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Journal articles on the topic 'Recessive dystrophic epidermolysis bullosa'

Author: Grafiati

Published: 4 June 2021

Last updated: 3 February 2022

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1

Destro, M., I. H. L. Wallow, and F. S. Brightbill. "Recessive Dystrophic Epidermolysis Bullosa." Archives of Ophthalmology 105, no. 9 (September 1, 1987): 1248–52. http://dx.doi.org/10.1001/archopht.1987.01060090106038.

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2

Yadav, Randhir Sagar, Amar Jayswal, Shumneva Shrestha, Sanjay Kumar Gupta, and Upama Paudel. "Dystrophic Epidermolysis Bullosa." Journal of Nepal Medical Association 56, no. 213 (October 31, 2018): 879–82. http://dx.doi.org/10.31729/jnma.3791.

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Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1. There are 14 subtypes of dystrophic epidermolysis bullosa and 400 mutations of COL7A1. Electron microscopy is the gold standard diagnostic test but expensive. Immunofluorescence study is a suitable diagnostic alternative. Trauma prevention along with supportive care is the mainstay of therapy. Squamous cell carcinoma develops at an early age in epidermolysis bullosa than other patients, particularly in recessive dystrophic epidermolysis bullosa subtypes. Regular follow up is imperative in detecting and preventing complications. Gene therapy, cell therapy and bone marrow transplantation are the emerging novel therapeutic innovations. Preventing possible skin and mucosal injury in patients requiring surgery should be worked on. Here, we present a case of dystrophic epidermolysis bullosa in a 26 year male.

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3

Wood, M. L., and C. I. Harrington. "(41) Recessive dystrophic epidermolysis bullosa." British Journal of Dermatology 115, s30 (July 1986): 86. http://dx.doi.org/10.1111/j.1365-2133.1986.tb07736.x.

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4

Norris, J. F. B., and W. J. Cunliffe. "(21) Recessive dystrophic epidermolysis bullosa." British Journal of Dermatology 117, s32 (June 1987): 68–69. http://dx.doi.org/10.1111/j.1365-2133.1987.tb12061.x.

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5

Lee, Myn Wee, George Varigos, Peter Foley, and Gayle Ross. "Photodynamic Therapy for Basal Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa." ISRN Dermatology 2011 (April 27, 2011): 1–4. http://dx.doi.org/10.5402/2011/346754.

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A 22-year-old male with recessive dystrophic epidermolysis bullosa with a large superficial and nodular basal cell carcinoma on his right forehead was treated with photodynamic therapy. The treatment was well tolerated, and the site healed well. Patients with epidermolysis bullosa are at increased risk of developing skin cancers, particularly squamous cell carcinomas. However, basal cell carcinomas are rare in recessive dystrophic epidermolysis bullosa. As patients with epidermolysis bullosa have recurrent blistering and poor wound healing, surgery may not be the optimal choice in treating skin cancers. We present this case to highlight that photodynamic therapy may be a helpful and safe technique in the treatment of superficial skin cancers in patients with epidermolysis bullosa, as an alternative to more radical methods.

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6

FINE, J. D., L. B. JOHNSON, M. WEINER, A. STEIN, S. CASH, J. DELEOZ, D. T. DEVRIES, and C. SUCHINDRAN. "Pseudosyndactyly and Musculoskeletal Contractures in Inherited Epidermolysis Bullosa: Experience of the National Epidermolysis Bullosa Registry, 1986–2002." Journal of Hand Surgery 30, no. 1 (February 2005): 14–22. http://dx.doi.org/10.1016/j.jhsb.2004.07.006.

