Congenital Nevi Research Articles

Neurocutaneous melanocytosis (melanosis).

Neurocutaneous melanosis (NCM; MIM # 249400; ORPHA: 2481], first reported by the Bohemian pathologist Rokitansky in 1861, and now more precisely defined as neurocutaneous melanocytosis, is a rare, congenital syndrome characterised by the association of (1) congenital melanocytic nevi (CMN) of the skin with overlying hypertrichosis, presenting as (a) large (LCMN) or giant and/or multiple (MCMN) melanocytic lesions (or both; sometimes associated with smaller "satellite" nevi) or (b) as proliferative melanocytic nodules; and (2) melanocytosis (with infiltration) of the brain parenchyma and/or leptomeninges. CMN of the skin and leptomeningeal/nervous system infiltration are usually benign, more rarely may progress to melanoma or non-malignant melanosis of the brain. Approximately 12% of individuals with LCMN will develop NCM: wide extension and/or dorsal axial distribution of LCMN increases the risk of NCM. The CMN are recognised at birth and are distributed over the skin according to 6 or more patterns (6B patterns) in line with the archetypical patterns of distribution of mosaic skin disorders. Neurological manifestations can appear acutely in infancy, or more frequently later in childhood or adult life, and include signs/symptoms of intracranial hypertension, seizures/epilepsy, cranial nerve palsies, motor/sensory deficits, cognitive/behavioural abnormalities, sleep cycle anomalies, and eventually neurological deterioration. NMC patients may be symptomatic or asymptomatic, with or without evidence of the typical nervous system changes at MRI. Associated brain and spinal cord malformations include the Dandy-Walker malformation (DWM) complex, hemimegalencephaly, cortical dysplasia, arachnoid cysts, Chiari I and II malformations, syringomyelia, meningoceles, occult spinal dysraphism, and CNS lipoma/lipomatosis. There is no systemic involvement, or only rarely. Pathogenically, single postzygotic mutations in the NRAS (neuroblastoma RAS viral oncogene homologue; MIM # 164790; at 1p13.2) proto-oncogene explain the occurrence of single/multiple CMNs and melanocytic and non-melanocytic nervous system lesions in NCM: these disrupt the RAS/ERK/mTOR/PI3K/akt pathways. Diagnostic/surveillance work-ups require physical examination, ophthalmoscopy, brain/spinal cord magnetic resonance imaging (MRI) and angiography (MRA), positron emission tomography (PET), and video-EEG and IQ testing. Treatment strategies include laser therapy, chemical peeling, dermabrasion, and surgical removal/grafting for CMNs and shunt surgery and surgical removal/chemo/radiotherapy for CNS lesions. Biologically targeted therapies tailored (a) BRAF/MEK in NCM mice (MEK162) and GCMN (trametinib); (b) PI3K/mTOR (omipalisib/GSK2126458) in NMC cells; (c) RAS/MEK (vemurafenib and trametinib) in LCMNs cells; or created experimental NMC cells (YP-MEL).

Segmental excision of congenital melanocytic nevus by multiple incisions

Direct appositional suture closure after total resection of a large congenital pigmented nevus can result in a dog-ear deformity. Alternatively, serial, staged, sequential excisions can be used, but the process is both time consuming and tedious. Avoiding a long scar and obviating the need for repeated operations remain important goals.

Value of Teledermoscopy in Primary Healthcare Centers: Preliminary Results of the TELESPOT Project in Belgium.

IntroductionTeledermoscopy using smartphone-based applications is becoming more and more important in a setting of increasing frequency of skin cancer and difficult access to specialized care. The TELESPOT project aimed to provide rapid diagnosis and speed up patient flow between primary healthcare centers and a tertiary care center in Belgium. The aim of the present study is to describe the development of an in-house smartphone-based dermoscopy application, evaluate its real-life value in a series of primary healthcare centers, and present preliminary diagnostic data.MethodsModified Likert scales were used to assess patient and general practitioner (GP) satisfaction rates for the system. Furthermore, a total of 105 photographic and dermoscopic images were acquired in a series of 80 patients at participating centers.ResultsOverall, patient and GP satisfaction levels were 89% and 94%, respectively. High-priority management was recommended in 7.6% of cases (8/105: 3 basal cell carcinoma, 1 primary cutaneous B-cell lymphoma, 1 Spitz melanocytic nevus, 1 congenital nevus, 1 in situ melanoma, and 1 invasive melanoma, proven by histology).ConclusionsThe primary healthcare centers were highly satisfied with the TELESPOT project in terms of user-friendliness, efficacy, and reliability as well as in providing a reinforced image of first-line medicine efforts in combating skin cancer.

