An update on congenital melanocytic nevus syndrome: A case report and literature review.

Congenital melanocytic nevus syndrome (CMNS) is a rare condition characterized by pigmented skin lesions that are usually present at birth and are associated with an increased risk of neurological abnormalities and malignant melanoma. It mostly results from a post-zygotic NRAS mutation of neural-derived crest cells, leading to uncontrolled cell growth. Because of the increased knowledge of the genetics underlying CMNS, targeted therapy becomes a promising treatment option. We present a case of CMNS in a newborn. Physical examination at birth showed a giant congenital melanocytic nevus, extending from the occipital to the lower lumbar region. A magnetic resonance imaging scan revealed multiple cerebral and cerebellar parenchymal lesions. Genetic analysis of the cutaneous lesions showed the presence of an NRAS Q61R mutation. The patient was treated with dermabrasion to reduce the color intensity of the nevus. However, this was complicated by recurrent wound infections and laborious wound healing. At the age of 1 year, the patient had an age-appropriate psychomotor development, without neurological deficits.

SurLym trial: study protocol for a multicentre pragmatic randomised controlled trial on the added value of reconstructive lymphatic surgery to decongestive lymphatic therapy for the treatment of lymphoedema.

INTRODUCTION: Lymphoedema is a chronic condition caused by lymphatic insufficiency. It leads to swelling of the limb/midline region and an increased risk of infection. Lymphoedema is often associated with mental and physical problems limiting quality of life. The first choice of treatment is a conservative treatment, consisting of exercises, skin care, lymph drainage and compression. Reconstructive lymphatic surgery is also often performed, that is, lymphovenous anastomoses, lymph node transfer or a combination. However, robust evidence on the effectiveness of reconstructive lymphatic surgery is missing. Therefore, the objective of this trial is to investigate the added value of reconstructive lymphatic surgery to the conservative treatment in patients with lymphoedema. METHODS AND ANALYSIS: A multicentre randomised controlled and pragmatic trial was started in March 2022 in three Belgian university hospitals. 90 patients with arm lymphoedema and 90 patients with leg lymphoedema will be included. All patients are randomised between conservative treatment alone (control group) or conservative treatment with reconstructive lymphatic surgery (intervention group). Assessments are performed at baseline and at 1, 3, 6, 12, 18, 24 and 36 months. The primary outcome is lymphoedema-specific quality of life at 18 months. Key secondary outcomes are limb volume and duration of wearing the compression garment at 18 months. The approach of reconstructive lymphatic surgery is based on presurgical investigations including clinical examination, lymphofluoroscopy, lymphoscintigraphy, lymph MRI or CT angiography (if needed). All patients receive conservative treatment during 36 months, which is applied by the patient's own physical therapist and by the patient self. From months 7 to 12, the hours a day of wearing the compression garment are gradually decreased. ETHICS AND DISSEMINATION: The study has been approved by the ethical committees of University Hospitals Leuven, Ghent University Hospital and CHU UCL Namur. Results will be disseminated via peer-reviewed journals and presentations. TRIAL REGISTRATION NUMBER: NCT05064176.

Treatment of rectus diastasis: should the midline always be reinforced with mesh? A systematic review.

BACKGROUND: Two main trends are described for the treatment of diastasis recti: plication versus midline mesh reinforcement. Indications for these procedures have not been clearly described. This study reviewed the outcomes in the treatment of rectus diastasis with plication versus mesh by the assessment of durability, complications, and patient-reported outcomes. MATERIALS AND METHODS: A systematic review of literature on the treatment of diastasis recti was performed searching through PubMed, Embase, Web of Science, and Cochrane databases. This resulted in 53 eligible articles and predefined inclusion criteria led to the selection of 24 articles. Primary outcomes included recurrence and perioperative complications and secondary outcomes were defined as patient satisfaction, chronic pain, and quality of life. RESULTS: A total of 931 patients were surgically treated for rectus divarication (age range: 18 - 70 years). The most frequently noted comorbidity was obesity and 10.6 percent were smokers. Recurrence was reported in 5 percent of the patients. The most frequent complication was seroma (7 percent), followed by abdominal hypoesthesia (6 percent), and surgical site infection (2 percent). Chronic pain was reported in 4 percent of the patients. Satisfaction was assessed subjectively in the majority of patients and was generally rated as high. Follow-up period ranged from 3 weeks to 20 years. CONCLUSIONS: Durability, safety, and high patient satisfaction support surgical correction of rectus diastasis and could not favor a treatment method. Inter-rectus distance could not be identified as the indicator for technique, which emphasizes that other factors might add to the entity of abdominal wall protrusion more than previously thought.

Successful forearm prosthesis fitting in a patient with epidermolysis bullosa dystrophica: Case report.

BACKGROUND: Epidermolysis bullosa dystrophica is a rare dermatological disease characterized by extreme skin fragility and elevated risk of developing a squamous cell carcinoma. In some cases, amputation of a limb is necessary. Case description and methods: A 37-year-old man with recessive, severe generalized epidermolysis bullosa dystrophica developed a squamous cell carcinoma on the right forearm requiring a below-elbow amputation. Preoperative advice concerning indication and level of amputation was given. Due to potential skin problems, a conventional prosthesis was not feasible. Findings and outcomes: A custom-designed adaptive prosthesis with an upper arm cuff was trialed and was well tolerated. Multiple working tools, attached with a rotation and inclination system, allowed independence and return to work. CONCLUSION: Despite multiple potential skin problems of the stump, the patient was successfully fitted with a custom-designed adaptive prosthesis. Preparation for this fitting was done by a comprehensive multidisciplinary patient-centered approach. Clinical relevance Despite severe skin fragility, a patient with epidermolysis bullosa dystrophica was successfully fitted with a custom-designed adaptive upper limb prosthesis allowing good functional outcome. This required a multidisciplinary and patient-centered approach.

Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report.

PURPOSE: To report a case of ablepharon-macrostomia syndrome and surgical treatment options. METHODS: Case report and literature review. RESULTS: A prematurely born male baby presented with severe ablepharon, hypertelorism, macrostomia, low-set dysplastic ears, broad nasal bridge, coarse and redundant body skin, absent scalp and body hair, lax abdominal wall, absent nipples, camptodactyly, and ambiguous genitalia. Despite intensive ocular lubrication, severe exposure keratopathy developed within the first days after birth. The eyes were closed using masquerade flaps for 6 weeks. In a secondary procedure at the adjusted age of 3 weeks, the flaps were partially divided, and visual input and development were successfully achieved, while maintaining corneal protection. CONCLUSIONS: We present a rare case of a prematurely born infant with a severe phenotype of ablepharon-macrostomia syndrome, surgically treated with masquerade flaps to preserve corneal health and allow bilateral visual input.