The psychological functioning of children with Epidermolysis Bullosa (EB) and its relationship with specific aspects of disease

Epidermolysis Bullosa (EB) is a group of genetic conditions resulting in skin and mucosal membrane fragility. EB is characterised by chronic wounds and scarring, consequent functional limitations and high levels of pain. In its most severe forms, life expectancy is significantly foreshortened

Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis Bullosa

Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in COL7A1 resulting in reduced or absent type VII collagen, aberrant anchoring fibril formation and subsequent dermal-epidermal fragility. Here, we identify a significant decrease in PLOD3 expression and its encoded protein, the collagen modifying enzyme lysyl hydroxylase 3 (LH3), in RDEB. We show abundant LH3 localising to the basement membrane in normal skin which is severely depleted in RDEB patient skin. We demonstrate expression is in-part regulated by endogenous type VII collagen and that, in agreement with previous studies, even small reductions in LH3 expression lead to significantly less secreted LH3 protein. Exogenous type VII collagen did not alter LH3 expression in cultured RDEB keratinocytes and we show that RDEB patients receiving bone marrow transplantation who demonstrate significant increase in type VII collagen do not show increased levels of LH3 at the basement membrane. Our data report a direct link between LH3 and endogenous type VII collagen expression concluding that reduction of LH3 at the basement membrane in patients with RDEB will likely have significant implications for disease progression and therapeutic intervention

Epidermólisis ampollosa, reporte de un caso

Introduction: epidermolysis bullosa refers to a heterogeneous group of chronic hereditary pimple-like diseases affecting the skin and mucosae with blisters and vesicles after minimal injury, with variable involvement of other organs.Case report: 3-year-old female patient with exulcerated skin lesions and some erythema crust-plaques, with scaling at exposure sites such as hands, knees, feet, back of the neck and genitals. She was admitted to “Hermanos Cordové” Pediatric Teaching Hospital in Manzanillo. The medical care was based on maintaining the integrity of the skin avoiding trauma, temperature control, nutrition and prevention of secondary infections. A simple epidermolysis bullosa is diagnosed by skin biopsy.Conclusions: the disease is scarcely known with low incidence and prevalence. It is a major problem in the family and social environment, as parents are dealing with a rare disease of genetic origin and poor prognosis. Medical-social support helps to minimize the problems by means of information and coordination. Treatment requires the care of a multidisciplinary and specialized team.Introducción: la epidermólisis bulosa se refiere a un grupo heterogéneo de enfermedades hereditarias ampulosas crónicas, que afectan a la piel y las mucosas con formación de ampollas y vesículas tras mínimos traumatismos, con afectación variable de otros órganos.Presentación de caso: paciente femenina de 3 años de edad con lesiones de piel exulceradas y algunas eritematocostrosas en placas, con descamación en sitios de exposición como manos, rodillas, pies, parte posterior del cuello y genitales. Se encontraba ingresada en el Hospital Pediátrico Docente “Hermanos Cordové", de Manzanillo. Los cuidados médicos se basaron en mantener la entereza de la piel evitando traumatismo, control de la temperatura, nutrición y prevención de infecciones secundarias. Se diagnostica por biopsia de piel una epidermólisis bulosa simple. Conclusiones: la enfermedad es poco conocida con baja incidencia y prevalencia. Supone un problema de gran magnitud en el entorno familiar y social, al enfrentarse los padres a una enfermedad rara con origen genético y de mal pronóstico. El apoyo médico-social ayuda a minimizar los problemas, a través de la información y coordinación. Para su tratamiento es necesaria la atención de un equipo multidisciplinario y especializado.

Management of chronic wounds in patients with dystrophic epidermolysis bullosa: challenges and solutions

Ellie Rashidghamat,1 Jemima E Mellerio,1,2 1St John’s Institute of Dermatology, King’s College London, 2St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK Abstract: Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of severe inherited blistering diseases that affects 500,000 individuals worldwide. Clinically, individuals with EB have fragile skin and are susceptible to blistering following minimal trauma and show involvement of mucus membrane and other organs in some subtypes. Dystrophic EB (DEB) is divided into 2 major types depending on the inheritance pattern: recessive DEB (RDEB) and dominant DEB (DDEB). RDEB tends to be at the more severe end of the clinical spectrum and has a prevalence of 8 per 1 million of the population, accounting for approximately 5% of all cases of EB. RDEB is caused by loss-of-function mutations in the type VII collagen gene, COL7A1, which leads to reduced or absent type VII collagen (C7) and structurally defective anchoring fibrils at the dermal-epidermal junction. In this review, we will discuss the management of chronic wounds in individuals with DEB, highlighting the changes to practice and the novel therapies that may offer a solution to this debilitating and complex problem which is one of the greatest sources of morbidity in this disease. Keywords: epidermolysis bullosa, recessive dystrophic, dominant dystrophic, wound healin