I want to learn anything and everything about epidermolysis bullosa please if anyone can help me, do it I will pray for you ♥️.
Dystrophic Epidermolysis Bullosa ( DEB ) A spectrum of dermolytic diseases where blis- tering occurs below the basal lamina (Image 6-1); healing is therefore usually accompanied by scarring and milia formation—hence, the name dystrophic . There are four principal sub- types, and all are due to mutations in anchoring fibril type VII collagen (Table 6-1). Anchoring fibrils are therefore only rudimentary or absent. Of the four main types of DEB, only two are described below. Dominant DEB Cockayne-Touraine disease. Onset in infancy or early childhood with acral blistering and nail dystrophy; milia and scar formation, which may be hypertrophic or hy- perplastic. Oral lesions are uncommon, and teeth are usually normal. Recessive DEB (RDEB) Comprises a larger spectrum of clinical phenotypes. The localized, less severe form (RDEB mitis) occurs at birth, shows acral blistering, atrophic scarring, and little or no mucosal involvement. Generalized, severe RDEB, the Hallopeau-Siemens variant, is mutilating. There is generalized blistering at birth, and progression and repeated blistering at the same sites (Fig. 6-6) result in remarkable scarring and ulcerations, syndactyly with loss of nails (Fig. 6-7) and even mitten-like deform- ities of hands and feet, flexion contractures. There are enamel defects with caries and paro- dontitis, strictures and scarring in the oral mu- cous membrane and esophagus, urethral and anal stenosis, and ocular surface scarring; also malnutrition, growth retardation, and anemia. The most serious complication is squamous cell carcinoma in chronic recurrent erosions. DIAGNOSIS Based on clinical appearance and history. His- topathology determines the level of cleavage, which is further defined by electron micros- copy and/or immunohistochemical mapping. Western blot, Northern blot, restriction frag- ment length polymorphism (RFLP) analysis, and DNA sequences may then identify the mutated gene. MANAGEMENT There is as yet no causal therapy for EB, but gene therapy is being investigated. Management is tailored to the severity and extent of skin in- volvement and consists of supportive skin care, supportive care for other organ systems, and systemic therapies for complications. Wound management, nutritional support, and infec- tion control are key to the management of all EB patients. In EBS, maintenance of a cool environment and use of soft, well-ventilated shoes, are im- portant. Blistered skin is treated by saline com- presses and topical antibiotics or, in the case of inflammation, with topical steroids. More se- verely affected JEB and DEB patients are treated like patients in a burn unit. Gentle bathing and cleansing are followed by protective emollients and nonadherent dressings. Management of cutaneous infection is im- portant, and surgical treatment is often re- quired in DEB for the release of fused digits and correction of limb contractures. Although rare, EB and, in particular, JEB and DEB pose a major health and socioeconomic problem. Organizations such as the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) offer assistance that includes patient education and support.
For more information Look up in: FITZPATRICK’S COLOR ATLAS AND SYNOPSIS OF CLINICAL DERMATOLOGY. Don't forget to pray for me.
