Diagnosing Kindler Syndrome in neonates can be challenging due to its rarity and the overlap of symptoms with other skin disorders. However, a combination of clinical evaluation, family history, and specialized tests can aid in diagnosis:
Clinical Examination: A thorough skin examination by a dermatologist can identify characteristic features of the syndrome. Skin Biopsy: A biopsy of the affected skin can show specific histological changes that are indicative of Kindler Syndrome. Genetic Testing: Confirmatory diagnosis is often made through genetic testing to identify mutations in the FERMT1 gene.
