Neurocutaneous melanosis with an intracranial cystic-solid meningeal melanoma in an adult:A case report and review of literature

BACKGROUND Neurocutaneous melanosis(NCM)is a rare congenital,nonhereditary neurocutaneous syndrome that mainly occurs in children;adult NCM is very rare.Due to its rarity,the clinical features and treatment strategies for NCM remain unclear.The purpose of this study was to explore the clinical features,diagnosis,treatment and prognosis of NCM in adults.Most intracranial meningeal melanomas are solid masses,and cystic-solid malignant melanomas are very rare.Due to the lack of data,the cause of cystic changes and the effect on prognosis are unknown.CASE SUMMARY A 41-year-old woman was admitted to the hospital with intermittent headache for 1 mo.Magnetic resonance imaging(MRI)showed a 4.7 cm×3.6 cm cystic-solid mass in the left temporal lobe with peritumoral edema.The entire mass was removed,and postoperative pathology indicated malignant melanoma.CONCLUSION MRI is the first-choice imaging approach for diagnosing central nervous system diseases in NCM patients,although cerebrospinal fluid may also be used.At present,there is no optimal treatment plan;gross total resection combined with BRAF inhibitors and MEK inhibitors might be the most beneficial treatment.

Neurocutaneous melanosis with intraspinal malignant melanoma in adults—an extremely rare clinical entity: A case report with review of literature

Objectives: Neurocutaneous melanosis(NCM) in adult patients was rare, and few cases had been reported. In this report, we summarized the features of NCM in adult patients for providing useful information about this rare clinical entity. Methods: In this report, we present a case of a 41-year-old woman, who was eventually diagnosed with NCM with intraspinal malignant melanoma. The clinical features,treatments, and prognosis of cases of NCM in adults were thoroughly reviewed and discussed. Results: A 41-year-old woman was eventually diagnosed with NCM with intraspinal malignant melanoma. The post-operative course was uneventful and her symptoms significantly improved(VAS: 3 points). However, she developed symptoms of intracranial hypertension and deteriorated rapidly after 11 months of operation, and died 1 month later. To date, only 15 cases of NCM in adults have been reported in the English literature. Analyses showed that the average age was 33.8 years(range19–65 years), and 11 patients(68.8%) were between 20 and 40 years. A slight male predominance(M:F/11:5) was found. For the 12 cases which detailed follow-up information was available, 9 patients(75%) died, with a survival time ranging from 1 day to 29 months post-operation. Death occurred within the first month of operation in 6 cases(46. 2%). The median survival time was 3 months. Conclusions: We presented a rare case of NCM with intraspinal malignant melanoma in an adult patient. Although rare, this clinical entity causes significant mortality and has poor prognosis.

神经纤维瘤病Ⅰ型

神经纤维瘤病Ⅰ型（neurofibromatosis type Ⅰ，NF Ⅰ）是一种神经皮肤综合征，表现为皮肤、软组织、骨骼、神经系统及内分泌系统的各种损伤，是原发于神经施万细胞及神经内、外束膜细胞的良性肿瘤，为常染色体显性遗传。

Distally based perforator sural flaps for foot and ankle reconstruction

Distally based perforator sural flaps from the posterolateral or posteromedial lower leg aspect are initially a neurofasciocutaneous flap that can be transferred reversely to the foot and ankle region with no need to harvest and sacrifice the deep major artery. These flaps are supplied by a perforating artery issued from the deep peroneal artery or the posterior tibial artery, and the chainlinked adipofascial neurovascular axis around the sural/saphenous nerve. It is a versatile and reliable technique for soft-tissue reconstruction of the heel and ankle region with 180-degrees rotation. In this paper, we present its developing history, vascular basis, surgical techniques including flap design and elevation, flap variations in pedicle and component, surgical indications, and illustrative case reports with different perforating vessels as pivot points for foot and ankle coverage.

Epileptogenesis in Sturge-Weber syndrome

Sturge-Weber syndrome(SWS)is a sporadic congenital neurocutaneous disorder characterized by facial port-wine stain,glaucoma and leptomeningeal angioma.It is hypothesized that somatic mutation in GNAQ(p.R183Q),which is associated with the disruption of vascular development,may be a possible mechanism of SWS.The neurological course of this disease may be progressive,and its major morbidity includes epilepsy,stroke-like episodes and intellectual retardation.The earlier the time point of the mutation,the severer the disease presents itself later in life.However,the relationship between SWS and epileptogenesis is still unknown.

A Case of Coexistence of Aplasia Cutis Congenita and Giant Congenital Melanocytic Nevus:Coexistence of Two Rare Skin Diseases

Aplasia cutis congenita(ACC)is a rare disease that is characterized by complete or partial absence of skin at birth,either in a localized or widespread region.Melanocytic nevi refers to tumor-like malformations of the skin or mucous membrane caused by benign proliferation of melanocytes.It is classified as a giant congenital melanocytic nevus(GCMN)when the diameter of the largest nevus exceeds 20 cm.The co-occurrence of ACC and GCMN is extremely rare,to the best of our knowledge.We report a case of coexistence of ACC and GCMN of infancy in a 2-month-old male infant.The lesions consisted of a large hyperpigmented plaque occupying most of the trunk and pelvic region,and smaller hyperpigmented plaques on the trunk,head,and extremities.Additionally,there were large,sharply marginated,triangular,depressed atrophic plaques covered by thin,translucent,glistening epithelial membranes in the center of the GCMN on the back.The presumptive diagnosis was coexistence of GCMN and ACC.This could be a manifestation of SCALP syndrome,a rare neuro-cutaneous condition characterized by the presence of Sebaceous nevus,Central nervous system(CNS)malformations,Aplasia cutis congenita,Limbal dermoid and Pigmented(giant melanocytic)nevus.

Sturge–Weber syndrome:an update for the pediatrician

Sturge–Weber syndrome(SWS)is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations.SWS usually presents as a facial port-wine birthmark,with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities.The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma.SWS is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling pathways.We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices,the latest pathophysiological insights,and the potential novel therapeutic avenues they provide.Data sources A narrative,non-systematic review of the literature was conducted,combining expert opinion with a balanced review of the available literature.A search of PubMed,Google Scholar and Embase was conducted,using keywords“Sturge–Weber Syndrome”OR“SWS”,“Capillary malformations”,“G protein subunit alpha 11”OR“G protein subunit alpha Q”.Results One of the hallmark features of SWS is the presence of a port-wine birthmark at birth,and forehead involvement is most indicative for SWS.The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma.Glaucoma presents in either in infancy(0–3 years of age)or later in life.Neurological complications are common in SWS,occurring in about 70%–80%of patients,with seizures being the most common one.SWS significantly impacts the quality of life for patients and their families,and requires a multidisciplinary approach for diagnosis and treatment.Currently,no disease-modifying therapies exist,and treatment is mostly focused on symptoms or complications as they arise.Conclusions SWS remains a complex and heterogeneous disorder.Further research is needed to optimize diagnostic and therapeutic strategies,and to translate insights from molecular pathogenesis to clinical practice.