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Mitten deformities of the hands and feet occur in nearly every patient with the most severe subtype (Hallopeau-Siemens) of recessive dystrophic epidermolysis bullosa, and in at least 40–50% of all other recessive dystrophic epidermolysis bullosa patients. Smaller numbers of patients with dominant dystrophic, junctional, and simplex types of epidermolysis bullosa are also at risk of this complication. Surgical intervention is commonly performed to correct these deformities, but recurrence and the need for repeated surgery are common. Higher numbers of epidermolysis bullosa patients also develop musculoskeletal contractures in other anatomic sites, further impairing overall function. Lifetable analyses not only better project the cumulative risk of mitten deformities and other contractures but also emphasize the need for early surveillance and intervention, since both of these musculoskeletal complications may occur within the first year of life.

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7

Kumar, Sneh. "An Unusual Case Report of Dystrophica Epidermolysis Bullosa in a Child." Journal of Evolution of Medical and Dental Sciences 10, no. 37 (September 13, 2021): 3314–16. http://dx.doi.org/10.14260/jemds/2021/672.

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Epidermolysis bullosa (EB) is a genetically inherited severe skin disease involving dermal-epidermal junction. Based on the appearance and involvement, it is grouped into simplex, junctional & dystrophic forms. These disorders represent heterogeneous phenotypes and are correlated with a variable range of complications, from localized skin fragility to neonatal death. Genetic testing had made a precise diagnosis and it requires only supportive and symptomatic therapy. Here we report an atypical case of dystrophica epidermolysis bullosa in a 6-year-old male child. Epidermolysis bullosa (EB) is a general term used for heterogeneous group of congenital, genetic blistering disorders. It has a wide spectrum of clinical presentations. 1 It is characterized by induction of blisters by trauma, exacerbation of blistering in warm weather and healing with scarring. EB can be categorized under three major groups - epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). EB simplex has an incidence and a prevalence rate of 10.75 and 4.65, 2.04 and 0.44 of junctional EBs and 2.86 and 0.99 of dystrophic EBs and recessive dystrophic EB 2.04 and 0.92 respectively.2 The dystrophic forms are characterized by deformities of the skin including coalescence of the fingers, nail changes and milia formation.3 This case report highlights the rare presentation of recurrent episodes of blisters and limb deformities in 6 - year - old male children.

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8

Pajardi, Giorgio, Giorgio Pivato, and Giorgio Rafanelli. "Rehabilitation in Recessive Dystrophic Epidermolysis Bullosa." Techniques in Hand & Upper Extremity Surgery 5, no. 3 (September 2001): 173–77. http://dx.doi.org/10.1097/00130911-200109000-00009.

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9

Kemmett, D., and G. C. Priestley. "Phenytoin in recessive dystrophic epidermolysis bullosa." Journal of Dermatological Treatment 1, no. 3 (January 1990): 147–49. http://dx.doi.org/10.3109/09546639009086718.

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10

BAUER, EUGENE A. "Collagenase in Recessive Dystrophic Epidermolysis Bullosa." Annals of the New York Academy of Sciences 460, no. 1 Biology, Chem (December 1985): 311–20. http://dx.doi.org/10.1111/j.1749-6632.1985.tb51178.x.

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11

Boria, F., R. Maseda, M. Martín-Cameán, M. De la Calle, and R. de Lucas. "Recessive Dystrophic Epidermolysis Bullosa and Pregnancy." Actas Dermo-Sifiliográficas (English Edition) 110, no. 1 (January 2019): 50–52. http://dx.doi.org/10.1016/j.adengl.2018.11.004.

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12

Fening, Katherine, Amy Theos, Aleodor Andea, Bethaney Vincent, Klaus Busam, and Kristopher McKay. "Epidermolysis Bullosa Nevus in a Patient With Recessive Dystrophic Epidermolysis Bullosa." American Journal of Dermatopathology 36, no. 12 (December 2014): e194-e197. http://dx.doi.org/10.1097/dad.0000000000000059.

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13

Bhari, Neetu, and Prashant Bharti. "Dystrophic calcinosis cutis in autosomal recessive dystrophic epidermolysis bullosa." BMJ Case Reports 12, no. 9 (September 2019): e231287. http://dx.doi.org/10.1136/bcr-2019-231287.

