RESUMO
Mönckeberg's disease, a rare medial calcific arteriosclerosis, predominantly affects lower extremity arteries with an unclear etiology. If untreated, severe complications like ischemic necrosis and gangrene may arise. We present a case of a 28-year-old male with spontaneous lower limb swelling, abscess, and itching. Despite a history of deep vein thrombosis and warfarin therapy, Mönckeberg's disease was suspected. Imaging revealed diffuse vascular calcification of the media of the arterial wall bilaterally in the right and left femoral vessels with heterogenous irregular soft tissue collection in the right with suspected infection. Following treatment, the patient's symptoms improved, and follow-up imaging showed resolution of fluid collections and improved calcification appearance. This report highlights the importance of considering Mönckeberg's disease in the differential diagnosis of lower extremity swelling and the need for timely management to prevent serious complications.
RESUMO
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) is a progressive multi-systemic autosomal recessive disease resulting from a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase). Here we report the case of a three-year-old male child born full-term via normal vaginal delivery. He had frequent admissions due to a chest infection that started at two months of age. At the age of 23 months, he was admitted after complaining of shortness of breath (SOB) due to asthma and aspiration pneumonia; additionally, dysmorphic features were noticed (single palmar crease, short round toes, coarse facial features such as a flat nose, big lips). A genetic study showed mucopolysaccharidosis VI (MPS VI). At three years of age, he was complaining of cough and SOB. Examination showed wheezing all over the chest, normal first and second heart sounds (S1 and S2), a murmur with no clicks, hepatosplenomegaly, and a palpable left kidney. However, the central nervous system (CNS) and eye examinations were normal. Echocardiography revealed a thickened bicuspid aortic valve, mild aortic regurgitation, and mitral regurgitation. Therefore, the patient presented with different clinical symptoms of MPS VI. It is important to increase the physicians' awareness about MPS by focusing on increasing the probability of MPS as a differential diagnosis whenever patients present with abnormal appearance, limb deformities, and recurrent unexplained infections; hence, making early diagnosis and treatment decisions, leading to a slowing down of the progression of the disease and enhancing the patient's quality of life.
RESUMO
The off-label use of botulinum toxin type-A (BoNT-A) in treating rosacea seems encouraging, but the evidence is still lacking regarding its efficacy and safety. This study was conducted to summarize the evidence regarding the efficacy and safety of BoNT-A in the treatment of rosacea patients. A comprehensive literature search was conducted in several databases, and 17 studies were included. Before-after and split-face comparisons showed that BoNT-A significantly alleviated the symptoms of facial erythema and flushing and improved the patient's quality of life/satisfaction. However, the symptoms recurred three to six months post-injection, requiring repeated treatments in some patients. The pooled rates of post-injection localized erythema, ecchymosis, and facial muscle affection represented 24.6%, 5.1%, and 4.3%, respectively. BoNT-A seems to be effective in alleviating the symptoms of rosacea with a low rate of adverse events. However, the recurrence of the symptoms a few months after the injection requires repeated sessions, which may raise cost-effectiveness issues. Large-scale clinical trials are required to confirm the effectiveness and define the optimal dosing regimen and the rate of recurrence. Future studies should allow for an adequate follow-up after the treatment, with repeated measurements of the outcomes.
