Introduction: Neonatal and infantile malignant melanoma is rare. It may be difficult to diagnose and often carries a poor prognosis.
Material And Methods: We decided to review the data on congenital, neonatal and infantile malignant melanomas in order to understand their presentation (clinical, histological, molecular), diagnosis, management and outcomes. We performed a literature search of all cases of early-onset melanoma published in PubMed from its inception to March 2019 using the following keywords: "malignant melanoma" OR "melanoma" OR "pigmented nevus" OR "malignant pigmented" AND "infantile" OR "congenital" OR "children" OR "childhood" OR "infancy" OR "neonatal". Congenital melanoma associated with maternal-foetal transmission was not included in the study.
Results: Sixty-five articles were selected and 85 cases were included in the study. Most patients were male (sex ratio: 1.6). The average age at diagnosis was 5.5 months (minimum-maximum: 0-24 months). The main site reported for congenital melanoma was the head-and-neck area and for neonatal and infantile melanoma the trunk. Half of all patients had a metastatic disease at the time of diagnosis. In metastatic cases, the prognosis was poor with the exception of patients undergoing complete excision of the tumour and metastases. The main treatment for cutaneous melanomas and operable metastasis was surgery, and secondarily, chemotherapy/immunotherapy.
Conclusion: Neonatal and infantile malignant melanoma are rarely reported and not well-documented. It is necessary to collect additional cases to improve our knowledge of this rare disease.
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http://dx.doi.org/10.1016/j.annder.2020.05.001 | DOI Listing |
Int J Mol Sci
December 2024
Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.
Pathogenic variants are associated with neonatal epilepsies, ranging from self-limited neonatal epilepsy to -developmental and epileptic encephalopathy (DEE). In this study, next-generation sequencing was performed, applying a panel of 142 epilepsy genes on three unrelated individuals and affected family members, showing a wide variability in the epileptic spectrum. The genetic analysis revealed two likely pathogenic missense variants (c.
View Article and Find Full Text PDFBMC Anesthesiol
January 2025
Department of Anesthesia, ICU & Pain, Faculty of Medicine (Boys), Al-Azhar University, Cairo, Egypt.
Background: Endotracheal intubation (ETI) is a life-saving procedure that must be accurately carried on to guard against complications. Presbyopia leads to difficulty in viewing close objects and may obstacle proper intubation even with the best hands.
Purpose: This study supposed that the use of video-laryngoscope (VL) may provide better intubation conditions for presbyopic anesthetists and targets to evaluate the neonates and infants' intubation success rates (ISR) by anesthetists aged ≥ 45 years using the C-MAC VL compared to the standard laryngoscope (SL).
Int J Surg Case Rep
January 2025
Department of Public Health and Infectious Diseases, Faculty of Medicine, Herat University, Herat, Afghanistan; Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, Western University, London, ON, Canada.
Introduction: This case report presents a rare occurrence of Type III Congenital Paraesophageal Hiatal Hernia (CPEHH) with Infantile Hypertrophic Pyloric Stenosis (IHPS) in a 28-day-old neonate. However, this unusual combination poses significant diagnostic and surgical challenges.
Presentation Of Case: A 28-day-old male presented with respiratory distress and persistent vomiting.
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center, Ankara University Faculty of Medicine, Ankara, Türkiye.
Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the or genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Plastic Surgery, Jiangxi Provincial Children's Hospital, 1666 Diezihu Avenue, Nanchang, China.
The objective of this study was to evaluate the efficacy and safety of propranolol hydrochloride tablets and oral solution in neonates with severe IHs. A retrospective cohort study included 184 consecutive neonates diagnosed with severe IHs and treated with propranolol from January 2016 to June 2023. Of these, 126 patients received propranolol tablets, and 58 received propranolol oral solution.
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