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A 6-year-old girl presented with a history of blistering and scarring in trauma-prone areas. On examination, calcium deposits were seen on bilateral palms and soles within her non-healing wounds. Clinical, genetic and radiological evaluation confirmed the diagnosis of autosomal recessive dystrophic epidermolysis bullosa with dystrophic calcification. The patient was started on topical 10% sodium thiosulfate for her calcinosis cutis. Identification and management of dystrophic calcification are important as it impairs wound healing.

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14

Urs, Pallavi, and Shagun Sinha. "Hereditary Dystrophic Epidermolysis Bullosa A Rare Case Report." CODS Journal of Dentistry 7, no. 2 (2015): 84–86. http://dx.doi.org/10.5005/cods-7-2-84.

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Abstract Epidermolysis bullosa (EB) is a diverse group of disorders characterized by blister formation with tissue separation occurring at variable depths in the skin and oral mucosa depending on the specific EB type. Oral tissue fragility and blistering is common to all EB types. However oral debilitation as a result of soft tissue scarring is primarily limited to the recessive dystrophic EB subtypes. Due to extreme mucosal fragility such patients are managed by modified dental care practices. This case report describes a rare case of recessive dystrophic EB. How to cite this article: Neena IE, Sinha S, Poornima P, Pallavi Urs. Hereditary Dystrophic Epidermolysis bullosa- A Rare Case Report. CODS J Dent 2015;7: 84-86

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15

Jefferies, John L., Jeffrey Towbin, Thomas Ryan, and Anne Lucky. "CARDIOVASCULAR FINDINGS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA." Journal of the American College of Cardiology 61, no. 10 (March 2013): E589. http://dx.doi.org/10.1016/s0735-1097(13)60589-6.

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16

ABAHUSSEIN, ABDULAZIZ A., AHMAD A. AL-ZAYIR, WEDAD Z. MOSTAFA, and ANEZI N. OKORO. "RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA TREATED WITH PHENYTOIN." International Journal of Dermatology 31, no. 10 (October 1992): 730–32. http://dx.doi.org/10.1111/j.1365-4362.1992.tb01385.x.

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17

Serrano-Martínez, MC, JV Bagán, FJ Silvestre, and MT Viguer. "Oral lesions in recessive dystrophic epidermolysis bullosa." Oral Diseases 9, no. 5 (August 11, 2003): 264–68. http://dx.doi.org/10.1034/j.1601-0825.2003.03971.x.

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18

Fortier-Beaulieu, Marc. "Digestive Involvement in Dystrophic Recessive Epidermolysis Bullosa." Archives of Dermatology 124, no. 12 (December 1, 1988): 1870. http://dx.doi.org/10.1001/archderm.1988.01670120076021.

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19

Mahto, A., J. A. McGrath, F. Deroide, and M. H. A. Rustin. "Late-onset pretibial recessive dystrophic epidermolysis bullosa." Clinical and Experimental Dermatology 38, no. 6 (June 20, 2013): 630–32. http://dx.doi.org/10.1111/ced.12072.

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20

Almaani, Noor, Nikoletta Nagy, Lu Liu, Patricia J. C. Dopping-Hepenstal, Joey E. Lai-Cheong, Suzanne E. Clements, Tanasit Techanukul, Akio Tanaka, Jemima E. Mellerio, and John A. McGrath. "Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa." Journal of Investigative Dermatology 130, no. 7 (July 2010): 1937–40. http://dx.doi.org/10.1038/jid.2010.64.

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21

Kaneko, Kazunari, Mie Kakuta, Yoshiyuki Ohtomo, Toshiaki Shimizu, Yuichiro Yamashiro, Hideoki Ogawa, and Motomu Manabe. "Renal Amyloidosis in Recessive Dystrophic Epidermolysis bullosa." Dermatology 200, no. 3 (2000): 209–12. http://dx.doi.org/10.1159/000018384.

