Giant Congenital Nevus Research Articles

Serial Tissue Expansion and Skin Grafts in the Management of a Giant Congenital Nevus of the Face: Review of Literature and Case Report.

Giant congenital nevi, especially on the head and neck, pose a challenge for plastic surgeons. This requires extensive experience in detailed planning, combining different techniques, and selecting appropriate materials for reconstruction. There have been reports of using a tissue expander, serial resection method, and full-thickness skin grafts for this type of nevus. However, the best way to completely remove a giant congenital nevus is endless. In this article, we would like to present a case of a left hemifacial giant congenital nevus in which we used multiple tissue expansion to fully replace the nevus, along with some of our modification techniques.

Clinical study on the role of platelet-rich plasma in human acellular dermal matrix with razor autologous skin graft repair of giant congenital pigmented nevus in children

BackgroundNA ObjectiveEvaluate the safety and feasibility of platelet-rich plasma (PRP) in the treatment of giant congenital melanocytic nevi (GCMN) in children with human acellular dermal matrix (HADM) transplantation. Patients and MethodsA total of 22 children with GCMN were included in the study. They were divided into an experimental and a control group. The experimental group used the method of HADM with Razor Autologous Skin Graft combined with PRP to repair skin and soft tissue defects after giant nevus resection (Group A, n = 11). The control group was treated with HADM with Razor Autologous Skin Graft (Group B, n = 11) only. To compare the survival rate of skin grafts, we used the Vancouver Scar Scale (VSS) for the postoperative skin graft area and the Patient and Observer Scar Assessment Scale (POSAS) to compare the two groups of patients. ResultsThere was no statistically significant difference in age, gender, location of giant nevi, and pathological classification between Group A and Group (P > 0.05). The survival rate of skin grafting and the VSS and POSAS scores of scar tissue in group A were superior to those of group B (P < 0.05). ConclusionsPRP has improved the survival rate of composite skin grafting in children with GCMN, and long-term satisfactory prognosis of scar healing. Therefore, we consider this treatment method a valuable contribution to clinical practice.

Óriás congenitális nevusból, csecsemőkorban kialakult melanoma malignum, esetbemutatás és az irodalom áttekintése

Authors present a case of a 37- year-old young female patient, who presented to the emergency department with transient dizziness. The performed cranial MRI confirmed the presence of a solitary brain metastasis. PET CT revealed an FDG-avid active lesion in the lung, with slightly enlarged lymph nodes. The brain tumor was surgically removed and histologically it corresponded to malignant melanoma metastasis. According to tumor board decision combined immunotherapy was initiated. Dermatological examination revealed that the patient was being treated for a histologically neuro-mixoid-appearing melanoma that developed at 3 months of age from a giant congenital nevus at birth and later metastasized regionally. Multiple radical surgeries were performed and she received vincristine and platina based chemotherapy. She was symptom-, and complaint-free for decades under regular check-ups until the onset of vertigo. In connection with the case the authors discuss the specific features of childhood melanomas, in particular the early-onset forms arising from congenital giant.

UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents

Genomic characterisation has led to an improved understanding of adult melanoma. However, the aetiology of melanoma in children is still unclear and identifying the correct diagnosis and therapeutic strategies remains challenging. Exome sequencing of matched tumour-normal pairs from 26 paediatric patients was performed to study the mutational spectrum of melanomas. The cohort was grouped into different categories: spitzoid melanoma (SM), conventional melanoma (CM), and other melanomas (OT). In all patients with CM (n=10) germline variants associated with melanoma were found in low to moderate melanoma risk genes: in 8 patients MC1R variants, in 2 patients variants in MITF, PTEN and BRCA2. Somatic BRAF mutations were detected in 60% of CMs, homozygous deletions of CDKN2A in 20%, TERTp mutations in 30%. In the SM group (n=12), 5 patients carried at least one MC1R variant; somatic BRAF mutations were detected in 8.3%, fusions in 25% of the cases. No SM showed a homozygous CDKN2A deletion nor a TERTp mutation. In 81.8% of the CM/SM cases the UV damage signatures SBS7 and/or DBS1 were detected. The patient with melanoma arising in giant congenital nevus (CNM) demonstrated the characteristic NRAS Q61K mutation. UV-radiation and MC1R germline variants are risk factors in the development of conventional and spitzoid paediatric melanomas. Paediatric CMs share genomic similarities with adult CMs while the SMs differ genetically from the CM group. Consistent genetic characterization of all paediatric melanomas will potentially lead to better subtype differentiation, treatment, and prevention in the future. Found in Acknowledgement.

