Giant Melanocytic Nevus Research Articles

The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report

BackgroundNeurofibromatosis type 1 (NF1) is a multisystem genetic disorder that commonly involves skin, nerves, and skeletal system with increased neoplastic predisposition. This disease has been rarely associated with multiple congenital anomalies. Herein, we describe an Egyptian child with NF1 and coexistent bilateral congenital glaucoma, giant congenital melanocytic nevi (GCMN), alopecia, and hypospadias.Case presentationA 2.5-year-old boy presented with developmental delay, back swelling, and multiple congenital anomalies. His father and two sisters were known to have NF1. The child was diagnosed with bilateral primary congenital glaucoma at the age of 3.5 months and underwent trabeculectomy with mitomycin C therapy. Examination at the age of 5 months revealed marked hypotonia, multiple GCMN, scanty café-au-lait macules, left upper eyelid plexiform neuroma and trichomegaly, hypertrichosis of left eyebrow, hypertelorism, depressed nasal bridge, left frontal scalp alopecia, and distal penile hypospadias. At the age of 8 months, brain imaging depicted a markedly dilated left lateral ventricle, and he underwent ventriculoperitoneal shunt surgery. The child developed back swelling at the age of 2.5 years, and a spinal magnetic resonance image showed bilateral multiple spinal neurofibromas in the paraspinal region with intraspinal extensions. A whole exome sequencing identified a heterozygous missense variant NM_001042492.3:c.1466A > G (NP_001035957.1:p.Tyr489Cys) in NF1 gene.ConclusionsThe present case report adds to the knowledge of the phenotypic spectrum and variability of NF1 by reporting the association of multiple unusual congenital anomalies. Importantly, such congenital anomalies could be the first presenting features in patients with NF1 since cafe´-au-lait macules and other typical diagnostic criteria may not be apparent in the neonatal period and early infancy. Accordingly, NF1 should be considered in newborns with congenital glaucoma, GCMN, scalp alopecia, and hypospadias.

Congenital Melanocytic Nevus: An Unusual Presentation

The overgrowth of melanocytes produces congenital melanocytic nevus. They are commonly present since birth, and the common terms used to describe them are called 'bathing trunk,' 'coat-sleeve,' or 'stocking naevi,' and they are usually found over thighs and back. The giant congenital nevus of size larger than twenty centimeters is highly pigmented and usually hairy. It is more commonly found in females compared to males. It is well recognized that the lesion's displeasing nature might have psychological and social ramifications, negatively affecting the patient's self-esteem, particularly females. Although congenital melanocytic nevus is mostly clinically diagnosed, the histological investigation is required to confirm the diagnosis and rule out malignant changes. The likelihood of transforming the giant nevus to malignant melanoma accounts for approximately five percent; fifty percent of melanomas develop before age two, and eighty percent develop before age seven. The risk of transformation to malignant melanoma is early in giant melanocytic nevus cases and adolescence in small and medium-sized nevi cases. Other complications like transformation to neurocutaneous melanosis consisting of the spread of melanoma to the central nervous system and leptomeninges are also dreadful. Hence, early removal is recommended. Here, we have reported a rare case of a six-year-old patient with a medium-sized nevus on their face with hairy tufts in between. On biopsy, the diagnosis was made as a junctional nevus. After which, the patient was managed with subsequent lesion excision and split skin grafting with an uneventful postoperative period. Our case report aims to report a rare case of congenital melanocytic nevus and to determine the importance of timely diagnosis and intervention. Keywords: , , , ,

Giant Congenital Melanocytic Nevus Correction: A Case Report

<h3>Abstract</h3> Giant congenital melanocytic nevi are usually an aesthetic challenge, especially in very exposed areas of the body. A multidisciplinary approach is suggested to achieve the best result for surgical management and long-term follow-up of these lesions. We present a patient with a frontoparietal giant melanocytic congenital nevus where reconstructive surgical treatment was thanks to the joint efforts between a plastic surgeon, who performed a partial excision W-plasty to re-create a hairline, and a hair restoration surgeon, who performed preview long hair FUE to achieve optimal scalp-nevus coverage.