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22

Titeux, Matthias, Valérie Pendaries, and Alain Hovnanian. "Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa." Dermatologic Clinics 28, no. 2 (April 2010): 361–66. http://dx.doi.org/10.1016/j.det.2010.02.003.

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23

Horan, Thomas A., John D. Urschel, Norman A. MacEachem, Boris Shulman, A. Neil Crowson, and Cynthia Magro. "Esophageal perforation in recessive dystrophic epidermolysis bullosa." Annals of Thoracic Surgery 57, no. 4 (April 1994): 1027–29. http://dx.doi.org/10.1016/0003-4975(94)90234-8.

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24

Glicenstein, Julien, Dominique Mariani, and Robert Haddad. "THE HAND IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA." Hand Clinics 16, no. 4 (November 2000): 637–45. http://dx.doi.org/10.1016/s0749-0712(21)00223-7.

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25

Moon, Eun Sun, Sung Taek Jung, and Myung Sun Kim. "SURGICAL TREATMENT OF PSEUDOSYNDACTYLY OF CHILDREN WITH EPIDERMOLYSIS BULLOSA: A CASE REPORT." Hand Surgery 12, no. 03 (January 2007): 143–47. http://dx.doi.org/10.1142/s0218810407003614.

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Recessive dystrophic epidermolysis bullosa (RDEB) is an uncommon and severe disorder characterised by trauma-induced blisters, intractable skin ulcers, scarring, milia, and nail dystrophy. We report the good result of both surgical release of fingers allowing spontaneous epithelisation without skin grafting and post-operative meticulous skin care without splinting, followed-up for one year.

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26

Ikeda, Shigaku, Motomu Manabe, Tsutomu Muramatsu, Kenji Takarnori, and Hideoki Ogawa. "Protease inhibitor therapy for recessive dystrophic epidermolysis bullosa." Journal of the American Academy of Dermatology 18, no. 6 (June 1988): 1246–52. http://dx.doi.org/10.1016/s0190-9622(88)70130-9.

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27

Khandelwal, Vipin, Dharma Choudhary, Sanjeev Kumar Sharma, and Divya Doval. "Bone marrow transplant for recessive dystrophic epidermolysis bullosa." Pediatric Hematology Oncology Journal 4, no. 3 (September 2019): 74–76. http://dx.doi.org/10.1016/j.phoj.2019.09.002.

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28

Twaroski, K., C. Eide, M. J. Riddle, L. Xia, C. J. Lees, W. Chen, W. Mathews, D. R. Keene, J. A. McGrath, and J. Tolar. "Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa." British Journal of Dermatology 181, no. 6 (July 8, 2019): 1247–53. http://dx.doi.org/10.1111/bjd.17943.

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29

Le Touze, A., D. Viau, L. Martin, Ph Depont, and M. Robert. "Recessive Dystrophic Epidermolysis Bullosa - Management of Hand Deformities." European Journal of Pediatric Surgery 3, no. 06 (December 1993): 352–55. http://dx.doi.org/10.1055/s-2008-1066043.

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30

Oh, S.-W., J. S. Lee, M. Y. Kim, J. Y. Choi, and S.-C. Kim. "Recessive dystrophic epidermolysis bullosa associated with dilated cardiomyopathy." British Journal of Dermatology 157, no. 3 (September 2007): 610–12. http://dx.doi.org/10.1111/j.1365-2133.2007.07962.x.

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31

Petrova, A., D. Ilic, and J. A. McGrath. "Stem cell therapies for recessive dystrophic epidermolysis bullosa." British Journal of Dermatology 163, no. 6 (November 4, 2010): 1149–56. http://dx.doi.org/10.1111/j.1365-2133.2010.09981.x.

