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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
Biochemistry and Physiology of Mammalian Collagenases
Published in Marcel E. Nimni, Collagen, 1988
George P. Stricklin, Margaret S. Hibbs
Collagenase production may also be inhibited by the action of phenytoin and the retinoids. Neither inhibits collagenase activity directly. The study of phenytoin was prompted by its clinical use in the treatment of recessive dystrophic epidermolysis bullosa, an inherited blistering disease characterized by the overproduction of an altered collagenase by dermal fibroblasts.44,91,98 Clinical trials have proven the efficacy of phenytoin, presumably, as a direct result of its ability to block collagenase production.99 It should be added that other defects, such as the absence of anchoring fibrils, have also been described in this disorder, as well as the absence of antigens for several monoclonal antibodies which may also be related to anchoring fibrils.100–104 The retinoic acid derivatives are also inhibitors of collagenase expression, although the clinical relevance of this property is unclear.105,106
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.
Translational readthrough inducing drugs for the treatment of inherited retinal dystrophies
Published in Expert Review of Ophthalmology, 2020
Christopher M Way, Dulce Lima Cunha, Mariya Moosajee
PTC-containing transcripts are typically degraded by NMD, reducing their availability. Therefore, inhibition of NMD is proposed to increase mRNA stability and as a consequence, increase the amount of substrate for TRIDs to target. Caffeine inhibits NMD through the inhibition of SMG1 kinase [35,36] (Figure 2(c)). It alone has been shown to rescue the phenotype in fibroblasts carrying a PTC seen in the muscular dystrophy Ullrich’s disease, by increasing mRNA and protein levels of the defective collagen VI α2 [37]. NMDI1 is a tetracyclic compound that traps UPF1 in a hyperphosphorylated state, preventing downstream interactions with SMG5 [38] (Figure 2(d)). It is specific for NMD, does not affect translation efficiency and is non-cytotoxic [38]. In a mouse model of Mucopolysacchardisosis I-Hurler syndrome (MPS I-H) that carries the knock-in Idua p.W392* mutation, NMDI1 application with gentamicin resulted in greater readthrough and functional enzymatic activity than gentamicin alone [39]. However, NMDI1 synthesis is inefficient and technically difficult. In contrast, VG1, a structural analogue of NMDI1 with similar inhibition capability, is more easily produced and shows an improved yield [40]. Its mechanism of action is currently unknown but its application to IRDs is awaited. Amlexanox is a compound with both readthrough and NMD inhibition properties. It has been reported as a combined therapy option for PTCs causing cystic fibrosis (CF) and recessive dystrophic epidermolysis bullosa, showing increased levels of full-length proteins compared to G418 and PTC124 alone [41,42].
Extended Wear Bandage Contact Lenses Decrease Pain and Preserve Vision in Patients with Epidermolysis Bullosa: Case Series and Review of Literature
Published in Ocular Immunology and Inflammation, 2020
Ramy Rashad, Matthew C. Weed, Nicole Quinn, Vicki M. Chen
A 3-year-old boy with recessive dystrophic epidermolysis bullosa (RDEB), presented after a mild traumatic injury to the right eye, described as “poked by sister’s finger”. He demonstrated a central 4.0 mm corneal abrasion of the right eye and was treated with moxifloxacin 0.5% ophthalmic solution 3 times daily for 1 week which allowed healing of his abrasion without infection. Following this injury, he reported corneal abrasions recurring every 3–5 months. In total, he presented to his ophthalmologist 11 times in 44 months with an abrasion, severe (6–8/10) pain and decreased visual acuity. His mother reported over 50 days of missed school due to eye pain during his kindergarten year. At 7 years of age, a bandage contact lens (BCL) was recommended for continuous use to prevent additional abrasions. An AIR OPTIX NIGHT & DAY AQUA (lotrafilcon A, 24% water content) 8.6/13.8/+0.50 BCL (Alcon, Fort-Worth, Texas) was placed in the right eye and he was started on moxifloxacin HCL 0.5% ophthalmic solution twice daily for prophylaxis. The patient and family were advised to continue use of preservative free artificial tears every 4–6 hours and lubricating ointment nightly. The patient was instructed to keep the contact lens in place for 30 days, take a 1-day holiday without the lens, and replace with a new lens for an additional 30 days. Over the following 24 months he suffered only 3 abrasions, twice after he rubbed out the BCL at night. He experienced one corneal ulceration in the left eye while not on antibiotic prophylaxis. The ulcer resolved with moxifloxacin HCl 0.3% ophthalmic solution prescribed every 1 hour for 24 hours then every 4 hours for 5 days. After 4 years of continuous BCL use, his BCVA remained at his baseline of 20/25 in each eye.