RESUMEN
Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the FERMT3 gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion. So far, only limited cases of LAD-III have been reported. This case report discusses a two-year-old male infant from the Asir region, Saudi Arabia, who was referred to the pediatric hematology service due to recurrent ecchymosis and epistaxis. He was born at full term with a history of transient tachypnea of the newborn and recurrent bronchiolitis. The patient exhibited normal platelet count and coagulation profiles alongside a familial history of bleeding disorders, including a cousin with a similar condition. The patient also presented with hypospadias and café-au-lait spots. Laboratory findings revealed anemia, microcytosis, and hypochromia indicative of iron deficiency anemia. Whole exome sequencing (WES) identified a homozygous variant of uncertain significance in the FERMT3 gene, associated with autosomal recessive LAD-III. The patient was subsequently referred to an immunology subspecialty for further investigation and bone marrow transplant preparation. This case underscores the importance of comprehensive clinical and genetic evaluations in pediatric patients with unexplained bleeding tendencies.
RESUMEN
Keloids, benign fibrous growths resulting from atypical skin responses to injuries, present a complex challenge in dermatology. These lesions, characterized by excessive collagen production, often lead to physical discomfort and psychological distress. While various treatment methods exist, the lack of a universally effective modality underscores the need for a systematic evaluation of current approaches. This systematic review aims to comprehensively analyze the current available treatment modalities used for the management of keloids in the pediatric population in terms of their effectiveness, safety, and quality of life outcomes. The review adheres to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A comprehensive search was conducted on PubMed and Google Scholar databases to identify relevant studies published in English. The review specifically focused on randomized controlled trials involving patients under 18 diagnosed with keloids, assessing different treatment modalities, and reporting validated measures of treatment efficacy, safety outcomes, and quality of life. The risk of bias was assessed using Cochrane's Risk of Bias Tool for randomized studies to ensure the methodological quality of the included trials. Four studies met the inclusion criteria, collectively involving 196 pediatric patients. Treatment interventions included glucocorticosteroid and fusidic acid cream with silicone gel patches, botulinum toxin type A injections, and Scarban silicone gel sheets. Patient-reported outcomes exhibited varying degrees of improvement in scar size, vascularity, and pliability. Complications, such as rash and wound infection, were reported in some cases. Based on our review of the selected studies and due to the incompletely understood pathogenesis of keloids, there is an ongoing lack of universally effective treatment modality for the management of keloids resulting in their persistently high recurrence rate.