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Recessive dystrophic epidermolysis bullosa inversa

MedGen UID:
698413
•Concept ID:
C1275113
•
Disease or Syndrome
Synonyms: dystrophic epidermolysis bullosa inversa; Dystrophic epidermolysis bullosa inverse type; inverse RDEB; inverse recessive dystrophic epidermolysis bullosa; RDEB inversa; RDEB-I; recessive dystrophic epidermolysis bullosa inversa
SNOMED CT: Dystrophic epidermolysis bullosa inverse type (403809003)
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:0019310
Orphanet: ORPHA79409

Definition

A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecessive dystrophic epidermolysis bullosa inversa

Professional guidelines

PubMed

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M
J Invest Dermatol 2002 Dec;119(6):1456-62. doi: 10.1046/j.1523-1747.2002.19606.x. PMID: 12485454

Recent clinical studies

Etiology

Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study.
Mellerio JE, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, Papanikolaou M, McGrath JA, Wang Y, Martinez AE, Jeffs E
Orphanet J Rare Dis 2023 Aug 9;18(1):235. doi: 10.1186/s13023-023-02817-z. PMID: 37559055Free PMC Article
Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa.
Yerlett N, Loizou A, Bageta M, Petrof G, Martinez AE
Clin Exp Dermatol 2022 Jul;47(7):1307-1313. Epub 2022 May 25 doi: 10.1111/ced.15156. PMID: 35245948
Otological complications in inversa type recessive dystrophic epidermolysis bullosa.
Robertson SJ, Prodinger C, Liu L, Skilbeck C, Petrof G, Martinez AE, Mellerio JE, Greenblatt DT
Clin Exp Dermatol 2022 Apr;47(4):717-723. Epub 2022 Jan 5 doi: 10.1111/ced.15029. PMID: 34826142
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF
J Med Genet 2011 Mar;48(3):160-7. Epub 2010 Nov 26 doi: 10.1136/jmg.2010.082230. PMID: 21113014
Oral involvement of recessive dystrophic epidermolysis bullosa inversa.
Wright JT, Fine JD, Johnson LB, Steinmetz TT
Am J Med Genet 1993 Dec 1;47(8):1184-8. doi: 10.1002/ajmg.1320470811. PMID: 8291553

Diagnosis

Dystrophic Epidermolysis Bullosa Inversa - Case Report and Review of the Literature.
Merzel Šabović EK, Luzar B, Wechtersbach K, Dolenc-Voljč M
Acta Dermatovenerol Croat 2022 Nov;30(3):151-156. PMID: 36812272
Otological complications in inversa type recessive dystrophic epidermolysis bullosa.
Robertson SJ, Prodinger C, Liu L, Skilbeck C, Petrof G, Martinez AE, Mellerio JE, Greenblatt DT
Clin Exp Dermatol 2022 Apr;47(4):717-723. Epub 2022 Jan 5 doi: 10.1111/ced.15029. PMID: 34826142
Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa.
Woodley DT, Cogan J, Mosallaei D, Yim K, Chen M
J Dermatol Sci 2021 Nov;104(2):104-111. Epub 2021 Sep 23 doi: 10.1016/j.jdermsci.2021.09.006. PMID: 34674926Free PMC Article
Oral involvement of recessive dystrophic epidermolysis bullosa inversa.
Wright JT, Fine JD, Johnson LB, Steinmetz TT
Am J Med Genet 1993 Dec 1;47(8):1184-8. doi: 10.1002/ajmg.1320470811. PMID: 8291553
Dermolytic (dystrophic) epidermolysis bullosa inversa.
Pearson RW, Paller AS
Arch Dermatol 1988 Apr;124(4):544-7. PMID: 3355197

Therapy

Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa.
Yerlett N, Loizou A, Bageta M, Petrof G, Martinez AE
Clin Exp Dermatol 2022 Jul;47(7):1307-1313. Epub 2022 May 25 doi: 10.1111/ced.15156. PMID: 35245948
Dermolytic (dystrophic) epidermolysis bullosa inversa.
Pearson RW, Paller AS
Arch Dermatol 1988 Apr;124(4):544-7. PMID: 3355197

Prognosis

Dystrophic Epidermolysis Bullosa Inversa - Case Report and Review of the Literature.
Merzel Šabović EK, Luzar B, Wechtersbach K, Dolenc-Voljč M
Acta Dermatovenerol Croat 2022 Nov;30(3):151-156. PMID: 36812272
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
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
Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature.
Fine JD, Johnson LB, Weiner M, Stein A, Cash S, DeLeoz J, Devries DT, Suchindran C
J Urol 2004 Nov;172(5 Pt 1):2040-4. doi: 10.1097/01.ju.0000143200.86683.2c. PMID: 15540785
Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.
Kahofer P, Bruckner-Tuderman L, Metze D, Lemmink H, Scheffer H, Smolle J
Pediatr Dermatol 2003 May-Jun;20(3):243-8. doi: 10.1046/j.1525-1470.2003.20312.x. PMID: 12787275
Dystrophic epidermolysis bullosa inversa: report of two cases with further correlation between electron microscopic and immunofluorescence studies.
Lin AN, Smith LT, Fine JD
J Am Acad Dermatol 1995 Aug;33(2 Pt 2):361-5. doi: 10.1016/0190-9622(95)91434-x. PMID: 7615886

Clinical prediction guides

Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).
Jeffs E, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, McGrath JA, Wang Y, Martinez AE, Mellerio JE
Orphanet J Rare Dis 2024 Oct 11;19(1):375. doi: 10.1186/s13023-024-03349-w. PMID: 39394129Free PMC Article
Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study.
Mellerio JE, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, Papanikolaou M, McGrath JA, Wang Y, Martinez AE, Jeffs E
Orphanet J Rare Dis 2023 Aug 9;18(1):235. doi: 10.1186/s13023-023-02817-z. PMID: 37559055Free PMC Article
Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa.
Yerlett N, Loizou A, Bageta M, Petrof G, Martinez AE
Clin Exp Dermatol 2022 Jul;47(7):1307-1313. Epub 2022 May 25 doi: 10.1111/ced.15156. PMID: 35245948
Otological complications in inversa type recessive dystrophic epidermolysis bullosa.
Robertson SJ, Prodinger C, Liu L, Skilbeck C, Petrof G, Martinez AE, Mellerio JE, Greenblatt DT
Clin Exp Dermatol 2022 Apr;47(4):717-723. Epub 2022 Jan 5 doi: 10.1111/ced.15029. PMID: 34826142
Anchoring fibrils, collagen VII, and neutral metalloproteases in recessive dystrophic epidermolysis bullosa inversa.
Bruckner-Tuderman L, Winberg JO, Anton-Lamprecht I, Schnyder UW, Gedde-Dahl T Jr
J Invest Dermatol 1992 Nov;99(5):550-8. doi: 10.1111/1523-1747.ep12667372. PMID: 1431215

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