How are Desmosomal Disorders Diagnosed in Children?
Diagnosing desmosomal disorders in children typically involves a combination of clinical evaluation, genetic testing, and histological examination.
Clinical Evaluation: Physicians look for characteristic signs and symptoms such as skin blistering or cardiac irregularities. Genetic Testing: Identifies mutations in genes encoding desmosomal proteins. Histological Examination: Biopsy samples are examined under a microscope to identify abnormalities in desmosome structure.
