Dermatology - Junctional Hereditary Epidermolysis Bullosa

Dermatology - Junctional Hereditary Epidermolysis Bullosa
Hereditary epidermolysis bullosa refers to a range of uncommon genetic skin disorders. Disruption of the structural integrity of the outermost layer of skin (epidermis) and/or the layer beneath it (dermis) results in the development of blisters after an injury.
The classification is determined by the location where blisters form: epidermolytic or EB simplex (EBS), junctional EB (JEB), and dermolytic or dystrophic EB (DEB). Each of them contains multiple unique categories. Junctional Epidermolysis Bullosa (JEB) is characterized by the development of blisters in the basement membrane caused by genetic abnormalities in the collagen XVII and laminin genes. This characteristic is inherited in an autosomal recessive manner and encompasses multiple clinical manifestations.

The survival rate for infants with Herlitz EB is frequently low, with a mortality rate of 40% within the first year of life. Additional observations encompass any symptoms arising from widespread blistering of the epithelial tissue, affecting the respiratory, gastrointestinal, and genitourinary systems.
Non-Herlitz mitis subtype These children may experience moderate or severe illness at birth yet manage to survive infancy and show clinical improvement as they grow older. Non-Herlitz generalized atrophic benign epidermolysis bullosa (EB) manifests at birth and individuals affected by this condition live into maturity. They experience ongoing blistering following injury, which is especially noticeable in higher temperatures, and the lesions heal with atrophy. The individual may experience nail dystrophy, which refers to abnormal nail growth, as well as either nonscarring or scarring alopecia, which is hair loss that may or may not leave permanent scars. There may also be mild involvement of the oral mucous membranes, which are the moist tissues inside the mouth. Additionally, enamel defects, which are abnormalities in the outer layer of teeth, may develop.

Herlitz EB is a medical condition. The individual presents with either widespread blistering at birth or specific and severe inflammation around the mouth, accompanied by nail loss and affected mucous membranes. The skin may be entirely stripped, resulting in the painful discharge of an eroded area. Non-Herlitz mitis subtype During childhood, there are occurrences of nonhealing erosions around the mouth and other facial areas, known as periorificial. Non-Herlitz generalized atrophic benign EB is characterized by widespread blistering and erosions on the limbs, trunk, face, and scalp.

The diagnosis relies on the clinical presentation and medical history. Histopathology assesses the degree of separation, which is further characterized by electron microscopy and/or immunohistochemistry mapping.

Management encompasses the provision of supportive skin care, supportive care for various organ systems, and systemic therapies for problems. Wound treatment, dietary assistance, and infection control are essential. Patients with more serious conditions receive treatment similar to that provided in a burn unit. The process begins with a gentle bathing and cleansing, which is then followed by the application of protective emollients and nonadherent dressings.