Identification and Validation of Key Genes in Giant Congenital Melanocytic Nevi by RNA Sequencing Analysis

Background Giant congenital melanocytic nevi (GCMNs) are melanotic lesion present at birth, which often cause severe psychological and financial burden to patients and their families.However, the pathogenes is still unclear. Objective We aim to identify key genes and biological processes that related to the development of GCMN. Methods We sequenced ten pairs of GCMN tissues and adjacent normal tissues by high-throughput RNA-seq, then used GO and KEGG analysis to find inportment pathways, and used MCODE,Cluego and Cytohubba plugin of Cytoscape software to identify hub genes. Results A total of 1163 differentially expressed genes were identified. 29 BPs, 18 CCs, and 17 MFs were significantly enriched in GO analysis and no pathway was significantly enriched in KEGG analysis. PPI Visual Network consisted of 779 nodes and 2359 edges,which was be divided into 25 functional modules by MCODE. We discovered most of the hub genes were located in module 5,and the top 3 hub genes (PTGS2,EGF,SOX10) in module 5 were involved in GO and KEGG enrichment pathways --“Arachidonic acid metabolism”,”glycosaminoglycan biosynthetic process”,”developmental pigmentation” respectively. Conclusion PTGS2, EGF and SOX10 are thought to be the three most important hub genes and may play essential roles in the development of GCMN.

Care of Congenital Melanocytic Nevi in Newborns and Infants: Review and Management Recommendations

A pediatric dermatology expert working group performed a narrative review to describe care related to congenital melanocytic nevi (CMN) in neonates and infants. There are no published guidelines for most aspects of care, including routine skin care and visit intervals. Few guidelines exist for surgical management; newer recommendations favor conservative practice. Emerging evidence contributes to recommendations for screening MRI to evaluate for neural melanosis and related central nervous system complications, however, more research is needed. Risk for melanoma is generally low, but those with large, giant, or multiple CMN have a higher risk. Multidisciplinary care, with a focus on family and patient preferences, is of paramount importance. Without standardized screening and management guidelines, questions abound regarding appropriate physical examination intervals, potential treatment including full or partial excision, timing and frequency of imaging, melanoma risk, and assessment for neural melanosis. This review highlights the current state of knowledge concerning care of patients with CMN, reveals gaps in the literature surrounding skin care, and provides management recommendations. We additionally discuss cutaneous complications of CMN, such as pruritus, hypertrichosis, and wound healing. Resources and references for families and providers can help patients navigate this sometimes challenging diagnosis. Finally, we contribute expert care recommendations to the current body of literature as a foundation for the development of future, more comprehensive care guidelines.

Neonatal Curettage of Large to Giant Congenital Melanocytic Nevi Under Local Anesthetic: A Case Series With Long-Term Follow Up

Background Neonatal curettage of large to giant congenital melanocytic nevi (L-GCMN) is a simple, minimally invasive procedure typically performed within the first 2 weeks of life. Objectives To retrospectively review our experience with serial curettage of L-GCMN in the neonatal period performed under local anesthesia and their long-term outcomes. Methods Curettage was performed by a single pediatric dermatologist on nine neonates with L-GCMN under local anesthetic and with oral analgesia between 2002 and 2016 in Red Deer, Alberta, Canada. Patient charts were reviewed retrospectively to assess patient and procedure characteristics, tolerability, safety, cosmetic and functional outcomes, and malignant transformation. Results Patients were treated with an average of 6 curettage sessions (range 3 to 15) to remove the majority or entirety of the nevus. All patients tolerated local anesthesia well. The most common adverse event of the procedure was transient neutropenia. Two patients developed positive bacterial cultures without clinical signs of infection, treated with antibiotics. All curetted specimens demonstrated benign pathology. Patients were followed annually thereafter, for an average of 6 years. Eight patients with L-GCMN of the trunk had minimal to partial repigmentation with good cosmetic outcome. One patient had recurrence of a facial nevus. None of the patients developed cutaneous malignant melanoma. Conclusions Curettage appears to be a safe and effective treatment option for select cases of L-GCMNs of the trunk. We do not recommend the procedure for face or scalp CMN. This procedure can be performed under local anesthesia with serial curettage to avoid potential risks of general anesthesia.

Giant congenital melanocytic nevi (garment variety): a case report

Giant congenital melanocytic nevi (GCMN) are large brown-to-black skin lesions caused due to genetic mutations which lead to defective proliferation, differentiation and migration of melanoblasts which are precursor cells of melanocytes. There is a mutation in the NRAS gene causing abnormal proliferation of embryonic melanoblasts. Congenital melanocytic nevus is primarily a clinical diagnosis. The malignant melanoma and neurocutaneous melanosis are the two major complications associated with GCMN. The risk of transformation of GCMN to malignant melanoma varies between 0 and 3.8%. About 1% of live births presents with a CMN. The incidence of GCMN is estimated at less than 1: 20,000 newborns. The variety ‘garment-like’ of GCMN is even scarcer, 1: 5,00,000. GCMN has got major psychosocial impact on the patient and his family due to its unsightly appearance. Treatment includes surgical and non-surgical procedures, psychological intervention and clinical follow-up, with special attention to changes in color, texture on the surface of the lesion. We presented a case of 1-day-old female neonate born with GCMN in our hospital.