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: , , , ,

Reconstruction of Hemifacial Congenital Giant Nevus with Pre-expanded Scalp Flaps and Deltopectoral Skin Flaps.

The hemifacial congenital giant nevus impacts both physical and mental health of the patients. Excision is typically the most suitable option in these situations, but reconstructing the subsequent surgical defects is always a serious challenge. Between February 2012 and January 2021, a retrospective review of 4 patients who suffered from hemifacial congenital giant nevus was conducted, and they were treated by pre-expanded scalp flap and deltopectoral flap simultaneously. All patients receive tissue expansion, nevus resection, expanded skin flap transfer, and pedicle division. Four patients with hemifacial congenital giant nevi were successfully treated with no major complications. One patient with a transferred deltopectoral flap experienced distal necrosis of the flap, and healed after dressing changes. No recurrence of the nevus was found during the follow-up period, and the transferred skin flaps match well with facial skin in contour and color. This modified pre-expanded scalp flap combined with a deltopectoral flap provides an easy and reliable way for hemifacial reconstruction in patients with a congenital giant nevus.

“Paradoxical” p16 overexpression in cutaneous melanoma: Molecular and immunohistochemical analysis of a rare phenomenon with a focus on cell cycle regulatory molecules

BackgroundOne of the most relevant genetic alterations in cutaneous melanoma (CM) is the biallelic inactivation/loss-of-heterozygosis (LOH) of cyclin-dependent kinase inhibitor 2 A (CDKN2A), which results in the immunohistochemical loss of p16 frequently found in CM. However, we recently described a rare case of dermal/deep-seated melanoma arising in giant congenital nevus (DDM-GCN) with p16 overexpression combined with p53 loss and tumor protein 53 (TP53) mutation. Herein, we reported a case series of CM with p16 overexpression and analyzed their clinicopathologic features, immunohistochemical expression of the cell cycle regulatory molecules (CCRM: p53, p21, Cyclin D1, Rb), and mutational landscape. MethodsWe retrospectively tested for p16 all cases of CM diagnosed at our institution between January 1st 2019-April 1st 2022. In CM with p16 overexpression, we reported clinicopathologic features, immunohistochemical results for melanocytic markers and CCRM, and mutational landscape investigated with a next-generation sequencing (NGS) panel. In cases with zonal p16 overexpression, the immunohistochemical assessment for melanocytic markers and CCRM, as well as the NGS analysis have been performed in both components {with and without p16 overexpression [p16(+)c and p16(-)]}. ResultsOverexpression of p16 was found in 10/2879 (0.35%) CM [5/10 (50%) diffuse and 5/10 (50%) zonal]. We combined the immunohistochemical results for CCRM and molecular data to classify the cases as follows: a) Group 1 with altered expression of at least one CCRM but no TP53 mutations [3/10 (30%), all with Rb altered/lost]; b) Group 2 with altered expression of at least one CCRM and TP53 mutations [4/10 (40%), all with p53 altered]; c) Group 3 with normal expression of CCRM and no TP53 mutations [3/10 (30%), all with mutations in MAPK pathway genes (NRAS and BRAF)]. In CM with zonal p16 overexpression, the histologic appearance of p16(+)c was heterogeneous, whereas combining CCRM profiles and molecular data the cases could be categorized as follows: a) cases with the same CCRM and molecular profiles in both p16(+)c and p16(-)c; b) cases with p16(+)c showing additional genetic mutations and/or modifications of CCRM expression. Conclusionsp16 overexpression is a rare event, occurring in advanced-stage, clinically- and histologically-heterogeneous CM. These lesions may be classified into three different groups based on CCRM expression and mutational profiles (including TP53 mutation). The analysis of CM with zonal p16 overexpression suggests that, at least in a subset of cases, this phenomenon could represent a sign of “molecular progression” due to the acquisition of additional genetic mutations and/or modifications of the CCRM profile.

Photo gallery. Rare dermatoses. Part I

Orphan dermatoses are caused by both genetic causes and a number of autoimmune, inflammatory and infectious processes in the body. Congenital giant nevus is associated with serious complications: malignant melanoma, CNS lesions (neurocutaneous melanosis). