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Epidermolysis Bullosa
Published in Charles Theisler, Adjuvant Medical Care, 2023
Epidermolysis bullosa (EB) is a genetic condition that causes fragile, blistering skin, especially on the hands and feet. Blisters may not appear until a toddler begins to walk or engages in new physical activities that increase friction on the feet.1 There are different forms of this genetic disease, depending upon where the blistering occurs within the different skin layers. Infection is the chief complication associated with EB. In recessive dystrophic epidermolysis bullosa, a good nutritional balance is necessary to obtain adequate healing of chronic skin wounds.2
Esophageal dilatation
Published in Mark Davenport, James D. Geiger, Nigel J. Hall, Steven S. Rothenberg, Operative Pediatric Surgery, 2020
Jennifer Billington, Niyi Ade-Ajayi
The majority of children with an esophageal stricture have a satisfactory and sustained response to a few dilatations. In patients with EA/TEF strictures, balloon dilatation is successful in 90% of patients, with half requiring two or more dilatations to achieve complete resolution of symptoms. Complication rates are low in experienced hands. They occur most often during dilatation of corrosive strictures followed by those associated with GERD. Other at-risk patients include those with dystrophic epidermolysis bullosa. Careful postoperative monitoring and a low threshold for chest X-ray and upper GI contrast study facilitate early diagnosis. Three types of esophageal injury occur. Guidewire perforation of the esophagus can be recognized at fluoroscopy and treated conservatively. Submucosal tears of the esophagus are seen as contained extravasation of contrast. These also seem to do well with conservative treatment. Full-thickness perforation is uncommon. Small perforations require nasogastric or parenteral feeding and broad-spectrum antibiotic therapy. Large perforations, if recognized early, may be managed best by surgical repair.
Wound care
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Dystrophic epidermolysis bullosa is a hereditary disease of skin and mucosa that causes blistering after trivial trauma and heals by scarring. It is associated with mutations of collagen VII, which form anchoring fibril-specific proteins. Typically, there is cocooning of the digits in an atrophic scar – pseudosyndactyly and flexion contracture; the digits are generally quite mobile despite the deformity, but surgical release is generally not rewarding as recurrence is almost inevitable. Exsanguination during any surgery should be performed by elevation and not bandaging; tourniquets need extra padding. Grafts can be taken with hand knives; both donor and recipients heal fairly well, but haemolytic streptococcal colonisation is not uncommon. Patients generally die young (third decade) from squamous cell carcinoma (SCC).
Angiotensin II receptor blockers in dermatology: a narrative review
Published in Journal of Dermatological Treatment, 2022
Recessive dystrophic epidermolysis bullosa (RDEB), a severe form of epidermolysis bullosa, usually presents with extreme skin fragility. Increased transforming growth factor beta (TGF-β) expression was observed in RDEB (24), and losartan, due to its properties of reducing TGF-β activity and hindering the fibrosis process in an animal study (25), has been used for RDEB treatment (26). Inamadar et al reported a 6-year-old boy under losartan treatment (26). He was initially provided a dose of 1 mg/kg daily, and after 2 weeks of treatment, his blisters started to decrease; after 7 months of treatment, nearly no lesions remained on the trunk (26). Currently, effective treatment for RDEB is lacking, and losartan could be a treatment option for RDEB. Nevertheless, further research is required to confirm its suitability.
Palliative dermatology – An area of care yet to be explored
Published in Progress in Palliative Care, 2018
N. A. Bishurul Hafi, N. A. Uvais
Many of the rare debilitating genodermatoses like dystrophic epidermolysis bullosa will definitely require palliative care.28 The need for palliative care in HIV/AIDS patients with various medical and surgical problems, which include dermatological conditions too, is well discussed.29 Many serious opportunistic infections in AIDS which require ICU treatment and subsequent palliative care (Penicilliosis, Cryptococcosis, Histoplasmosis, Cryptosporidiosis, etc.) can affect skin exclusively or with systemic affection. In the study mentioned above, they found a significant reduction in the use of blood products, antibiotics, HAART, and prophylaxis for opportunistic infections, in patients evaluated by the palliative care team. In malignancies associated with HIV like kaposis sarcoma and lymphoma, the cutaneous component is significantly present. Even patients with neuropathic pain such as trigeminal neuralgia and post herpetic neuralgia may require pain and palliative management.30
Patent landscape of molecular and cellular targeted therapies for recessive dystrophic epidermolysis bullosa
Published in Expert Opinion on Therapeutic Patents, 2019
Mariel Dourado Alcorte, Mari Cleide Sogayar, Marcos Angelo Demasi
Dystrophic Epidermolysis Bullosa (DEB) is a rare inherited genodermatosis belonging to the group of hereditary skin diseases designated as epidermolysis bullosa (EB), characterized by skin fragility, associated with the formation of blisters caused by small traumas or traction. In contrast with the most prevalent EB subtypes, namely Junctional EB and Simplex EB, which are associated with more than one dysfunctional skin constitutive protein, DEB is a monogenetic disorder associated with deleterious mutations in the gene encoding type VII collagen (COL7A1) [1]. Modes of inheritance for DEB include either autosomal recessive (RDEB) or autosomal dominant (DDEB), with both forms being associated to various degrees of COL7A1 dysfunctionality [2].