Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.

BACKGROUND: Gaucher disease (GD) is a rare lysosomal storage disorder classically subdivided into type 1 (non-neuronopathic) GD, and types 2 and 3 (neuronopathic) GD. It is typically characterized by clinical manifestations including anemia, thrombocytopenia, hepatosplenomegaly, bone lesions, and (in more severe forms) neurological impairment. However, less-commonly reported and often under-recognized manifestations exist, which potentially have a significant impact on patient outcomes. Greater efforts are needed to understand, recognize, and manage these manifestations. OBJECTIVES: This review provides a synthesis of published information about three under-recognized GD manifestations (pulmonary involvement, lymphadenopathy, and Gaucheroma) and recommends diagnostic, management, and treatment strategies based on the available literature and author experience. The authors aim to raise awareness about these serious, progressive, and sometimes life-threatening conditions, which are often diagnosed late in life. CONCLUSIONS: Little is known about the incidence, pathophysiology, prognostic factors, and optimal management of pulmonary involvement, lymphadenopathy, and Gaucheroma in patients with GD. Enzyme replacement therapy (ERT) has shown limited efficacy for the prevention and treatment of these manifestations. More research is needed to evaluate the potential effect of substrate reduction therapy (SRT) with glucosylceramide synthase (GCS) inhibitors, and to develop additional approaches to treat these GD manifestations. Improvements in data collection registries and international data-sharing are required to better understand the impact of these manifestations on GD patients, help develop effective management strategies, and, ultimately, improve patient outcomes.

Is PRP Effective in Reducing the Scar Width of Primary Cleft Lip Repair? A Randomized Controlled Clinical Study.

OBJECTIVE: To evaluate and analyze the effect of platelet-rich plasma (PRP) injection on the scar formed after unilateral complete cleft lip scar repair using a modified Millard technique. HYPOTHESIS: An unavoidable cheiloplasty scar is a result of the wound healing process that not only influences patient self-esteem for life but also affects muscle function. DESIGN: Blind, randomized, controlled clinical trial. PATIENTS: From December 2016 to February 2018, 24 patients with unilateral complete cleft lip undergoing primary cheiloplasties were equally assigned to study and control groups. INTERVENTION: All patients were treated by modified Millard cheiloplasty. In the study group, PRP was injected into the muscle and skin layers immediately after wound closure, while the control group patients were treated with no PRP injection. OUTCOMES MEASURES: Scar width was assessed after 6 months through the muscle using ultrasonography and at the skin surface via photographs. RESULTS: Scar width showed a significant improvement in the study group. CONCLUSIONS: Injection of autologous PRP provides effective improvement of cutaneous and muscular wound healing and decreases scar tissue formation.