An Enlarging Mass Superimposed on a Giant Congenital Melanocytic Nevus: A Case Report and Review of Literature.

Objective Present treatment in plastic surgery on giant congenital melanocytic nevus has always been a tough practice because it is difficult to achieve balance between effects and costs of treatment.This paper aimed to explore the concrete procedure of tangential excision and dermabrasion in treatment of adult giant congenital melanocytic nevus. Methods Taking into consideration pathological examination results before surgery,diseased regions,psychological expectancy and other factors,we used a humby knife or globe grinding head to remove giant congenital relanocytic nevus by wiping off the surface of it in 10 cases.After operation,the operated area of the skin underwent a process of healing in a moisturized state.In each case,surgical procedure was carried out by 1 2 sta ges,with the interval period ranges from 3 months to 6 months.Results One to 3 years follow-ups showed that among those cases,5 cases obtained good results in which skin color of surgical area turned to normal and pathological examination showed that nevus cells disappeared,4 cases achieved improvement,and 1 case was relapsed.Conclusions The two alternative methods for treatment of giant congenital melanocytic nevus,either tangential excision or dermabrasion,with combination of pathological examination results,diseased regions,and psychological expectancy should be taken into consideration,which can remain a maximum balance between effects and costs of treatments.Tangential excision and dermabrasion are effective in some cases of giant congenital nevus where traditional methods do not work,or in order to reduce the cost of body appearance in treatment.Therefore,these two methods deserve to be adopted extensively in clinical therapy.But it still needs further accumulation of experience in practice and longer period of follow-up after operation. Key words: Giant congenital melanocytic nevus; Tangential excision; Dermabrasion

BackgroundA giant congenital melanocytic nevus (GCMN) is found in 0.1% of live-born infants. If present, the lesion has a chance of about 6% to develop into malignant melanoma. Both children and adults can be affected by malignant melanoma arising in a giant congenital nevus. Up to 95% of GCMNs harbor NRAS mutations, and mutations in the BRAF, MC1R, TP53, and GNAQ genes have also been described. The individualization of therapy is required, but diagnostic and prognostic criteria remain controversial.Case presentationsWe report two cases: 1) melanoma arising in a giant congenital nevus during the first month of life complicated with neurocutaneous melanosis (NCM), and 2) melanoma arising in a giant congenital nevus during the first 6 months of life. Pathology, immunohistochemistry, and genetic analyses of tumor tissue were performed. The first case revealed only a non-pathogenic P72R polymorphism of the TP53 gene in the homozygote condition. For the second case, a Q61K mutation was detected in the NRAS gene.ConclusionMalignant melanoma associated with GCMN is rare and therefore poorly understood. Outcomes have been linked to the stage at diagnosis, but no additional pathological prognostic factors have been identified. The most frequent genetic event in giant CMNs is NRAS mutations, which was discovered in one of our cases. To accumulate evidence to improve disease prognosis and outcomes, children with congenital melanocytic nevus should be included in a systemic follow-up study from birth.

Giant or large congenital melanocytic nevi (CMNs) measuring more than 20 cm in diameter are present in 1 out of 20 000 newborns, with an estimated 6.3% lifetime risk of developing malignant melanoma. Approximately half of all melanomas that arise within a giant congenital nevus do so by 5 years of age. They occur most commonly on the posterior trunk but may also appear on the head or the extremities. Congenital pigmented nevi have been categorized by size: Giant congenital nevi are more than 20 cm in diameter; small congenital nevi are less than 2 cm in diameter; and intermediate nevi are in between in size. Giant nevi frequently lie in the distribution of a dermatome and will cover areas like an arm, leg, or a significant part of the trunk. These lesions are usually termed in a descriptive manner, for example, coat-sleeve, stocking, bathing-trunk, or giant hairy nevi. Giant hairy nevi are associated with neurological disorders. Nevi on the scalp and neck are associated with an increased incidence of leptomeningeal melanocytosis, epilepsy, and other focal neurological abnormalities. Those located over the vertebral column are associated with increased risk of spina bifida and meningomyelocele. The presence of ‘‘satellite’’ melanocytic nevi increases the risk of leptomeningeal involvement, particularly when located on the head or midline on the trunk. Nevus cells within the leptomeninges may cause increased intracranial pressure with subsequent hydrocephalus, seizures, and motor deficits. We describe a newborn with a bathing-trunk giant congenital pigmented nevus. Case Report

