review classifications for Generalized dominant dystrophic epidermolysis bullosa in Orphanet.

Recent clinical studies

Etiology

Fortuna G, Aria M, Cepeda-Valdes R, Pollio A, Moreno-Trevino MG, Salas-Alanís JC
Aust Dent J 2015 Mar;60(1):18-23. doi: 10.1111/adj.12264. PMID: 25721275
Vowinkel T, Laukoetter M, Mennigen R, Hahnenkamp K, Gottschalk A, Boschin M, Frosch M, Senninger N, Tübergen D
Endoscopy 2015 Jun;47(6):541-4. Epub 2015 Jan 15 doi: 10.1055/s-0034-1391308. PMID: 25590175
El-Darouti MA, Fawzy MM, Amin IM, Abdel Hay RM, Hegazy RA, Abdel Halim DM
J Dermatolog Treat 2013 Dec;24(6):422-6. Epub 2013 May 21 doi: 10.3109/09546634.2013.768327. PMID: 23336818
Huang L, Wong YP, Burd A
Int J Dermatol 2011 Jan;50(1):52-6. doi: 10.1111/j.1365-4632.2010.04642.x. PMID: 21182502
Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M
Br J Dermatol 2010 Jul;163(1):155-61. Epub 2010 Feb 22 doi: 10.1111/j.1365-2133.2010.09713.x. PMID: 20184583

Diagnosis

Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H
Arch Dermatol Res 2014 May;306(4):405-11. Epub 2013 Oct 30 doi: 10.1007/s00403-013-1421-y. PMID: 24170138
Catalán JA, Rodríguez FA, Yubero MJ, Palisson F, Gana MJ, Krämer SM, Repetto GM
Int J Dermatol 2012 Sep;51(9):1078-81. doi: 10.1111/j.1365-4632.2011.05428.x. PMID: 22909362
Ohashi M, Shu E, Nagai M, Murase K, Nakano H, Tamai K, Sawamura D, Hiroka T, Seishima M, Kitajima Y, Aoyama Y
J Dermatol 2011 Sep;38(9):893-9. Epub 2011 Jun 9 doi: 10.1111/j.1346-8138.2011.01230.x. PMID: 21658117
Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M
Br J Dermatol 2010 Jul;163(1):155-61. Epub 2010 Feb 22 doi: 10.1111/j.1365-2133.2010.09713.x. PMID: 20184583
Fleming KF, Wu JJ, Dyson SW, Dadras SS, Metz BJ
Dermatol Online J 2009 Apr 15;15(4):4. PMID: 19450397

Therapy

Kirkorian AY, Weitz NA, Tlougan B, Morel KD
Pediatr Dermatol 2014 Jan-Feb;31(1):33-7. Epub 2013 Nov 14 doi: 10.1111/pde.12243. PMID: 24224977
Venugopal SS, Yan W, Frew JW, Cohn HI, Rhodes LM, Tran K, Melbourne W, Nelson JA, Sturm M, Fogarty J, Marinkovich MP, Igawa S, Ishida-Yamamoto A, Murrell DF
J Am Acad Dermatol 2013 Dec;69(6):898-908.e7. Epub 2013 Sep 24 doi: 10.1016/j.jaad.2013.08.014. PMID: 24075228
El-Darouti MA, Fawzy MM, Amin IM, Abdel Hay RM, Hegazy RA, Abdel Halim DM
J Dermatolog Treat 2013 Dec;24(6):422-6. Epub 2013 May 21 doi: 10.3109/09546634.2013.768327. PMID: 23336818
Arnold AW, Bruckner-Tuderman L, Zuger C, Itin PH
Dermatology 2009;219(1):80-3. Epub 2009 May 13 doi: 10.1159/000218714. PMID: 19439919

Prognosis

Vowinkel T, Laukoetter M, Mennigen R, Hahnenkamp K, Gottschalk A, Boschin M, Frosch M, Senninger N, Tübergen D
Endoscopy 2015 Jun;47(6):541-4. Epub 2015 Jan 15 doi: 10.1055/s-0034-1391308. PMID: 25590175
El-Darouti MA, Fawzy MM, Amin IM, Abdel Hay RM, Hegazy RA, Abdel Halim DM
J Dermatolog Treat 2013 Dec;24(6):422-6. Epub 2013 May 21 doi: 10.3109/09546634.2013.768327. PMID: 23336818
Hanafusa T, Tamai K, Umegaki N, Yamaguchi Y, Fukuda S, Nishikawa Y, Yaegashi N, Okuyama R, McGrath JA, Katayama I
Clin Exp Dermatol 2012 Jan;37(1):10-4. Epub 2011 Oct 18 doi: 10.1111/j.1365-2230.2011.04179.x. PMID: 22007850
Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M
Br J Dermatol 2010 Jul;163(1):155-61. Epub 2010 Feb 22 doi: 10.1111/j.1365-2133.2010.09713.x. PMID: 20184583
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

Clinical prediction guides

Fortuna G, Aria M, Cepeda-Valdes R, Pollio A, Moreno-Trevino MG, Salas-Alanís JC
Aust Dent J 2015 Mar;60(1):18-23. doi: 10.1111/adj.12264. PMID: 25721275
Vowinkel T, Laukoetter M, Mennigen R, Hahnenkamp K, Gottschalk A, Boschin M, Frosch M, Senninger N, Tübergen D
Endoscopy 2015 Jun;47(6):541-4. Epub 2015 Jan 15 doi: 10.1055/s-0034-1391308. PMID: 25590175
Tolar J, McGrath JA, Xia L, Riddle MJ, Lees CJ, Eide C, Keene DR, Liu L, Osborn MJ, Lund TC, Blazar BR, Wagner JE
J Invest Dermatol 2014 May;134(5):1246-1254. Epub 2013 Dec 6 doi: 10.1038/jid.2013.523. PMID: 24317394Free PMC Article
Almeida Jr HL, Nudelmann L, Rocha NM, Castro LA
An Bras Dermatol 2012 Mar-Apr;87(2):285-7. PMID: 22570034
Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S
J Dermatol Sci 2009 May;54(2):114-20. Epub 2009 Mar 3 doi: 10.1016/j.jdermsci.2009.01.006. PMID: 19261445

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