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32

Wagner, John E., Akemi Ishida-Yamamoto, John A. McGrath, Maria Hordinsky, Douglas R. Keene, David T. Woodley, Mei Chen, et al. "Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa." New England Journal of Medicine 363, no. 7 (August 12, 2010): 629–39. http://dx.doi.org/10.1056/nejmoa0910501.

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33

DE MATTOS CAMARGO GROSSMANN, SORAYA, THAINÃ NEVES BARBOSA, ANA MARIA REBOUÇAS RODRIGUES, RINALDO BORGES DE ALMEIDA, CYBELLE LUÍSA DE SOUZA PEREIRA, and RICARDO ALVES DE MESQUITA. "Recessive Dystrophic Epidermolysis Bullosa: A Suggestion of Protocol." Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 117, no. 2 (February 2014): e131-e132. http://dx.doi.org/10.1016/j.oooo.2013.10.077.

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34

Wright, J. Timothy, Jo-David Fine, Loraine B. Johnson, and Todd T. Steinmetz. "Oral involvement of recessive dystrophic epidermolysis bullosa inversa." American Journal of Medical Genetics 47, no. 8 (December 1, 1993): 1184–88. http://dx.doi.org/10.1002/ajmg.1320470811.

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35

Curto-Barredo, Laia, Sonia Segura, Carlos Barranco, Beatriz Bellosillo, Josep Lloreta, Agustí Toll, Onofre Sanmartín, and Ramon M. Pujol. "Verruciform Xanthoma Developing in Recessive Dystrophic Epidermolysis Bullosa." American Journal of Dermatopathology 36, no. 6 (June 2014): 506–9. http://dx.doi.org/10.1097/dad.0b013e31828b6fb2.

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36

Larcher, F., and M. Del Río. "Innovative Therapeutic Strategies for Recessive Dystrophic Epidermolysis Bullosa." Actas Dermo-Sifiliográficas (English Edition) 106, no. 5 (June 2015): 376–82. http://dx.doi.org/10.1016/j.adengl.2015.04.006.

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37

Diana, Inne Arline, Srie Prihianti Gondokaryono, Reiva Farah Dwiyana, July Iriani Rahardja, Yuri Yogya, and Hendra Gunawan. "Intrafamilial Diversity of Clinical Severity in Dominant Dystrophic Epidermolysis Bullosa: Case Series of Three Generations." Open Dermatology Journal 13, no. 1 (February 28, 2019): 3–7. http://dx.doi.org/10.2174/1874372201913010003.

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Background: Epidermolysis bullosa, a group of inheritable blistering diseases with considerable clinical and genetic diversity, is divided into distinct subtypes depending on the level of tissue separation in the dermal–epidermal basement membrane zone. The dystrophic form of epidermolysis bullosa (DEB) is characterized by tense blisters and erosions which heals with extensive scarring. The fact that DEB can be inherited in either autosomal dominant (DDEB) or autosomal recessive (RDEB) pattern adds to its clinical diversity. The cause of marked clinical diversity in mild to severe DDEB is still unidentified. Main Observation: We report an intrafamilial diversity of clinical severity in dominant dystrophic epidermolysis bullosa (DDEB) cases within three generations. Conclusion: We emphasize the variety of clinical severity in DDEB cases within three generations which might be caused by unknown gene modifiers and environmental factors.

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38

Vaidya, S. "HLA and epidermolysis bullosa. Association between the HLA complex and recessive dystrophic epidermolysis bullosa." Archives of Dermatology 127, no. 10 (October 1, 1991): 1524–27. http://dx.doi.org/10.1001/archderm.127.10.1524.

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39

DOS SANTOS HELMS, JANAINA BARBIERI, CELSO OLIVEIRA DE SOUSA, and SANDRA REGINA TORRES. "RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA ORAL LESIONS: A CASE REPORT." Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 129, no. 1 (January 2020): e121. http://dx.doi.org/10.1016/j.oooo.2019.06.527.