PERFIL EPIDEMIOLÓGICO E CLÍNICO DE CRIANÇAS COM NEVO MELANOCÍTICO CONGÊNITO GIGANTE EM UM SERVIÇO DE DERMATOLOGIA

ABSTRACT: Objective: to describe five children with Congenital Giant Melanocytic Nevus (NMCG) at the Dermatology Service at the State University of Pará in Belém - PA, Brazil. Case description: patients aged 1 to 11 years, four of whom were female, all of them brown, in good nutritional status, prenatal without complications, and denied consanguinity. The five cases presented lesions on the trunk, with different distribution patterns: swimming trunks (1), body (1), back (1), and bolero (2), most with more than fifty satellite lesions containing hypertrichosis and pruritus. In the histopathological analysis, all of them were compatible with a nevus, one of the cases was associated with a neurofibroma, two with neurocutaneous melanosis and one with melanoma in the brain, evolving to death. Comments: Congenital Giant Melanocytic Nevus is a rare condition, defined by the presence of a melanocytic lesion, measuring at least 20 cm, present since birth. It has its clinical relevance due to the association with serious complications such as melanoma and / or neurocutaneous melanosis. The registration of this series aims to contribute to greater knowledge about the disease, which has physical, psycho-emotional, social, and risk of malignancy implications.

Perfil epidemiológico e clínico de crianças com nevo melanocítico congênito gigante em um serviço de dermatologia

OBJECTIVE: to describe five children with Congenital Giant Melanocytic Nevus (NMCG) at the Dermatology Service at the State University of Pará in Belém - PA, Brazil. CASE DESCRIPTION: patients aged 1 to 11 years, four of whom were female, all of them brown, in good nutritional status, prenatal without complications, and denied consanguinity. The five cases presented lesions on the trunk, with different distribution patterns: swimming trunks (1), body (1), back (1), and bolero (2), most with more than fifty satellite lesions containing hypertrichosis and pruritus. In the histopathological analysis, all of them were compatible with a nevus, one of the cases was associated with a neurofibroma, two with neurocutaneous melanosis and one with melanoma in the brain, evolving to death. COMMENTS: Congenital Giant Melanocytic Nevus is a rare condition, defined by the presence of a melanocytic lesion, measuring at least 20 cm, present since birth. It has its clinical relevance due to the association with serious complications such as melanoma and / or neurocutaneous melanosis. The registration of this series aims to contribute to greater knowledge about the disease, which has physical, psycho-emotional, social, and risk of malignancy implications.

Congenital Giant Melanocytic Nevus with Meningeal Melanocytosis in a Term Neonate- A Case Report

Congenital giant melanocytic nevus presenting in the neonatal period is a clinical diagnosis, but the extra dermatology manifestations require early recognition. Meningeal melanocytosis is one such association which increases the risk of epilepsy. We report a neonate with large congenital melanocytic nevus over the torso with satellite lesions presenting with meningeal melanocytotic in the right parietal and cerebellar region. We discuss the clinical course, management and review the literature on this condition.

Giant Melanocytic Nevus with Multiple Hemangiomas of the Scalp and Recurrent Lobular Capillary Hemangioma

Giant Melanocytic Nevus with Multiple Hemangiomas of the Scalp and Recurrent Lobular Capillary Hemangioma

Oral Mukozanın Gingival Fibromatozisli Dev Melanositik Nevüsü

The purpose of this case report is to present this rare subtype of oral nevus, which has a rare location and size. A 45-year-old female patient was referred to our clinic for periodontal disease. Clinical examination revealed a large pigmented lesion on the buccal mucosa and gingival hyperplasia was also detected. The differential diagnosis was hemangioma and malignant melanoma. No pulsation was noted on palpation. Multiple biopsies were obtained at different times and sites of the lesion. The specimens were compatible with a melanocytic nevus and gingival fibromatosis. A giant melanocytic nevus with gingival fibromatosis of the oral mucosa is a rare condition. Clinicians should be careful in clinical examination in such cases and make differential diagnosis for appropriate biopsy and treatment.

Neurocutaneous melanoma in association with giant congenital melanocytic nevi in a child (Touraine syndrome) – A dermatoradiological correlation

Touraine syndrome or neurocutaneous melanosis/melanoma is a rare melanophakomatosis characterized by extensive/multiple congenital melanocytic nevi associated with cerebral/meningeal melanosis or melanoma. We report a 12-year-old boy with a congenital giant melanocytic nevus on the bathing trunk distribution with scattered lesions on the face, neck, and legs. MRI brain revealed a melanoma in the right amygdala.

Management of Congenital Melanocytic Nevus on Face Using Multiple Re-expansion Method: Aesthetic and Psychosocial Results.