Giant congenital melanocytic nevi are a rare occurrence in the pediatric population. The risk of malignant transformation associated with these lesions has been well established; however, the management strategies for giant congenital nevi remain controversial. We report an unusual sclerodermoid reaction in a giant congenital nevus in a 6-week-old Caucasian girl. Given its abnormal clinical appearance, the entire lesion was excised. The histology was consistent with an atypical compound/sclerosing spindle and epithelioid cell congenital nevus. No evidence of malignant change was seen histologically. The incidence of malignant transformation in giant congenital nevi has been difficult to calculate. Review of the literature yields an incidence of between 4 and 9%, favoring surgical excision of these lesions where possible. Atypical presentations of giant congenital nevi are rare, and we have found no other reported cases with a stromal change similar to that seen in our patient. We hypothesize that this change may represent an atypical host reaction to the nevus cells.

Giant congenital melanocytic nevi carry a 5% to 10% lifetime risk of melanoma with a bimodal occurrence, peaking in early childhood and late adulthood.

Congenital melanocytic nevi are common birthmarks categorized by size as small, intermediate, large, and giant. Giant congenital melanocytic nevi

Giant congenital melanocytic nevi are benign nevomelanocytic proliferations of 20 cm or more in diameter, present at birth. They are primarily found on the posterior trunk, but they may arise on any other part of the body, covering more than 2% of the body surface. Giant congenital nevi are major risk factors for the development of melanoma, and the risk has been estimated to be as high as 5-7%. Persons with giant congenital melanocytic nevi on the head, neck and along the midline of the back are at increased risk for leptomeningeal melanocytic lesions. Most patients with neurocutaneous melanosis present with neurologic manifestations of the disease in the first 2 years of life. Melanoma occurs in 62-80% of cases, but even without neoplasms, symptomatic neurocutaneous melanosis has a poor prognosis. This is a report of a 23-year-old female patient who presented with multiple congenital pigmented and pilous nevi covering over 2% of her total body surface, without malignant alterations or association with other abnormalities. At birth, a nevus covered her neck, shoulders and the upper left arm, whereas several nevi over 5cm in diameter were present in the gluteal region, on the abdomen and legs. During the first 2 years of life, the existing nevi increased in size and progressed into darker brown. New, smaller pigmented changes appeared on the whole body and the face, while at the age of 17 they reached their current size and layout. At puberty, nevi over 10cm in size grew dark hairs. There were neither melanoma nor skin tumor cases in the family. Nuclear magnetic resonance imaging was not performed in the childhood or later in life, but other parameters - neurologic and ophthalmologic findings were in normal range all the time, as was growth and development. A complete photo-documentation was made, including macroscopic and dermoscopic images and regular follow-ups continue. Giant congenital melanocytic nevi may cause considerable esthetic and psychosocial problems. Due to their high malignant potential, association with other abnormalities, no consensus on the treatment, and monitoring problems, giant congenital melanocytic nevi represent a therapeutic problem as well.