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40

ISHIKAWA, O., S. WARITA, K. OHNISHI, and Y. MIYACHI. "A scleroderma-like variant of recessive dystrophic epidermolysis bullosa?" British Journal of Dermatology 129, no. 5 (November 1993): 602–5. http://dx.doi.org/10.1111/j.1365-2133.1993.tb00494.x.

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41

Vanden Oever, Michael, Kirk Twaroski, Mark J. Osborn, John E. Wagner, and Jakub Tolar. "Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa." Pediatric Research 83, no. 1-2 (November 1, 2017): 318–24. http://dx.doi.org/10.1038/pr.2017.244.

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42

Murat-Sušić, S., Z. Paštar, I. Dobrić, A. Camino Varela, Z. Hutinec, K. Husar, and A. Kljenak. "Verruciform xanthoma in recessive dystrophic epidermolysis bullosa Hallopeau-Siemens." International Journal of Dermatology 46, no. 9 (September 2007): 955–59. http://dx.doi.org/10.1111/j.1365-4632.2007.03071.x.

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43

Yi, Shigehiro, Makoto Naito, Kiyoshi Takahashi, Reiko Nogami, Yoshihiro Maekawa, and Tatsuyoshi Arao. "Complicating systemic amyloidosis in dystrophic epidermolysis bullosa, recessive type." Pathology 20, no. 2 (1988): 184–87. http://dx.doi.org/10.3109/00313028809066631.

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44

Shipman, Alexa Rose, Lu Liu, Joey E. Lai-Cheong, John A. McGrath, and Adrian Heagerty. "Somatic Forward (Nonrevertant) Mosaicism in Recessive Dystrophic Epidermolysis Bullosa." JAMA Dermatology 150, no. 9 (September 1, 2014): 1025. http://dx.doi.org/10.1001/jamadermatol.2014.281.

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45

Kawaguchi, M., Y. Mitsuhashi, and S. Kondo. "Osteoporosis in a patient with recessive dystrophic epidermolysis bullosa." British Journal of Dermatology 141, no. 5 (November 1999): 934. http://dx.doi.org/10.1046/j.1365-2133.1999.03178.x.

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46

Twaroski, K., C. Eide, M. Riddle, C. J. Lees, W. Mathews, D. Keene, J. McGrath, and J. Tolar. "396 Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa." Journal of Investigative Dermatology 139, no. 5 (May 2019): S68. http://dx.doi.org/10.1016/j.jid.2019.03.472.

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47

Mack, Madison R., Gwen Wendelschafer-Crabb, Brian D. McAdams, Maria K. Hordinsky, William R. Kennedy, and Jakub Tolar. "Peripheral Neuro-Immune Pathology in Recessive Dystrophic Epidermolysis Bullosa." Journal of Investigative Dermatology 135, no. 4 (April 2015): 1193–97. http://dx.doi.org/10.1038/jid.2014.500.

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48

Bernardis, Catina, and Rachel Box. "Surgery of the Hand in Recessive Dystrophic Epidermolysis Bullosa." Dermatologic Clinics 28, no. 2 (April 2010): 335–41. http://dx.doi.org/10.1016/j.det.2010.01.013.

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49

Tsukamoto, Noboru, Eriko Kobayashi, Haruyuki Kasuda, Midori Nakao, Taroh Tsukahara, Shinichi Nakao, Koh Miyashita, Reijyu Shimizu, and Tsutomu Hiramoto. "Anesthesia for a patient with recessive dystrophic epidermolysis bullosa." Journal of Anesthesia 3, no. 2 (September 1989): 223–26. http://dx.doi.org/10.1007/s0054090030223.

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50

Zauner, R., M. Wimmer, T. Lettner, N. Niklas, S. Atzmüller, J. Reichelt, J. W. Bauer, and V. Wally. "155 Identification of isomiRs in recessive dystrophic epidermolysis bullosa." Journal of Investigative Dermatology 136, no. 9 (September 2016): S187. http://dx.doi.org/10.1016/j.jid.2016.06.173.

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