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Localized dystrophic epidermolysis bullosa

MedGen UID:
634276
•Concept ID:
C0474885
•
Congenital Abnormality
Synonyms: localised DEB; localized DEB; Localized DEB; localized dystrophic epidermolysis bullosa
SNOMED CT: Localized dystrophic epidermolysis bullosa (254186008)
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 dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 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 recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0035349
Orphanet: ORPHA595356

Definition

A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). [from ORDO]

Professional guidelines

PubMed

Epidermolysis bullosa dystrophica pretibialis - Clinical snapshot and management of a rare orphan disease.
Will LM, Reichrath J, Vogt T
J Dtsch Dermatol Ges 2021 Jul;19(7):983-986. Epub 2021 May 5 doi: 10.1111/ddg.14446. PMID: 33951274
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
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
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
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(Suppl 1):3-81. doi: 10.1111/scd.12511. PMID: 33202040Free PMC Article

Recent clinical studies

Etiology

Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients.
Korte EWH, Baardman R, Pool G, Duipmans JC, van den Akker PC, Bolling MC
Br J Dermatol 2024 Oct 17;191(5):737-745. doi: 10.1093/bjd/ljae242. PMID: 38860499
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
Epidermolysis Bullosa in children: the central role of the pediatrician.
Marchili MR, Spina G, Roversi M, Mascolo C, Pentimalli E, Corbeddu M, Diociaiuti A, El Hachem M, Villani A
Orphanet J Rare Dis 2022 Apr 4;17(1):147. doi: 10.1186/s13023-021-02144-1. PMID: 35379269Free PMC Article
Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up.
Thevenon A, Preud'homme M, Patenotre P, Catteau B, Blanchard-Dauphin A, Wieczorek V, Tiffreau V
J Rehabil Med 2016 Oct 12;48(9):833-835. doi: 10.2340/16501977-2125. PMID: 27534753
Evaluation and treatment of the newborn with epidermolysis bullosa.
Gonzalez ME
Semin Perinatol 2013 Feb;37(1):32-9. doi: 10.1053/j.semperi.2012.11.004. PMID: 23419761

Diagnosis

Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients.
Korte EWH, Baardman R, Pool G, Duipmans JC, van den Akker PC, Bolling MC
Br J Dermatol 2024 Oct 17;191(5):737-745. doi: 10.1093/bjd/ljae242. PMID: 38860499
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
Evaluation and treatment of the newborn with epidermolysis bullosa.
Gonzalez ME
Semin Perinatol 2013 Feb;37(1):32-9. doi: 10.1053/j.semperi.2012.11.004. PMID: 23419761
Epidermolysis bullosa care in Scandinavia.
Vahlquist A, Tasanen K
Dermatol Clin 2010 Apr;28(2):425-7, xv. doi: 10.1016/j.det.2010.02.018. PMID: 20447519
Dystrophic epidermolysis bullosa.
Burkhart CG, Ruppert ES
Clin Pediatr (Phila) 1981 Aug;20(8):493-6. doi: 10.1177/000992288102000801. PMID: 7249491

Therapy

Progress in skin gene therapy: From the inside and out.
Osborn MJ, Panda S, Reineke TM, Tolar J, Nyström A
Mol Ther 2025 May 7;33(5):2065-2081. Epub 2025 Mar 12 doi: 10.1016/j.ymthe.2025.03.017. PMID: 40077969Free PMC Article
Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial.
Guttmann-Gruber C, Piñón Hofbauer J, Tockner B, Reichl V, Klausegger A, Hofbauer P, Wolkersdorfer M, Tham KC, Lim SS, Common JE, Diem A, Ude-Schoder K, Hitzl W, Lagler F, Reichelt J, Bauer JW, Lang R, Laimer M
Orphanet J Rare Dis 2021 Nov 8;16(1):473. doi: 10.1186/s13023-021-02062-2. PMID: 34749770Free 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
Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up.
Thevenon A, Preud'homme M, Patenotre P, Catteau B, Blanchard-Dauphin A, Wieczorek V, Tiffreau V
J Rehabil Med 2016 Oct 12;48(9):833-835. doi: 10.2340/16501977-2125. PMID: 27534753
Dystrophic epidermolysis bullosa: oral findings and problems.
Azrak B, Kaevel K, Hofmann L, Gleissner C, Willershausen B
Spec Care Dentist 2006 May-Jun;26(3):111-5. doi: 10.1111/j.1754-4505.2006.tb01433.x. PMID: 16774188

Prognosis

C5aR1 Promotes Invasion, Metastasis, and Poor Prognosis in Cutaneous Squamous Cell Carcinoma.
Heiskanen L, Nissinen L, Siljamäki E, Knuutila JS, Pellinen T, Kallajoki M, Heino J, Riihilä P, Kähäri VM
Am J Pathol 2025 Jun;195(6):1158-1171. Epub 2025 Mar 6 doi: 10.1016/j.ajpath.2025.02.004. PMID: 40056975Free PMC Article
Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients.
Korte EWH, Baardman R, Pool G, Duipmans JC, van den Akker PC, Bolling MC
Br J Dermatol 2024 Oct 17;191(5):737-745. doi: 10.1093/bjd/ljae242. PMID: 38860499
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
Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.
Atanasova VS, Jiang Q, Prisco M, Gruber C, Piñón Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP
J Invest Dermatol 2017 Sep;137(9):1842-1849. Epub 2017 May 24 doi: 10.1016/j.jid.2017.05.011. PMID: 28549954Free PMC Article
Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up.
Thevenon A, Preud'homme M, Patenotre P, Catteau B, Blanchard-Dauphin A, Wieczorek V, Tiffreau V
J Rehabil Med 2016 Oct 12;48(9):833-835. doi: 10.2340/16501977-2125. PMID: 27534753

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
Epidermolysis Bullosa in children: the central role of the pediatrician.
Marchili MR, Spina G, Roversi M, Mascolo C, Pentimalli E, Corbeddu M, Diociaiuti A, El Hachem M, Villani A
Orphanet J Rare Dis 2022 Apr 4;17(1):147. doi: 10.1186/s13023-021-02144-1. PMID: 35379269Free PMC Article
Patient-reported outcomes and quality of life in recessive dystrophic epidermolysis bullosa: A global cross-sectional survey.
Eng VA, Solis DC, Gorell ES, Choi S, Nazaroff J, Li S, de Souza MP, Murrell DF, Marinkovich MP, Tang JY
J Am Acad Dermatol 2021 Nov;85(5):1161-1167. Epub 2020 Mar 19 doi: 10.1016/j.jaad.2020.03.028. PMID: 32199895
Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.
Amber KT, Murrell DF, Schmidt E, Joly P, Borradori L
Clin Rev Allergy Immunol 2018 Feb;54(1):26-51. doi: 10.1007/s12016-017-8633-4. PMID: 28779299
Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis Bullosa.
Esposito S, Guez S, Orenti A, Tadini G, Scuvera G, Corti L, Scala A, Biganzoli E, Berti E, Principi N
Int J Mol Sci 2016 Sep 24;17(10) doi: 10.3390/ijms17101625. PMID: 27669234Free PMC Article

Recent systematic reviews

Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
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(Suppl 1):3-81. doi: 10.1111/scd.12511. PMID: 33202040Free PMC Article

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