Congenital giant melanocytic nevus on the face is a challenging condition, especially in the pediatric population. It can produce significant cosmetic deformity with negative psychosocial effects in pediatric patients even after treatment. The objective of this study was to report aesthetic and psychosocial results in the management of congenital melanocytic nevus on the face using multiple reexpansion. Data of 6 patients with congenital melanocytic nevus on the face who underwent excision and multiple reexpansion at our center from September 2004 to August 2017, were retrospectively reviewed. To evaluate aesthetic outcomes, preoperative and final photographs of each patient were reviewed by 3 other plastic surgeons and 4 laypersons. For comparison, 6 other patients who were treated with conventional surgery during the same period were reviewed. After final reconstruction surgery, the authors surveyed patients' satisfaction via telephone. Six patients were followed up for an average of 87.66 months (range, 55-123 months). The mean number of tissue expander insertions was 3.33 and the mean number of total expanders inserted was 4.83. Complication associated with expander exposure occurred in 1 patient during the fifth expansion. The average score of aesthetic outcome in the multiple reexpansion group was superior to that of the conventional group (2.60 versus 2.10, P = 0.03). During the telephone survey, patients did not rate their appearance as positive, although they were comparatively satisfied with the surgical procedure. Considering the low rate of malignancy involving congenital melanocytic nevus in childhood, multiple reexpansion is an attractive option to obtain better results compared with other reconstructive methods.

Giant melanocytic nevi and soft tissue undergrowth in the left leg: Pathogenetic hypothesis.

Congenital melanocytic nevi (CMN) are observed frequently in children. The anomalous skin shows a widely variable clinical expression not only in the anatomic location, but also in color, morphology and superficial structure. According to the width CMN are distinguished in small, medium, large or giant. Aside the cosmetic problem and its psychological implications, CMN may present with severe complications consisting of malignant transformation and/or central nervous system involvement. We report on a 3-month old infant with an extensive CMN in the left leg, which extended from the lower portion of the knee to the foot, with satellite nevi. Concomitant with the extensive nevi in the same district a remarkable reduction in size was present, and involved the adipose and muscle tissues, contributing to a counterpart diameter difference of 5 cm, without bone involvement. Melanocytic nevi and soft tissue undergrowth in the leg is a usual association; a pathogenic explanation on the anomaly involving concomitantly the skin and the underneath soft tissues is advanced.

NEUROFIBROMATOSIS TYPE 1 OR GIANT MELANOCYTIC NEVUS: PROBLEMS OF DIAGNOSTIC

Neurofibromatosis type 1 (NF-1) is a hereditary disease mainly affecting skin and peripheral nervous system. Individual signs of cutaneous manifestations of NF-1 can imitate or be combined with other neurocutaneous syndromes. At present on the outpatient phase is not always possible to conduct a detailed examination of the patients with NF-1 and to determine the indications for modern diagnostic examination in a specialized hospital. It can be important to verify the diagnosis. The authors presented short review of russian and foreign literature and clinical case of the patient with a specific lesion of the skin against the background of congenital giant melanocytic nevus. Problems of differential diagnosis of NF-1 and congenital giant pigmented nevus were analyzed.

The categories of cutaneous mosaicism: A proposed classification.

Mosaic disorders can most easily be studied in the skin. This article presents a comprehensive overview of the different forms of cutaneous mosaicism. Major categories are genomic versus epigenetic mosaicism and nonsegmental versus segmental mosaicism. The class of nonsegmental mosaics includes single point mosaicism as exemplified by solitary benign or malignant skin tumors; disseminated mosaicism as noted in autosomal dominant tumor syndromes such as neurofibromatosis 1; and patchy mosaicism without midline separation as found in giant melanocytic nevus. The class of segmental mosaics includes segmental manifestation of lethal genes surviving by mosaicism as noted in Proteus syndrome; type 1 segmental mosaicism of autosomal dominant skin disorders reflecting heterozygosity for a postzygotic new mutation; type 2 segmental mosaicism of autosomal dominant skin disorders reflecting loss of heterozygosity that occurred at an early developmental stage in a heterozygous embryo; and isolated or superimposed segmental mosaicism of common polygenic skin disorders such as psoriasis or atopic dermatitis. A particular form of genomic mosaicism is didymosis (twin spotting). Revertant mosaicism is recognizable as one or more areas of healthy skin in patients with epidermolysis bullosa or other serious genodermatoses. The category of epigenetic mosaicism includes several X-linked, male lethal disorders such as incontinentia pigmenti, and the patterns of lyonization as noted in X-linked non-lethal disorders such as hypohidrotic ectodermal dysplasia of the Christ-Siemens-Touraine type. An interesting field of future research will be the concept of epigenetic autosomal mosaicism that may explain some unusual cases of autosomal transmission of linear hypo- or hypermelanosis.

Giant congenital melanocytic nevus of the face. A clinical case report

This article describes a rare case of congenital anomalies: giant melanocytic nevus of the face. Errors in the choice of treatment strategy of children with this disease and their complications can lead to poor aesthetic and functional results. When choosing a method of plastic eliminate defects formed after removal of nevi, it is necessary to take into account anatomical features of the maxillofacial region. The department developed the scheme of complex treatment of these patients. Surgical treatment in combination with massage and myogymnastics, regular medical observation, provides a good aesthetic results. Integrated approach in the treatment of children with giant nevi of the face allows for an early medico-social rehabilitation of children with this pathology.