A malignant birthmark detected by 18F-FDG PET/CT in a patient with esophageal cancer.

Finstad AC, Kirchhof MG. Skin cancer development in a birthmark. CMAJ. 2019;191:E1082. https://doi.org/10.1503/cmaj.190492. Article PubMed Google Scholar Gonzalez J, Palangio M, Fialkoff CN, Schwartz J, Bisaccia E. Giant congenital melanocytic nevus with a large ulceration at birth: a 5-year follow-up. J Am Acad Dermatol. 2003;49:752–4. https://doi.org/10.1067/s0190-9622(03)00458-4. Article PubMed Google Scholar Bouzaid S, Tissot-Therrien G, Kauzman A, Mainville GN. An unusual birthmark. J Am Dent Assoc. 2018;149:802–6. https://doi.org/10.1016/j.adaj.2018.05.003. Article PubMed Google Scholar Hoffman D, Ratner D. Diagnosis and management of a changing congenital melanocytic nevus. Skinmed. 2006;5:242–5. https://doi.org/10.1111/j.1540-9740.2006.05648.x. Article PubMed Google Scholar Viana AC, Gontijo B, Bittencourt FV. Giant congenital melanocytic nevus. An Bras Dermatol. 2013;88:863–78. https://doi.org/10.1590/abd1806-4841.20132233. Article PubMed PubMed Central Google Scholar Download references Nanfang PET center, Southern Medical University Nanfang Hospital, No.1838 Guangzhou Avenue North, Guangzhou, Guangdong Province, China Lijuan Wang & Yin Zhang You can also search for this author in PubMed Google Scholar You can also search for this author in PubMed Google Scholar Correspondence to Yin Zhang. The authors declare that they have no conflict of interest. Informed consent was obtained from the patient included in the study. Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This article is part of the Topical Collection on Image of the month Reprints and Permissions Wang, L., Zhang, Y. A malignant birthmark detected by 18F-FDG PET/CT in a patient with esophageal cancer. Eur J Nucl Med Mol Imaging (2020). https://doi.org/10.1007/s00259-020-05031-2 Download citation Received: 03 July 2020 Accepted: 07 September 2020 Published: 15 September 2020 DOI: https://doi.org/10.1007/s00259-020-05031-2

Diagnosis of congenital pigmented macules in infants with reflectance confocal microscopy and machine learning

To the Editor: Congenital pigmented macules (CPMs) can be clinically and dermoscopically equivocal in infants, making the differential diagnosis between café au lait spots (CLSs) and congenital melanocytic nevus (CMN) difficult. Reflectance confocal microscopy (RCM) may reveal morphologic patterns, differentiating CMN from CLS at the bedside and changing management and follow-up of these lesions.

Pattern of Dermatosis Among the Admitted Neonates in A Tertiary Care Hospital

Background: Neonatal dermatosis are common in neonatal period of first twentyeight days. Most of which are physiological, transient and require no therapy, aswell as pathological lesions in the skin of neonates. This study was done to see thepattern of dermatosis in neonates and to establish the correlation between variousneonatal factors, maternal factors and the occurance of dermatosis and to identifythem correctly to avoid concerns of parents, Gynaecologist and Pediatricians.
 Materials and methods: A total of 1000 admitted neonates in a 4 month period inneonatal ward of a tertiary care hospital were included in this study and a detailedhistory and dermatological examination including hair , nail and mucous membraneof each neonate was carried out. Laboratory procedures were performed asrequired.
 Results: We found 300 (30%) newborns had one or more skin lesions out of 1000newborns examined. Male to female ratio was 1.14:1. Most common skin changesobserved was physiological scaling (50%), Acne neonatorum (13%), Erythematoxicum neonatorum (11%), Xerosis (10%), Milia (9%), Cutis marmorata (7%),Infantile seborrhoic dermatitis (7%). Among congenital skin lesions, congenitalmelanocytic nevus (1%) portwine stain (1%). Genodermatosis are Epidermolysisbullosa (0.3%), Congenital icthyosiform erythroderma (0.3%). Acquired skinmanifestation seen in 17% of cases.
 Conclusions: Neonates are prone to suffer from a different varieties of dermatosisboth physiological and pathological which are unique to neonates. It is important todifferentiate them from other serious skin conditions which shows the importance ofa dermatologist in the neonatal unit of a hospital.
 Chatt Maa Shi Hosp Med Coll J; Vol.19 (1); January 2020; Page 15-19

