Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia

Jesus, Lisieux Eyer de; Rangel, Maíra; Moura-Filho, Ronaldo S.; Novaes, Glória; Quattrino, Ada Lobato; Aguas, Angelica F.

doi:10.1590/s1677-5538.ibju.2014.05.17

Cited by 3 publications

(3 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Consequently, their symptoms were resolved, and they had no ulcers or scars (Kajbafzadeh et al, 2010) significantly relieved urological symptoms (Glazier and Zaontz, 1998). For patients with DEB and symptomatic phimosis, classical circumcision may be more appropriate than applying a Plastibell clamp with a touchless technique (Jesus et al, 2014). It is worth noting that male patients with EB who did not receive circumcision have been found to be likely to present with severe painful phimosis during adulthood, resulting in acute urinary retention (Fine et al, 2004).…”

Section: Discussionmentioning

confidence: 99%

Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report

Wang

Guo²,

Chen³

et al. 2022

Front. Genet.

View full text Add to dashboard Cite

Introduction: Epidermolysis bullosa (EB) is a skin fragility disorder that is caused by molecular aberrations in the epidermal basement membrane zone. Based primarily on the cleavage plane within the skin, EB is classified into four major subtypes: EB simplex; junctional EB (JEB); dystrophic EB; and Kindler EB. The junctional form (JEB) can lead to blistering and a variety of extracutaneous complications, including genitourinary tract involvement. Despite therapeutic progress, treatment modalities for urological complications of JEB are currently limited.Results: We present the case of a Chinese male with intermediate JEB and profound urinary tract stenosis. Due to the progression of the urinary tract stenosis, he presented with repeated urological symptoms, such as high frequency of urination, painful urination, and difficult voiding. After birth, multiple blisters on the fingers, feet, and limbs, as well as nail dystrophies and spare hair were noted. Mutation analysis revealed that the patient carried a homozygous frameshift mutation in the LAMB3 gene [c.1172_1179delinsTGTGTGTGCAAGGAG/p. (P391Lfs*23)]. After receiving treatment for urethral dilatation, lingual mucosa for anterior urethroplasty, and repair of urethral stricture using a ventral onlay penile skin flap, the patient still experienced a relapse of urinary tract stenosis. Finally, the patient underwent perineal urethrostomy. In contrast, his older brother with similar urological symptoms received regular urethral dilatation, and the curative effect was positive.Conclusion: Here we report on a case with a novel LAMB3 mutation that led to JEB with profound urinary tract stenosis, which has expanded our experience in the treatment of EB urological complications.

show abstract

Section: Discussionmentioning

confidence: 99%

Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report

Wang

Guo²,

Chen³

et al. 2022

Front. Genet.

View full text Add to dashboard Cite

show abstract

“…Sekeller genellikle izlenir ve erken ölüm görülür. Ölüme neden olan etkenler çocuklarda başlıca enfeksiyonlarken; genç erişkinlerde böbrek yetmezliği ve agresif deri tümörleridir (5). Birçok infant derinin soyulması sonrası gelişen enfeksiyonlara bağlı sepsis, elektrolit imbalansı, protein kaybı ve dehidratasyon nedeniyle kaybedilmiştir (6,7).…”

Section: Discussionunclassified

Di̇strofi̇k Epi̇dermoli̇zi̇s Büllozada Laparoskopi̇k Apendektomi̇: Mi̇ni̇mal İnvazi̇v Gi̇ri̇şi̇mi̇n Avantajlari

Alıcı¹,

Arda²,

İlhan³

et al. 2018

Kocatepe Tıp Dergisi

View full text Add to dashboard Cite

Distrosfik epidermolizis bülloza (DEB), bül oluşumunundermoepidermal bileşkenin dermalyüzünde, bazal laminadaki ayrılma nedeniylegeliştiği bir Epidermolizis Bülloza (EB) tipidir.Bu hastalarda travma ile oluşan mekanik büllerinaçılması enfeksiyona neden olabilir. DEBolan olgularda cerrahi girişim, özellikle batıncerrahisi gerekirse insizyon ve cerrahinin gereğioluşacak büllerin enfekte olmaması için gerekliözenin gösterilmesi gerekir. Bu makalede,bilgilendirilmiş onam formu alınan, DEB tanısıolan perfore apendisit nedeni ile laparoskopikapendektomi yapılmış olan 16 yaşındaki hastasunulmuştur. Cerrahi öncesi ve sırasındaki girişimlerinciltte en az travma ve enfeksiyonunaneden olacak planla gerçekleştirilmesi; özellikledaha az invaziv olan laparoskopik yaklaşımıntercih edilmesi bu ve benzeri olgularda komplikasyonlarıazaltabilecek yaklaşım şeklidir.

show abstract

“…In our patient, wound healing and occurrence of stenosis at the vessels junction point was the biggest concern, both for nephrologists and surgeons. Our optimism though was based on the literature review of few cases operated for other reasons [10, 11]. Nevertheless we were still facing the problem of recurrent needle insertion causing skin damage, which is considered an important problem in this group of patients.…”

Section: Discussionmentioning

confidence: 99%

End-stage kidney disease in patient with epidermolysis bullosa - what are the treatment options? – case report

2017

View full text Add to dashboard Cite

BackgroundEpidermolysis bullosa is a group of diseases caused by mutations in genes for proteins responsible for cells’ anchorage at the dermo-epidermal junction. Their common feature are dysfunctional or even absent connections between cells. The typical clinical sign is the formation of blisters, with possible excessive scarring, in response to minimal skin irritation. End stage renal disease may be one of the comorbidities in patients with epidermolysis bullosa. The implementation of renal replacement therapy may be very difficult in this population. This is mainly due to problems in obtaining the proper dialysis access. The choice of appropriate method may be crucial for patient’s survival.Case presentationWe present a case of 29-year-old woman with Epidermolysis bullosa caused by laminin 5 gene mutation. The patient suffered from additional conditions: blindness, complete bilateral sensorineural deafness and oesophageal stenosis. When end stage renal disease was diagnosed, the problem of renal replacement therapy had to be faced. There have been few reports concerning ESRD in this specific group of patients in the available literature. In most of them the prognosis was very poor. Nevertheless, we were very determined to overcome all the difficulties. Special procedures and cooperation with the patient’s family allowed us to consider kidney transplantation as a treatment option.ConclusionThere should be no limitations in renal replacement therapy in patients with epidermolysis bullosa. Haemodialysis, peritoneal dialysis and kidney transplantation are all possible treatment options. Nevertheless, either method requires special procedures.

show abstract

Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia

Cited by 3 publications

References 9 publications

Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report

Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report

Di̇strofi̇k Epi̇dermoli̇zi̇s Büllozada Laparoskopi̇k Apendektomi̇: Mi̇ni̇mal İnvazi̇v Gi̇ri̇şi̇mi̇n Avantajlari

End-stage kidney disease in patient with epidermolysis bullosa - what are the treatment options? – case report

Contact Info

Product

Resources

About