TLDR Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
The document described a case of non-Herlitz junctional epidermolysis bullosa (JEB) associated with a mutation in the COL17A1 gene. This condition is characterized by skin fragility and blistering, but the non-Herlitz form is generally less severe than the Herlitz type. The report highlighted the clinical features and genetic findings of the patient, contributing to the understanding of the genetic basis and variability of JEB. The study emphasized the importance of genetic testing in diagnosing and managing this rare skin disorder.
5 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
32 citations,
April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
