U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Recessive dystrophic epidermolysis bullosa-generalized other

MedGen UID:
1392226
•Concept ID:
C4511044
•
Disease or Syndrome
Synonyms: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; autosomal recessive dystrophic epidermolysis bullosa, generalised other; autosomal recessive dystrophic epidermolysis bullosa, generalized other; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; generalised mitis RDEB; generalized mitis RDEB; Generalized RDEB, intermediate form; RDEB generalisata mitis; RDEB, generalised intermediate; RDEB, generalized intermediate; RDEB, non-Hallopeau-Siemens type; RDEB-generalized other; RDEB-O; RDEB-O - recessive dystrophic epidermolysis bullosa-generalized other; Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type; recessive dystrophic epidermolysis bullosa, generalised intermediate; recessive dystrophic epidermolysis bullosa, generalized intermediate; recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type; recessive dystrophic epidermolysis bullosa-generalized other
SNOMED CT: Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (725407006); RDEB-O - recessive dystrophic epidermolysis bullosa-generalized other (725407006)
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)
 
Monarch Initiative: MONDO:0019522
Orphanet: ORPHA89842

Definition

A subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalised blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecessive dystrophic epidermolysis bullosa-generalized other

Professional guidelines

PubMed

Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.
Liy-Wong C, Tarango C, Pope E, Coates T, Bruckner AL, Feinstein JA, Schwieger-Briel A, Hubbard LD, Jane C, Torres-Pradilla M, Zmazek M, Lara-Corrales I
Orphanet J Rare Dis 2023 Feb 23;18(1):38. doi: 10.1186/s13023-022-02448-w. PMID: 36823529Free PMC Article
Treatment of hereditary epidermolysis bullosa: updates and future prospects.
Hsu CK, Wang SP, Lee JY, McGrath JA
Am J Clin Dermatol 2014 Feb;15(1):1-6. doi: 10.1007/s40257-013-0059-z. PMID: 24402870
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R, Sadowski S, Uitto J, Pfendner E
J Med Genet 2007 Mar;44(3):181-92. Epub 2006 Sep 13 doi: 10.1136/jmg.2006.045302. PMID: 16971478Free PMC Article

Recent clinical studies

Etiology

Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D, Jayashankar C, Srinivas M, Baraka Vishwanathan G, Reddy KR, Kubba A, Batrani M, Hiremagalore R
PLoS One 2023;18(8):e0289558. Epub 2023 Aug 9 doi: 10.1371/journal.pone.0289558. PMID: 37556444Free PMC Article
Impaired Wound Healing, Fibrosis, and Cancer: The Paradigm of Recessive Dystrophic Epidermolysis Bullosa.
Tartaglia G, Cao Q, Padron ZM, South AP
Int J Mol Sci 2021 May 12;22(10) doi: 10.3390/ijms22105104. PMID: 34065916Free PMC Article
Cellular therapy options for genetic skin disorders with a focus on recessive dystrophic epidermolysis bullosa.
Naso G, Petrova A
Br Med Bull 2020 Dec 15;136(1):30-45. doi: 10.1093/bmb/ldaa029. PMID: 32888294
Treatment of hereditary epidermolysis bullosa: updates and future prospects.
Hsu CK, Wang SP, Lee JY, McGrath JA
Am J Clin Dermatol 2014 Feb;15(1):1-6. doi: 10.1007/s40257-013-0059-z. PMID: 24402870
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R, Sadowski S, Uitto J, Pfendner E
J Med Genet 2007 Mar;44(3):181-92. Epub 2006 Sep 13 doi: 10.1136/jmg.2006.045302. PMID: 16971478Free PMC Article

Diagnosis

Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.
Liy-Wong C, Tarango C, Pope E, Coates T, Bruckner AL, Feinstein JA, Schwieger-Briel A, Hubbard LD, Jane C, Torres-Pradilla M, Zmazek M, Lara-Corrales I
Orphanet J Rare Dis 2023 Feb 23;18(1):38. doi: 10.1186/s13023-022-02448-w. PMID: 36823529Free PMC Article
Dystrophic Epidermolysis Bullosa.
Yadav RS, Jayswal A, Shrestha S, Gupta SK, Paudel U
JNMA J Nepal Med Assoc 2018 Sep-Oct;56(213):879-882. doi: 10.31729/jnma.3791. PMID: 31065125Free PMC Article
Inpatient management of children with recessive dystrophic epidermolysis bullosa: A review.
Li AW, Prindaville B, Bateman ST, Gibson TE, Wiss K
Pediatr Dermatol 2017 Nov;34(6):647-655. Epub 2017 Sep 25 doi: 10.1111/pde.13276. PMID: 28944966
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R, Sadowski S, Uitto J, Pfendner E
J Med Genet 2007 Mar;44(3):181-92. Epub 2006 Sep 13 doi: 10.1136/jmg.2006.045302. PMID: 16971478Free PMC Article
Epidermolysis bullosa: new and emerging trends.
Pai S, Marinkovich MP
Am J Clin Dermatol 2002;3(6):371-80. doi: 10.2165/00128071-200203060-00001. PMID: 12113646