Dear Editor: The malignant transformation of a giant congenital nevus (GCN) is extremely rare, and when it is discovered, the transformation may have already occurred during childhood. Benign proliferative nodules (PNs) in GCN may clinically and histologically mimic a malignant (MM), but clinically, PNs usually present at birth with multiple nodules, which is in contrast to MMs, and histologically, most patients with PNs do not present with the characteristics that are associated with malignancy, including mitotic activity, nuclear pleomorphism, and pagetoid spreading. Furthermore, even though some cases might display these features, they soon disappear1. A one-day-old female child presented with GCN on her lower abdomen, genitalia, anus, and legs. Prenatal ultrasonography revealed an imperforate anus, but no genital abnormalities. Dark brown plaques and some PNs that covered the involved areas were seen during a physical examination (Fig. 1). Satellite nevi were encountered on her scalp, axillae, and ankles. A diagnostic biopsy on a PN was performed, and the histological examination presented a proliferative dermal nodule in a GCN (Fig. 2A). The nevus cells had formed nests in the dermo-epidermal junction and the upper dermis (Fig. 2A, B). They were homogenous without nuclear atypia, pleomorphisms, mitoses, or pagetoid spreading into the epidermis. The melanocytic cells in the dermal nodule showed more dense cellularity than in the background lesion (Fig. 2C), and these cells were more pigmented and larger, and most of them were epithelioid cells that showed little pleomorphism and low-grade cytologic atypia. The features of necrosis were not found. All of these histological features was consistent with a benign PN within a GCN. Immunohistochemical analysis showed that the PN was positive for HMB45 (Fig. 2D), Melan A (Fig. 2E), and SOX-10 (Fig. 2F), which detect melanocytic tumors and Ki-67 protein of less than 2% (Fig. 2G). The patient was transferred to the plastic surgery department and she underwent a staged excision. Fig. 1 A giant congenital nevus with proliferative nodules on lower abdomen, genitalia, anus and lower legs. Fig. 2 (A) Histopathology of the proliferative nodule showed a proliferative dermal nodule in a giant congenital nevus (H&E, ×40). (B) Congenital nevus cells formed nests at the dermo-epidermal junction and upper dermis (H&E, ×200). ... Congenital nevi occur in 1% of newborn infants. Some authors have stated that GCN can be distinguished histologically from acquired nevi by the presence of nevoid cells in the lower two-thirds of the dermis1. Other authors have reported that the nevus cells subsequently migrate deeper into the dermis2. GCN has a 2%~42% risk of malignant transformation, and is associated with a 6%~14% lifetime risk of developing melanoma3. True congenital melanomas are very rare and they are supposed to develop secondary to the transplacental spread of maternal melanomas, arise de novo in uterus, present as prenatal growths on congenital nevi, or arise from neurocutaneous melanosis. A PN within a congenital nevus is also uncommon. Compared with congenital nevus cells, PN cells are larger and more pigmented, they have large nucleoli and a storiform pattern, and they can form nests. These cells have been called melanoma stimulant cells4. The etiology of them is unknown, and they may be a monoclonal proliferation of melanocytic cells. PNs within GCN grow rapidly, show satellitosis5, and they often bring up diagnostic difficulty. In a study of the cells in PNs in GCN, the cells showed high malignancy, but they did not present the typical antigens expressed in MMs, and their subsequent behavior was benign5. But, because the possibility of malignant transformation of this cells is unclear, surgical procedure is recommended to exclude congenital melanoma. We presented the current case to underline the development of benign PN within GCN and to suggest its differential diagnosis from congenital MM.

The congenital melanocytic nevi (CMN) are very rare, hyper pigmented macular lesions formed by overgrowth of the melanocytes and melanoblasts. This exists since birth and also named as bathing trunk, coat sleeve or stocking nevi. They occur in less than 1% of the neonates in any site of the body but commonly occur over the trunk and thigh areas. The giant congenital nevus is greater than 20 cm in size, pigmented and often hairy. Here, we are discussing a classical case of large congenital melanocytic nevus presented over right part of torso, lower limb, lower back and buttocks, with multiple satellite lesions all over body with right lower limb hypotrophy. The diagnosis was confirmed by histopathology. Apart from the rarity of the disease, this case report highlights the rare association of CMN with hypotrophy of limb.

Objective To explore the methods and the long-term outcome of composite skin graft with mesh acellular allogeneic dermal matrix(allo-ADM)and split thickness autogenous skin giant congenital melanocytic nevi in infants. Methods From January 2012 to February 2017 our department applied acellular allogeneic dermis matrix(allo-ADM)with split thickness autogenous skin to treat 55 Giant congenital melanocytic nevi in infants and children aged 3 months to 5 years and 10 months, an average age was 1 years and 2 months, the area of 1%-25% TBSA. There were 12 cases of head and face, 28 cases of trunk and 15 cases of limbs. In operation, giant congenital melanocytic nevi was totally or partially resected, and using allo-ADM and split thickness autogenous skin graft to cover the wounds. Pressured gauze was removed 2 weeks after surgery, and at the same time the cicatricial rehabilitation was performed. The follow-up point was at 3 months, 6 months, 1 year, 2 years, to observe composite skin′ color, softness, and pathological examination of giant nevus and composite skin after 1 years were performed. Results 2 weeks after transplantation the composite skin survival rate in 70%-100%; 38 cases were followed up for more than 2 years. For patients, over 1 years postoperatively, the composite skin presented soft and flexible, and the color were closed to the normal skin. Conclusions Acellular allogeneic dermis matrix with split-thickness autogenous skin to composite transplantation can effectively improve the appearance and function of giant congenital melanocytic nevi in infants and children, and avoid the scar formation due to the adoption of full thickness skin. The key is to ensure the early survival rate of composite skin graft. Key words: Melanocytic nevi; Cellular allogeneic dermal matrix; Infants

