Wound care in autoimmune bullous diseases

Medical treatment of autoimmune bullous diseases (AIBD) is focused on immunosuppression. In addition, proper wound care is equally important and can improve wound healing and recovery. Goals of wound care management include relieving pain, preventing infection, enhancing regeneration, and encouraging patient mobility and quality of life. Wound care in AIBD patients can be challenging as immunosuppressants may slow wound healing, large areas may be affected, skin fragility and wounds may occur on difficult to dress body sites, non-blistered skin may be fragile as well, and affected patients are often of higher age and less mobile. A personalized wound care plan is warranted, preferably established by experienced nurses.</p

The importance of accurate epidemiological data of epidermolysis bullosa

Linked article: Petrof et al. Br J Dermatol 2022; 186:843–848

Autoimmune bullous diseases in childhood

Autoimmune bullous diseases (AIBDs) rarely occur in childhood and in contrast to the chronic disease course in adults, often have a milder clinical course, a better treatment response and better prognosis. Although literature is scarce, several case reports and case series describe childhood cases of linear IgA disease, bullous pemphigoid, dermatitis herpetiformis, mucous membrane pemphigoid, epidermolysis bullosa acquisita, pemphigus vulgaris, pemphigus foliaceus and paraneoplastic pemphigus. Misdiagnosis and consequently delay in diagnosis is common in childhood AIBD with often initial diagnoses of infectious causes, such as hand-foot-mouth disease or impetigo bullosa. Clinical features of childhood AIBDs may overlap between subtypes, like adult cases, but the differential diagnosis is different in childhood. Another difference between the adult and childhood bullous pemphigoid is the mainly acral distribution of bullous lesions in children and the prognosis of the disease. Bullous pemphigoid and linear IgA disease might possibly be drug-induced or triggered by vaccination.</p

Structure of hemidesmosomes and the epidermal basement membrane zone

Hemidesmosomes are complex, multiprotein structures that mediate the attachment of epithelial cells to the underlying basement membrane. While providing mechanical attachment, these adhesion units are extremely dynamic. They play a significant role in signaling pathways involved in various important cell functions, such as differentiation, wound healing, and survival. Structurally, hemidesmosomes contain the following molecules: plectin (over 500 kDa protein), BP230 (230 kDa antigen, also known as BPAG1), integrin A6B4, BP180 (180 kDa protein, also known as BPAG2 or type XVII collagen, laminin 332 and CD151 (protein of tetraspan superfamily). The epidermal basement membrane zone can be viewed as a thin sheet of matrix underlying the basal epithelial cells. It consists of lamina lucida and lamina densa, mainly containing laminin and type IV collagen networks. Type VII collagen which enters the composition of semicircular anchoring fibrils provide the attachment to the papillary dermis underneath the lamina densa of the basement membrane. When molecules in hemidesmosomes or in the basement membrane zone become target of autoantibodies a particular acquired subepidermal autoimmune blistering disease (sAIBD) will develop.</p

Revertant Mosaicism in Genodermatoses:Natural Gene Therapy Right before Your Eyes

Revertant mosaicism (RM) is the intriguing phenomenon in which nature itself has successfully done what medical science is so eagerly trying to achieve: correcting the effect of disease-causing germline variants and thereby reversing the disease phenotype back to normal. RM was molecularly confirmed for the first time in a genodermatosis in 1997, the genetic skin condition junctional epidermolysis bullosa (EB). At that time, RM was considered an extraordinary phenomenon. However, several important discoveries have changed this conception in the past few decades. First, RM has now been identified in all major subtypes of EB. Second, RM has also been identified in many other genodermatoses. Third, a theoretical mathematical exercise concluded that reverse mutations should be expected in all patients with a recessive subtype of EB or any other genodermatosis. This has shifted the paradigm from RM being an extraordinary phenomenon to it being something that every physician working in the field of genodermatoses should be looking for in every patient. It has also raised hope for new treatment options in patients with genodermatoses. In this review, we summarize the current knowledge on RM and discuss the perspectives of RM for the future treatment of patients with genodermatoses

The relationship between quality of life and coping strategies of children with EB and their parents

BackgroundEpidermolysis bullosa (EB) is a group of rare genetic skin disorders that primarily manifest as blisters and erosions following mild mechanical trauma. Despite the crucial role of the parents of children with EB in managing the disease, studies focusing on the parent-child relationship remain a gap in the literature. To address this gap, the current quantitative study, involving 55 children with all types of EB and 48 parents, assessed the relationship between their quality of life and coping strategies. Quality of life was measured with the Pediatric Quality of Life Inventory and TNO-AZL Questionnaire for Adult's Health- related Quality of Life, and coping strategies were assessed with the Coping with a Disease Questionnaire. The majority of the analyses were descriptive and the results were interpreted qualitatively because of the small sample size.ResultsOverall, the quality of life of children with EB and that of their parents was somewhat lower compared with the quality of life of healthy children and adults. Children with EB who more frequently used emotional reactions and cognitive-palliative strategies to cope with the disease demonstrated lower levels of emotional and social functioning, while children who showed more acceptance and distancing showed higher levels of functioning on all domains. Parents who frequently demonstrated emotional reactions reported lower levels of social functioning and experienced more depressive emotions and anger. Parents who used more avoidance showed higher levels of positive emotions. Within parent-child dyads, acceptance, cognitive-palliative strategies and distancing were positively related. Children's emotional and social functioning were negatively associated with their parents' depressive emotions. Parents' acceptance was linked to higher physical functioning in children, whereas children's avoidance was linked to a lower level of anger in parents.ConclusionChildren who are able to accept the disease or distance themselves from it appear to be better off in contrast to those who tend to engage in the cognitive-palliative strategies and expressing emotional reactions. Parents seem to be better off when they are able to use avoidance in contrast to those who tend to show emotional reactions. Further research is needed to substantiate these findings