Atypical presentation of Schimmelpenning-Feuerstein-Mims syndrome associated to a giant congenital nevus: a one case report

Atypical presentation of Schimmelpenning-Feuerstein-Mims syndrome associated to a giant congenital nevus: a one case report

The Distinctive Genomic Landscape of Giant Congenital Melanocytic Nevi

Congenital melanocytic nevi (CMN) are heterogeneous in their clinical appearance and implications and range in size from small to large and/or giant. Large–giant CMN (LGCMN) have an increased risk of malignant transformation, and the most severe complication manifests as melanoma of the CNS. Mutations in the oncogene NRAS are the most frequently observed; however, this postzygotic mutation is not present in all subtypes of CMN. In a study of LGCMN, Martins da Silva et al. (2019) performed RNA sequencing and multiregional sequencing (median coverage approximately ×19,000) using a targeted panel of genes (see Supplementary Materials) and discovered that ∼60% harbored an NRAS mutation, but other rare events such as gene fusions were identified.

Dermoscopic predictors of melanoma arising in small- and medium-sized congenital nevi

To the Editor: The risk of melanoma in congenital nevi (CN) is known to increase with the nevus size.1 The estimated lifetime risk of melanoma in small- and medium-sized CN is low, especially if the nevi are solitary or few. However, the incidence of small- and medium-sized CN is much higher compared with large and giant CN. Therefore, the absolute number of melanomas developing in small- or medium-sized CN might be considerable.1

Congenital melanocytic nevi.

To update pediatric providers on new developments in our understanding of the clinical presentation, genetics, and systemic risks associated with congenital melanocytic nevi (CMN). CMN are primarily caused by sporadic postzygotic somatic mutations, most frequently in NRAS, and studies of the genetic underpinnings of CMN have demonstrated a diverse array of genetic drivers. The primary complications of large and giant CMN include neurocutaneous melanocytosis and malignant melanoma. Abnormalities in CNS MRI may predict a worse clinical course for patients and increased risk of melanoma. Targeted therapies of the MEK pathway have begun to be studied for the treatment of CMN and prevention of associated complications. Patients with large and giant CMN should be managed by an interdisciplinary care team for the monitoring of dermatologic, neurologic, and psychosocial concerns. Ongoing research is underway to better characterize the genetic drivers of CMN and to better guide development of targeted therapeutics.

Pediatric Melanoma: Epidemiology, Pathogenesis, Diagnosis and Management

Pediatric melanoma is the most common skin cancer in children. However, it is extremely rare this population, being even rarer in younger than 10 years of age. Its diagnosis is often difficult, due to its rarity and atypical presentations. There are three main subtypes of pediatric melanoma: Spitzoid melanoma, melanoma arising in a congenital melanocytic nevus and conventional melanoma. Congenital melanomas exist and are exceptionally rare, although they do not constitute a different subtype of melanoma. Spitzoid melanoma is the most common subtype affecting children younger than 11 years. Despite presenting with local aggressive features and frequent nodal involvement, it encompasses an excellent prognosis. The risk of malignant transformation of congenital melanocytic nevi varies widely accordingly to the projected adult size, number, and concomitant abnormalities found in the central nervous system. The surveillance and treatment of melanoma arising in a congenital melanocytic nevus is challenging, enclosing poor outcomes. In adolescents, the most common subtype is the conventional (adult-type). Contrary to the adult population, the majority of conventional pediatric melanoma arises from previous nevi but follows the general adult epidemiology and risk factors. Specific guidelines for management of pediatric melanoma do not exist and it is treated similarly to melanoma in the adult.