Objective To investigate the diagnosis and differential diagnosis of malignant transformation in children with giant congenital melanocyte nevus (GCMN). Methods The clinical features and results of various auxiliary examinations (including imaging and laboratory) from one GCMN child treated in the First Affiliated Hospital of Zhengzhou University in July 2017 were retrospectively analyzed. And related literature was reviewed. Results Results of imaging, pathology, bone marrow cytology, immunohistochemistry, flow cytology and other examinations and clinical symptoms were synthetically considered. As a result, this case was diagnosed with malignant GCMN with hepatic and bone-marrow metastases. Conclusions The diagnosis of bone marrow metastasis of malignant melanoma mainly depends on the morphological examination of bone marrow biopsy smear. The definite diagnosis of bone marrow metastasis of malignant melanoma depends on the comprehensive analysis of clinical symptoms, pathological diagnosis, cell morphology and cytochemical staining. Key words: Giant congenital melanocytic nevus; Bone marrow cytology; Pathology

Congenital melanocytic nevus – represents a benign proliferation of dermal melanocytes, which clinically is observed at birth or appears during the first weeks of life. Congenital nevi vary in size, macroscopic manifestations and histological characteristics [1], they appearing in about 1% of newborns. Most nevi are characterized by small size, but there are large (LCN) and giant congenital nevi (GCN) as well, which have a large area, and sometimes extend to the entire segment. GCN are relatively infrequent congenital malformation which under macroscopic study typically characterized by intense pigmentation and often can have a differently expressed hair cover [2].

Nodal melanocytic nevi are common incidental findings in lymph nodes that have been removed during sentinel lymph node biopsy for melanoma. They can also occur in the local lymph nodes of the giant congenital nevus (GCN), but very little is known regarding nodal melanocytic nevi in the giant congenital nevus, especially at the genetic level. There are two theories that explain the possible pathogenesis of nodal melanocytic nevi, mechanical transport and arrested migration during embryogenesis. However, there have been few tests of these two theories at the molecular biology level until now. We used whole-exon sequencing to test these two theories at the gene level for the first time. In clonal evolution analysis of patient 1, whose tumor mutation burden (TMB) value was relatively stable, showed that the GCN and nodal nevus had the same initial origin and then diverged into two branches as a result of gene mutations. In contrast, analysis indicated that in the other patient, whose TMB value declined from 68.02/Mb in a GCN to 17.55/Mb in associated nodal nevi, these two samples were from different origins at the beginning, each with its own gene mutation. These results are consistent with the two respective theories at the molecular biological level. We provided the first tests of the two theories of pathogenesis of nodal melanocytic nevi at the gene level, and these findings may provide some clues for further study. In addition, not all nodal nevi should be treated as lymph node metastasis in clinical diagnosis, and we should make a comprehensive assessment and judgment of nodal melanocytic nevi based on morphology, immunological characteristics and fluorescence in situ hybridization (FISH) tests.

