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Progressive recessive dystrophic epidermolysis bullosa(EBR3)

MedGen UID:
78666
•Concept ID:
C0268368
•
Congenital Abnormality
Synonyms: EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA; EPIDERMOLYSIS BULLOSA PROGRESSIVA, RECESSIVE; EPIDERMOLYSIS BULLOSA WITH CONGENITAL DEAFNESS
SNOMED CT: EBR 3 (254176007); Goldscheider disease (254176007); Progressive recessive dystrophic epidermolysis bullosa (254176007); Epidermolysis bullosa dystrophica neurotrophica (254176007); Goldscheider's disease (254176007)
 
Monarch Initiative: MONDO:0009178
OMIM®: 226500

Clinical features

From HPO
Congenital sensorineural hearing impairment
MedGen UID:
356101
•Concept ID:
C1865866
•
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
See: Feature record | Search on this feature
Nail dystrophy
MedGen UID:
66368
•Concept ID:
C0221260
•
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
See: Feature record | Search on this feature
Nail dysplasia
MedGen UID:
331737
•Concept ID:
C1834405
•
Congenital Abnormality
The presence of developmental dysplasia of the nail.
See: Feature record | Search on this feature
Diffuse slow skin atrophy
MedGen UID:
870415
•Concept ID:
C4024860
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Kinetics of Wound Development and Healing Suggests a Skin-Stabilizing Effect of Allogeneic ABCB5(+) Mesenchymal Stromal Cell Treatment in Recessive Dystrophic Epidermolysis Bullosa.
Niebergall-Roth E, Dieter K, Daniele C, Fluhr S, Khokhrina M, Silva I, Ganss C, Frank MH, Kluth MA
Cells 2023 May 24;12(11) doi: 10.3390/cells12111468. PMID: 37296590Free PMC Article
Placenta-based therapies for the treatment of epidermolysis bullosa.
Nevala-Plagemann C, Lee C, Tolar J
Cytotherapy 2015 Jun;17(6):786-795. Epub 2015 Mar 18 doi: 10.1016/j.jcyt.2015.03.006. PMID: 25795271Free PMC Article
Surgical treatment and postoperative splinting of recessive dystrophic epidermolysis bullosa.
Ladd AL, Kibele A, Gibbons S
J Hand Surg Am 1996 Sep;21(5):888-97. doi: 10.1016/S0363-5023(96)80210-3. PMID: 8891991

Recent clinical studies

Etiology

The potential of gene therapy for recessive dystrophic epidermolysis bullosa.
Subramaniam KS, Antoniou MN, McGrath JA, Lwin SM
Br J Dermatol 2022 Apr;186(4):609-619. Epub 2022 Apr 1 doi: 10.1111/bjd.20910. PMID: 34862606
Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives.
Condorelli AG, Dellambra E, Logli E, Zambruno G, Castiglia D
Int J Mol Sci 2019 Nov 14;20(22) doi: 10.3390/ijms20225707. PMID: 31739489Free PMC Article
Gene therapy: pursuing restoration of dermal adhesion in recessive dystrophic epidermolysis bullosa.
Cutlar L, Greiser U, Wang W
Exp Dermatol 2014 Jan;23(1):1-6. doi: 10.1111/exd.12246. PMID: 24107073
Epidermolysis bullosa and cancer.
Mallipeddi R
Clin Exp Dermatol 2002 Nov;27(8):616-23. doi: 10.1046/j.1365-2230.2002.01130.x. PMID: 12472531

Diagnosis

Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.
Has C, South A, Uitto J
Mol Diagn Ther 2020 Jun;24(3):299-309. doi: 10.1007/s40291-020-00466-7. PMID: 32328988Free PMC Article
Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives.
Condorelli AG, Dellambra E, Logli E, Zambruno G, Castiglia D
Int J Mol Sci 2019 Nov 14;20(22) doi: 10.3390/ijms20225707. PMID: 31739489Free PMC Article
IL-6/IL-10 Ratio as A Prognostic and Predictive Marker of the Severity of Inherited Epidermolysis Bullosa.
Tampoia M, Abbracciavento L, Morrone M, Fumarulo R
Iran J Immunol 2017 Dec;14(4):340-349. PMID: 29276186
A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.
Menoud A, Welle M, Tetens J, Lichtner P, Drögemüller C
PLoS One 2012;7(6):e38823. Epub 2012 Jun 8 doi: 10.1371/journal.pone.0038823. PMID: 22715415Free PMC Article
Pretibial epidermolysis bullosa.
Rizzo C, Anandasabapathy N, Walters RF, Rosenman K, Kamino H, Prystowsky S, Schaffer JV
Dermatol Online J 2008 Oct 15;14(10):26. PMID: 19061625

