RESUMO
Pathogenic variants in several genes involved in the function or regulation of smooth muscle cells (SMC) are known to predispose to congenital heart disease and thoracic aortic aneurysm and dissection (TAAD). Variants in MYLK are primarily known to predispose to TAAD, but a growing body of evidence points toward MYLK also playing an essential role in the regulation of SMC contraction outside the aorta. In this case report, we present a patient with co-occurrence of persistent ductus arteriosus (PDA) and thoracic aortic dissection. Genetic analyses revealed a novel splice acceptor variant (c.3986-1G > A) in MYLK, which segregated with disease in the family. RNA-analyses on fibroblasts showed that the variant induced skipping of exon 24, which resulted in an in-frame deletion of 101 amino acids. These findings suggest that MYLK-associated disease could include a broader phenotypic spectrum than isolated TAAD, including PDA and obstructive pulmonary disease. Genetic analyses could be considered in families with TAAD and PDA or obstructive pulmonary disease.
Assuntos
Aneurisma da Aorta Torácica , Dissecção Aórtica , Azidas , Desoxiglucose/análogos & derivados , Permeabilidade do Canal Arterial , Canal Arterial , Pneumopatias Obstrutivas , Humanos , Masculino , Canal Arterial/diagnóstico por imagem , Canal Arterial/metabolismo , Canal Arterial/patologia , Linhagem , Dissecção Aórtica/genética , Permeabilidade do Canal Arterial/genética , Aneurisma da Aorta Torácica/diagnóstico , Aneurisma da Aorta Torácica/genética , Proteínas de Ligação ao Cálcio/genética , Quinase de Cadeia Leve de Miosina/genética , Quinase de Cadeia Leve de Miosina/metabolismoRESUMO
The current literature on the management of self-inflicted skin lesions points to an overall paucity of treatments with a high level of evidence (randomized controlled trials, controlled trials, or meta-analyses). In order to improve the communication between dermatologists and mental health professionals, the European Society for Dermatology and Psychiatry (ESDaP) recently proposed a classification of psychodermatological terms in order to establish a coherent use of terms across the medical fields involved. We reviewed current and previous psychodermatological diagnoses in order to clarify how the previous plethora of terms is covered by the new classification. This may aid physicians and mental health professionals in understanding how the new classification relates to the prior plethora of psychodermatological diagnoses and thereby facilitate the future use of the new classification.