BACKGROUND: The shortage of tissue for large defect reconstruction is a challenge for the plastic surgeon. Tissue expansion emerged in this context, and in the last 30 years has become one of the most widely used modalities in reconstructive surgery. Tissue expansion is a very versatile technique that can be performed in patients of all ages for the correction of different pathologies. The most common indications are burn sequelae and giant congenital nevus. The present study describes the indications and use of tissue expanders at the Hospital de Clínicas of Universidade Federal do Paraná. METHODS: Patients who underwent tissue expansion for reconstructive surgery between January 2005 and December 2009 were retrospectively reviewed. RESULTS: A total of 24 patients (70.8% female and 29.2% male) were analyzed. Ages ranged from 3 to 46 years old (average, 17.1 years). The most common indication for tissue expansion was the treatment of burn sequelae (62.5%), mainly in the head and neck. Alopecia was the second most prevalent indication (29.2%), followed by scar retraction in the neck (20.8%). Other indications were giant congenital melanocytic nevus (16.7%), Poland's syndrome (8.3%), abdominal scar (8.3%), and amastia (4.2%). Complications developed in 11 patients, and the highest incidence of complications, reported in 8 (72.7%) patients, was among those with burn sequelae as the primary pathology. The complications were infection, rupture, extrusion, wound dehiscence, and displacement of the expander. CONCLUSIONS: Tissue expansion is indicated for the treatment of several diseases among which burn sequelae is one of the most common indications.<br>INTRODUÇÃO: A escassez de tecidos para reconstrução de grandes defeitos é um desafio ao cirurgião plástico. Nesse contexto, surgiu a expansão tecidual, que, nos últimos 30 anos, se tornou uma das modalidades mais utilizadas na cirurgia reparadora. A expansão é uma técnica muito versátil, que pode ser realizada em todas as idades e para correção de diferentes afecções. As principais indicações são sequelas de queimadura e nevo congênito gigante. Este estudo teve como objetivo demonstrar as indicações na utilização dos expansores tissulares e sua evolução em pacientes do Hospital de Clínicas da Universidade Federal do Paraná. MÉTODO: Estudo retrospectivo, incluindo pacientes submetidos a expansão tecidual para cirurgia reconstrutora, no período de janeiro 2005 a dezembro 2009. RESULTADOS: Foram analisados 24 pacientes, sendo 70,8% do sexo feminino e 29,2% do sexo masculino. A idade variou entre 3 anos e 46 anos (média de 17,1 anos). A principal indicação de expansão tecidual foi o tratamento de sequelas de queimaduras (62,5%), principalmente na região da cabeça e do pescoço. Alopecia foi a indicação mais prevalente (29,2%), seguida por retração cicatricial em região cervical (20,8%). Outras indicações foram nevo melanocítico congênito gigante (16,7%), síndrome de Poland (8,3%), cicatriz abdominal (8,3%) e amastia (4,2%). Entre os pacientes avaliados, 11 evoluíram com alguma complicação, 8 (72,7%) dos quais tinham como doença primária sequela de queimaduras, demonstrando maior incidência de complicações em relação às outras indicações. As complicações encontradas foram: infecção, ruptura, extrusão, deiscência de sutura e deslocamento do expansor. CONCLUSÕES: A expansão tissular é indicada no tratamento de múltiplas doenças e uma das principais indicações continua sendo o tratamento de sequelas de queimaduras.

Proliferative (cellular) nodules (PN) which mimic malignant melanoma clinically and histologically are described in congenital melanocytic nevi (CMN) and may pose significant diagnostic challenges. We report the case of a 10-day-old male with a giant congenital nevus involving the neck, upper chest, back, and left shoulder containing several nodular lesions, some crusted. Biopsy of a nodule revealed densely packed nevus cells with hyperchromatic round to oval and occasionally irregularly shaped nuclei. There was no necrosis or pushing border, and the nodule blended with the adjacent nevus; however, the lesion demonstrated a significant number of mitoses (27 per mm2) and a 60% labeling index with Ki-67. Further analysis by fluorescence in situ hybridization (FISH) with a 4-color probe set targeting 6p25, 6q23, 11q13, and centromere 6 revealed increased chromosomal copy numbers of all 4 probes, which was interpreted as evidence of polyploidy. In addition, analysis of DNA copy number changes using a single nucleotide polymorphism microarray (Affymetrix, Santa Clara, CA) showed no chromosomal aberrations. The diagnosis of PN in a giant congenital nevus was eventually rendered. At 13-month follow-up, the nodules showed no evidence of growth. Our case illustrates that PNs in the neonatal period might demonstrate extreme mitotic activity. This feature is worrisome when encountered in melanocytic lesions; however, it should not trigger by itself a diagnosis of melanoma in the absence of other histologic criteria of malignancy. In addition, we document polyploidy by FISH in PN, which can potentially be misinterpreted as a FISH-positive result.