Therapy

Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa.
Trefzer L, Hess ME, Scholten L, Technau-Hafsi K, Meiss F, Boerries M, Has C, Rafei-Shamsabadi D
Acta Derm Venereol 2023 Jun 20;103:adv4870. doi: 10.2340/actadv.v103.4870. PMID: 37338146Free 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
Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.
Has C, South A, Uitto J
Mol Diagn Ther 2020 Jun;24(3):299-309. doi: 10.1007/s40291-020-00466-7. PMID: 32328988Free PMC Article
Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa.
Cianfarani F, De Domenico E, Nyström A, Mastroeni S, Abeni D, Baldini E, Ulisse S, Uva P, Bruckner-Tuderman L, Zambruno G, Castiglia D, Odorisio T
Matrix Biol 2019 Aug;81:3-16. Epub 2018 Dec 5 doi: 10.1016/j.matbio.2018.12.001. PMID: 30528862
Placenta-based therapies for the treatment of epidermolysis bullosa.
Nevala-Plagemann C, Lee C, Tolar J
Cytotherapy 2015 Jun;17(6):786-795. Epub 2015 Mar 18 doi: 10.1016/j.jcyt.2015.03.006. PMID: 25795271Free PMC Article

Prognosis

Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa.
Trefzer L, Hess ME, Scholten L, Technau-Hafsi K, Meiss F, Boerries M, Has C, Rafei-Shamsabadi D
Acta Derm Venereol 2023 Jun 20;103:adv4870. doi: 10.2340/actadv.v103.4870. PMID: 37338146Free PMC Article
Aberrant recruitment of leukocytes defines poor wound healing in patients with recessive dystrophic epidermolysis bullosa.
Phillips T, Huitema L, Cepeda R, Cobos DL, Perez RIM, Garza MS, Ringpfeil F, Dasgeb B, Uitto J, Salas-Alanis JC, Alexeev V, Igoucheva O
J Dermatol Sci 2020 Dec;100(3):209-216. Epub 2020 Oct 17 doi: 10.1016/j.jdermsci.2020.10.009. PMID: 33143962
Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa.
Cianfarani F, De Domenico E, Nyström A, Mastroeni S, Abeni D, Baldini E, Ulisse S, Uva P, Bruckner-Tuderman L, Zambruno G, Castiglia D, Odorisio T
Matrix Biol 2019 Aug;81:3-16. Epub 2018 Dec 5 doi: 10.1016/j.matbio.2018.12.001. PMID: 30528862
An algorithmic approach for the management of hand deformities in dystrophic epidermolysis bullosa.
Tuncer S, Sezgin B, Kaya B, Ayhan S, Latifoglu O
J Plast Surg Hand Surg 2018 Apr;52(2):80-86. Epub 2017 Jul 2 doi: 10.1080/2000656X.2017.1338183. PMID: 28669251
Epidermolysis bullosa and cancer.
Mallipeddi R
Clin Exp Dermatol 2002 Nov;27(8):616-23. doi: 10.1046/j.1365-2230.2002.01130.x. PMID: 12472531

Clinical prediction guides

Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa.
Trefzer L, Hess ME, Scholten L, Technau-Hafsi K, Meiss F, Boerries M, Has C, Rafei-Shamsabadi D
Acta Derm Venereol 2023 Jun 20;103:adv4870. doi: 10.2340/actadv.v103.4870. PMID: 37338146Free PMC Article
The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database.
Petrof G, Papanikolaou M, Martinez AE, Mellerio JE, McGrath JA, Bardhan A, Harper N, Heagerty A, Ogboli M, Chiswell C, Moss C
Br J Dermatol 2022 May;186(5):843-848. Epub 2022 Mar 31 doi: 10.1111/bjd.20958. PMID: 34927719
Aberrant recruitment of leukocytes defines poor wound healing in patients with recessive dystrophic epidermolysis bullosa.
Phillips T, Huitema L, Cepeda R, Cobos DL, Perez RIM, Garza MS, Ringpfeil F, Dasgeb B, Uitto J, Salas-Alanis JC, Alexeev V, Igoucheva O
J Dermatol Sci 2020 Dec;100(3):209-216. Epub 2020 Oct 17 doi: 10.1016/j.jdermsci.2020.10.009. PMID: 33143962
A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.
Menoud A, Welle M, Tetens J, Lichtner P, Drögemüller C
PLoS One 2012;7(6):e38823. Epub 2012 Jun 8 doi: 10.1371/journal.pone.0038823. PMID: 22715415Free PMC Article
Keratinocyte gene therapy.
Vogel JC
Arch Dermatol 1993 Nov;129(11):1478-83. PMID: 8239704

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