Therapy

Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.
Tartaglia G, Fuentes I, Patel N, Varughese A, Israel LE, Park PH, Alexander MH, Poojan S, Cao Q, Solomon B, Padron ZM, Dyer JA, Mellerio JE, McGrath JA, Palisson F, Salas-Alanis J, Han L, South AP
EMBO Mol Med 2024 Apr;16(4):870-884. Epub 2024 Mar 10 doi: 10.1038/s44321-024-00048-8. PMID: 38462666Free PMC Article
In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.
Gurevich I, Agarwal P, Zhang P, Dolorito JA, Oliver S, Liu H, Reitze N, Sarma N, Bagci IS, Sridhar K, Kakarla V, Yenamandra VK, O'Malley M, Prisco M, Tufa SF, Keene DR, South AP, Krishnan SM, Marinkovich MP
Nat Med 2022 Apr;28(4):780-788. Epub 2022 Mar 28 doi: 10.1038/s41591-022-01737-y. PMID: 35347281Free PMC Article
Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa.
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
Cellular therapy options for genetic skin disorders with a focus on recessive dystrophic epidermolysis bullosa.
Naso G, Petrova A
Br Med Bull 2020 Dec 15;136(1):30-45. doi: 10.1093/bmb/ldaa029. PMID: 32888294
Phenytoin revisited.
Finkel MJ
Clin Ther 1984;6(5):577-91. PMID: 6383610

Prognosis

Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D, Jayashankar C, Srinivas M, Baraka Vishwanathan G, Reddy KR, Kubba A, Batrani M, Hiremagalore R
PLoS One 2023;18(8):e0289558. Epub 2023 Aug 9 doi: 10.1371/journal.pone.0289558. PMID: 37556444Free PMC Article
ABCB5(+) mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa.
Dieter K, Niebergall-Roth E, Daniele C, Fluhr S, Frank NY, Ganss C, Kiritsi D, McGrath JA, Tolar J, Frank MH, Kluth MA
Cytotherapy 2023 Jul;25(7):782-788. Epub 2023 Mar 1 doi: 10.1016/j.jcyt.2023.01.015. PMID: 36868990Free PMC Article
Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing.
Onoufriadis A, Proudfoot LE, Ainali C, Torre D, Papanikolaou M, Rayinda T, Rashidghamat E, Danarti R, Mellerio JE, Ma'ayan A, McGrath JA
Exp Dermatol 2022 Mar;31(3):420-426. Epub 2021 Nov 2 doi: 10.1111/exd.14481. PMID: 34694680
Epidermolysis bullosa with congenital absence of skin: Review of the literature.
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
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R, Sadowski S, Uitto J, Pfendner E
J Med Genet 2007 Mar;44(3):181-92. Epub 2006 Sep 13 doi: 10.1136/jmg.2006.045302. PMID: 16971478Free PMC Article

Clinical prediction guides

Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D, Jayashankar C, Srinivas M, Baraka Vishwanathan G, Reddy KR, Kubba A, Batrani M, Hiremagalore R
PLoS One 2023;18(8):e0289558. Epub 2023 Aug 9 doi: 10.1371/journal.pone.0289558. PMID: 37556444Free PMC Article
Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing.
Onoufriadis A, Proudfoot LE, Ainali C, Torre D, Papanikolaou M, Rayinda T, Rashidghamat E, Danarti R, Mellerio JE, Ma'ayan A, McGrath JA
Exp Dermatol 2022 Mar;31(3):420-426. Epub 2021 Nov 2 doi: 10.1111/exd.14481. PMID: 34694680
A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa.
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
Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging.
Breitenbach JS, Rinnerthaler M, Trost A, Weber M, Klausegger A, Gruber C, Bruckner D, Reitsamer HA, Bauer JW, Breitenbach M
Aging (Albany NY) 2015 Jun;7(6):389-411. doi: 10.18632/aging.100755. PMID: 26143532Free PMC Article
Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma.
South AP, O'Toole EA
Dermatol Clin 2010 Jan;28(1):171-8. doi: 10.1016/j.det.2009.10.023. PMID: 19945632

Recent systematic reviews

A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa.
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

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

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...