Giant congenital melanocytic nevi: selected aspects of diagnostics and treatment.

BackgroundTreatment of giant melanocytic nevi (GMN) remains a multidisciplinary challenge. We present analysis of diagnostics, treatment, and follow-up in children with GMN to establish obligatory procedures in these patients.Material/MethodsIn 24 children with GMN, we analyzed: localization, main nevus diameter, satellite nevi, brain MRI, catecholamines concentrations in 24-h urine collection, surgery stages number, and histological examinations. The t test was used to compare catecholamines concentrations in patient subgroups.ResultsNine children had “bathing trunk” nevus, 7 had main nevus on the back, 6 on head/neck, and 2 on neck/shoulder and neck/thorax. Brain MRI revealed neurocutaneous melanosis (NCM) in 7/24 children (29.2%), symptomatic in 1. Among urine catecholamines levels from 20 patients (33 samples), dopamine concentration was elevated in 28/33, noradrenaline in 15, adrenaline in 11, and vanillylmandelic acid in 4. In 6 NCM children, all catecholamines concentrations were higher than in patients without NCM (statistically insignificant). In all patients, histological examination of excised nevi revealed compound nevus, with neurofibromatic component in 15 and melanoma in 2. They remain without recurrence/metastases at 8- and 3-year-follow-up. There were 4/7 NCM patients with more than 1 follow-up MRI; in 1 a new melanin deposit was found and in 3 there was no progression.ConclusionsEarly excision with histological examination speeds the diagnosis of melanoma. Brain MRI is necessary to confirm/rule-out NCM. High urine dopamine concentration in GMN children, especially with NCM, is an unpublished finding that can indicate patients with more serious neurological disease. Treatment of GMN children should be tailored individually for each case with respect to all medical/psychological aspects.

Giant Congenital Cerebriform Melanocytic Nevus of the Scalp in Adult

Congenital melanocytic nevi are defined as benign nevomelanocytic proliferation present at birth. They are rare lesions and occur in approximately 1% of new-borns and are usually classified according to their size. We report a case of 32 year old female who presented with a giant cerebriform lesion of the scalp which was present since birth. Diagnosis of Giant congenital melanocytic nevi was made on the basis of definite histological criteria. Wide excision of the lesion was done with split skin graft. This case is unique due to the fact that this young female lived with this disfiguring lesion for 3 decades and never consulted any physician for cosmetic purpose and fortunately the lesion never turned malignant.

Congenital giant melanocytic nevi – tip of the iceberg

Congenital Giant Melanocytic Nevus (CGMN), pigmented lesion present since birth, occurs in 1 % of infants worldwide. Fifteen percent of CGMN are localized in the head and neck region and it can also have a bathing trunk distribution. It grows proportionally to the size of the body as the child matures and grows with variation in colour and surface texture. A 29 years old female presented to the Gynecology Out Patient Department for infertility. She also had multiple large nevi of varying sizes present since birth. The lesion was distributed all over the body. She also complained of sudden appearance of swellings at the back which were later excised and the histopathological examination showed the presence of neural nevus involving the dermis and subcutaneous tissue. This case is being reported for its rarity, the higher risk for melanoma transformation, its association with meningeal melanosis and few benign / malignant tumors.

Melanoma Arising After Excision of Giant Congenital Nevus

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

Coexistence of Congenital Giant Melanocytic Nevus of the Scalp with Cranial Defect, Poliosis, and Hair Loss

Congenital melanocytic nevi (CMN) are pigmented lesions presenting on the skin in approximately 1% of all newborns at or shortly after birth. CMN have been described as being associated with several anomalies, including cranial bone hypertrophy, scoliosis, and spina bifida. This is the first report to describe a giant congenital melanocytic nevus on the scalp associated with cranial involvement, poliosis, and alopecia.

Congenital giant melanocytic nevus with ambiguous genitalia in an 8-year-old child: A rare combination

Congenital melanocytic nevi may be common, quite extensive and even benign, but a giant congenital nevus is rare and has potential for malignant transformation. Giant nevus could occur in any part of the body; though, it is most common on the trunk and may be associated with other congenital malformations such as spina bifida, meningocele. However, there is a dearth of information on its combination with ambiguous genitalia. We therefore report a case of an 8-year-old child with a giant melanocytic nevus on the face and neck with widespread satellite nevi and ambiguous genitalia.