Congenital Melanocytic Hairy Nevi in a Child from North-Western Nigeria

Aim: To present the first report of a large congenital melanocytic nevus with satellite nevi in an apparently healthy child from Sokoto, North-Western Nigeria.
 Presentation of Case: A three year old girl was brought to the paediatric out-patient clinic of Paediatrics department of Usmanu Danfodiyo University Teaching Hospital (UDUTH) Sokoto with complaints of darkened skin colour on the left side of the face and scalp, the left arm, lower back, buttocks, and thighs, and excessive hair growth over the same side of the face since birth. There were no neurological symptoms Physical examination findings revealed a well-nourished, not ill looking child. She had a hyper pigmented patch on the left side of the face extending from the lower jaw to the scalp, measuring 21 cm in its longest length, with hypertrichosis on the same site, and two distinct, firm, painless nodular lesions on the left temporal region measuring 3 mm and 4mm respectively. On the lower one-third of the left arm was a hairy, velvety area of hyperpigmentation measuring 2X3 cm in diameter. Other affected sites were the lower back, the gluteal region and the thighs. Her neurologic and other systemic examinations were normal. A diagnosis of large congenital facial melanocytic hairy nevus with multiple satellite nevi was made.
 Discussion: Congenital melanocytic nevi are benign proliferations of melanocytic cells said to be present at birth or in the first two years of life. Large lesions are rare, they measure 20 cm or more and are said to occur more commonly on the trunk and thighs. The exact pathogenesis of congenital melanocytic nevi is yet, unknown. It is thought to occur as a result of a morphological error in the neuroectoderm during embryogenesis. Treatment of patients with large congenital melanocytic nevus may include surgical or non-surgical procedures as well as psychological interventions. Large lesions, multiple satellite lesions or paravertebral and axial locations are sometimes associated with the risk of neurological complications and malignant transformation.
 Conclusion: Large congenital melanocytic nevi are uncommon skin lesions that can occur in apparently healthy children. Individualization of the patients with regards to treatment options and long term monitoring are imperative.

Biological Glue as an Alternative to Suction Drainage in Tissue-Expanded Flaps in Children

Biological glue is already used as a hemostatic agent and tissue adhesive in plastic surgery. This study evaluates the use of this glue as an alternative to suction drainage for the adhesion of tissue-expanded flaps in pediatric patients. This is a retrospective, multicenter case-control study on 48 flap procedures conducted on 42 children (5 months-12 years of age) between 2004 and 2017, comparing a "glue" group (n = 24) with a control group (n = 24), in which a classic redon drain was used. The control patients were matched according to age, etiology, location of the lesion, and the size of the expander. The primary end point was the duration of hospital stay. The conditions were 24 cases of congenital nevus, 14 of cicatricial alopecia, and 10 of sebaceous hamartoma. Twenty-nine lesions were located on the scalp, 15 on the back, 2 on the thigh, and 2 on the buttocks.The average surgical durations (48 ± 24 vs 63 ± 32 minutes, P = 0.13) and average room occupancy time (126 ± 21 vs 139 ± 44 minutes, P = 0.29) were similar between the glue group and the control group. However, the average duration of hospital stay was lower in the glue group (1.5 ± 1.5 days) than in the control group (3.6 ± 1.3 days, P < 0.0001). The complication rates between the groups were similar. The application of glue on expanded flaps is as reliable as suction drainage with the advantage of reducing the duration of hospital stay and potentially enabling outpatient treatment for certain patients.

A retrospective multicenter study of fatal pediatric melanoma

Pediatricmelanoma is rare and diagnostically challenging. To characterize clinical and histopathologic features of fatal pediatric melanomas. Multicenter retrospective study of fatal melanoma cases in patients younger than 20years diagnosed between 1994 and 2017. Of 38 cases of fatal pediatric melanoma identified, 57% presented in white patients and 19% in Hispanic patients. The average age at diagnosis was 12.7years (range, 0.0-19.9y), and the average age at death was 15.6years (range, 1.2-26.2y). Among cases with known identifiable subtypes, 50% were nodular (8/16), 31% were superficial spreading (5/16), and 19% were spitzoid melanoma (3/16). One fourth (10/38) of melanomas arose in association with congenital melanocytic nevi. Retrospective nature, cohort size, and potential referral bias. Pediatric melanoma can be fatal in diverse clinical presentations, including a striking prevalence of Hispanic patients compared to adult disease, and with a range of clinical subtypes, although no fatal cases of spitzoid melanoma were diagnosed during childhood.

