Epidermolysis bullosa letalis
ICD-10 Q81.1 is a billable code used to indicate a diagnosis of epidermolysis bullosa letalis.
Epidermolysis bullosa letalis (EBL) is a severe genetic skin disorder characterized by extreme fragility of the skin and mucous membranes, leading to blister formation and erosions with minimal trauma. This condition is primarily caused by mutations in genes responsible for the structural integrity of the skin, particularly those encoding for proteins in the basement membrane zone. Clinically, patients present with widespread blistering at birth, which can lead to significant morbidity and mortality due to complications such as infection, fluid loss, and nutritional deficiencies. The condition is often associated with other congenital malformations, including those affecting the skin, breast, spleen, and adrenal glands. Management of EBL requires a multidisciplinary approach, including dermatology, pediatrics, and genetics, to address the complex needs of affected individuals and their families. Genetic counseling is essential for families to understand the inheritance patterns and risks for future pregnancies.
Detailed clinical notes on the patient's skin condition, treatment plans, and follow-up care.
Management of newborns with blistering skin, monitoring for infections, and nutritional support.
Consideration of psychosocial impacts on families and the need for supportive care.
Genetic testing results, family pedigree, and counseling notes.
Counseling families about inheritance patterns and risks for future pregnancies.
Understanding the implications of genetic mutations and the potential for other associated congenital conditions.
Used for follow-up visits in managing EBL.
Document the patient's condition, treatment plan, and any changes in management.
Pediatricians should focus on growth and development assessments.
EBL is primarily caused by mutations in genes that encode proteins essential for skin integrity, particularly in the basement membrane zone.
