Meet the 'butterfly' baby
Jamie White, from Staffordshire, was born with epidermolysis bullosa (EB) - an incurable condition. It causes his skin to tear at the slightest touch.
We report the case of a girl with epidermolysis bullosa simplex (EBS) associated with muscular dystrophy secondary to congenital plectin deficiency. She presented severe respiratory tract lesions extending from the oral cavity to the larynx. In particular, we describe our medical and surgical management of the laryngeal lesions, responsible for several episodes of respiratory distress and feeding difficulties.DiscussionEpidermolysis bullosa simplex associated with muscular dystrophy is a rare hereditary form of EB, as fewer than 50 cases have been reported in the literature. This form is characterized by mucosal lesions in...
ConclusionscSCC is a life-threatening complication of RDEB patients. Although tumors are usually well differentiated, they tend to relapse. This is the first Spanish report of cSCC arising in RDEB patients.
Planta Med DOI: 10.1055/a-0850-0224With central European approval in January 2016 for a betulin-oleogel (Episalvan), used to accelerate wound closure in partial thickness wounds, the herbal active ingredient triterpene dry extract (betulin), from birch bark, was introduced into therapy for the first time. Clinical evidence of accelerated wound healing was provided in a new study design by means of intraindividual comparison of split-thickness skin graft donor wounds and burn wounds. Clinical results of a phase II study evidencing accelerated wound healing in the rare disease epidermolysis bullosa are also available, and a ...
(Thomas Jefferson University) New research lays foundation for upcoming clinical trial for patients with epidermolysis bullosa.
CONCLUSIONS: These data support a "first in RDEB" phase II clinical trial of rigosertib to assess tumor targeting in patients with late stage, metastatic and/ or unresectable SCC. PMID: 30846478 [PubMed - as supplied by publisher]
CONCLUSIONS: PTCy BMT in RDEB provides a means of attaining immunotolerance for future donor-derived cellular grafts (trial registered as NCT02582775). This article is protected by copyright. All rights reserved. PMID: 30843184 [PubMed - as supplied by publisher]
(Universidad Carlos III de Madrid) A group of researchers lead by a lecturer from the Universidad Carlos III de Madrid (UC3M), Marcela del R í o, from the CIEMAT, the Rare Diseases Networking Biomedical Research Centre (Initials in Spanish: CIBERER-- ISCIII) and Fundaci ó n Jim é nez D í az has identified a common genetic signature among three rare skin diseases or genodermatoses: recessive dystrophic epidermolysis bullosa, Kindler syndrome and xeroderma pigmentosum. In the near future, these findings will allow efficient and safe evidence-based therapeutic approaches.
CONCLUSIONS: Guidelines regarding implant treatment of patients with oLp, Pe, EB, SjS, sLE or sSc do not exist nor are contraindicating conditions defined. Implant survival rates of patients affected are comparable to those of healthy patients. For implant-prosthetic rehabilitation of patients with Pe and sLE no conclusions can be drawn due to lack of sufficient clinical data. Implant-prosthetic treatment guidelines regarding healthy patients should be strictly followed, but frequent recall is recommended in patients affected with oLp, SjS, EB, SSc, Pe or sLE. PMID: 30818315 [PubMed - in process]
The CRISPR/Cas9 system induces site-specific double-strand breaks (DSBs), which stimulate cellular DNA repair through either the homologous recombination (HR) or non-homologous end-joining (NHEJ) pathways. The NHEJ pathway, which is activated more frequently than HR, is prone to introducing small insertions and/or deletions at the DSB site, leading to changes in the reading frame. We hypothesized that the NHEJ pathway is applicable to genetic diseases caused by a frameshift mutation through restoration of the reading frame.
PMID: 30821372 [PubMed - in process]