Spontaneous Regression of Divided Nevus of the Eyelid Evaluated by Dermoscopy : Is it Hypopigmentation After Regression or Vitiligo

Background: Divided nevus, also known as &ldquo;kissing nevus ,&rdquo; is a rare form of congenital melanocytic nevus that occurs on opposing margins of upper and lower eyelids. A paucity of literature on this rare anomaly exists , with most being case reports and series. Moreover, regression of this lesion was rarely reported. Case Illustration : We present a rare case of congenital divided nevus of the eyelid that regressed after eight years, confirmed with dermoscopy. A six -year-old boy presented to the Dharmais National Cancer Hospital with two pigmented macules on the upper and lower right eyelid since birth. A year ago, the lesions started gradually disappearing and were replaced by a hypopigmented area . We evaluated the clinical and dermoscopic findings for two consecutive years. The dermoscopy showed pseudopigment networks, surrounded by a hypopigmented area resembling a halo. The pigmented lesions cleared with no residual lesions. Discussion : The dermoscopic findings of the patient resemble a solar lentigo characterized by pseudopigment networks, a feature caused by the relatively flattened rete ridge on the face. The hypopigmented area reflects a regression process, like the halo nevus, and is accompanied by leukotrichia of the eyelashes, a feature usually found in patients with vitiligo. Regression of the divided nevus is related to an autoimmune process. A similar mechanism was also found in vitiligo. Since no atypical findings were present in this patient, we recommend only observation. Conclusion : Divided nevus is a rare case. We present a case of congenital divided nevus of the eyelid that regressed spontaneously. Clinical and dermoscopic findings of hypopigmented regression area were similar with vitiligo, which might share similar pathological mechanisms. &nbsp; &nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; Keywords: divided nevus, eyelid, regression, dermoscopy, vitiligo

Trends in pediatric skin cancer.

To inform pediatric providers of the clinical characteristics, underlying genetic drivers, and therapeutic options for skin cancer arising in childhood and adolescence. The incidence of melanoma in pediatric patients has been declining in the past decades. Pediatric-specific diagnostic criteria should be utilized when assessing lesions concerning for melanoma to better account for the different presentations seen in pediatric disease compared with adults, such as an increased prevalence of amelanotic melanoma or frequent mimic of benign pediatric lesions. Pediatric melanoma often presents with a higher histopathologic stage and a higher Breslow depth as compared with adult melanoma. Pediatric nonmelanoma skin cancer including basal cell carcinoma and squamous cell carcinoma are associated with genetic conditions and immunosuppression, both iatrogenic and inherited. Melanoma in pediatric patients often presents differently from conventional adult melanoma, including Spitz melanoma and melanoma associated with congenital melanocytic nevi. Pediatric patients with nonmelanoma skin cancers should be evaluated for predisposing risk factors. More research on therapeutic options for pediatric skin cancer is vital to understanding the tolerance and response of our pediatric patients to therapies that are more frequently utilized in adult disease.

Congenital Melanocytic Nevi With Meyerson Phenomenon: Two Case Reports and Review of the Literature.

Congenital Melanocytic Nevi With Meyerson Phenomenon: Two Case Reports and Review of the Literature.

Pigmented Epithelioid Melanocytoma in Congenital Nevus of Medium Size in Children.

Citation: Jurakić Tončić R, Murat Susic S, Curkovic D, Petkovic M, Luzar B, Ilic I. Pigmented epithelioid melanocytoma in congenital nevus of medium size in children. Dermatol Pract Concept. 2020;10(3):e2020067. DOI: https://doi.org/10.5826/dpc.1003a67

Artificial Skin INTEGRA Use in the Treatment of Large Melanocytic Nevi

Melanocytic nevi are congenital, benign, pigmented proliferations. They have high risk of malignancy, most frequently transform to malignant skin melanoma and 70% it occurs in the first life decade. The risk of malignant transformation increases proportionately to their size. The best way to avoid those risks is early and radical excision. In 1996 on the market appeared the Integra™ artificial skin, has made it possible to improve the methods for the elimination of large congenital nevi and significantly reduce the risk of malignant melanoma, at an early age.&#x0D; 2011–2019, in Children’s Hospital, Affiliate of Vilnius University Hospital Santaros Clinics, the Integra™ was used to treat congenital melanocytic nevi in four children. Implantation of the skin substitute Integra™ has been successful for all the patients, the prognosis was good.&#x0D; The treatment of congenital melanocytic nevi is a necessity to avoid the risk of developing malignant melanoma. The rarity of this condition has led to the fact that so far there is no universal approach for all the cases. Integra™ artificial skin is an excellent choice for the treatment of congenital melanocytic nevi, especially for paediatric patients.

A case of congenital melanocytic nevus with Sutton’s phenomenon

A case of congenital melanocytic nevus with Sutton’s phenomenon