Background: Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis.
Case Report: We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c.3793+1G>A mutation affecting ITGB4, previously described only in the heterozygous state with other mutations.
Conclusion: The previously unreported homozygous c.3793+1G>A mutation affecting ITGB4 causes a severe form of junctional epidermolysis bullosa with pyloric atresia and aplasia cutis.
Background: KLHL24 (Kelch-like protein 24) is a significant component of the ubiquitin-proteasome system (UPS), involved in regulating protein turnover through targeted ubiquitination and degradation. Germline mutations in KLHL24 gene have been known to cause Epidermolysis Bullosa Simplex characterized by skin fragility but has recently been found to cause Cardiomyopathy.
Main Body: Various cardiomyopathies, including hypertrophic cardiomyopathy and dilated cardiomyopathy, leading to abnormal protein degradation and affecting the stability and function of essential cardiac proteins which finally results into structural and functional abnormalities in cardiac muscle.
We present the case of a 36-year-old paraplegic woman with a history of spinal cord injury who developed a generalized blistering rash, later diagnosed as bullous pemphigoid (BP). During her hospitalization, she was treated with prednisone and rituximab infusions, transitioning to maintenance therapy with topical steroids, doxycycline, and nicotinamide. A year later, she presented with concerns about a BP flare on her feet.
Background: Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features. This prospective study aimed to analyze the correlation between oral health-related quality of life (OHRQoL) and the objectively measured oral health indices of people suffering from EB and within their subtypes.
Methods: The German version of the Oral Health Impact Profile (OHIP-14G) was employed for the assessment of OHRQoL.
Laboratory of Human Cytogenetics, Molecular Genetics, and Reproductive Biology, Farhat Hached University Hospital, University of Sousse, Sousse, Tunisia.
Epidermolysis Bullosa (EB) is a group of genetic skin disorders characterized by extreme skin fragility and blistering. In North African countries, including Tunisia, complex genetic and phenotypic diversity is entangled with a scarcity of scientific research on EB. This lack of knowledge presents a distinct challenge in terms of diagnostic accuracy and patient care.
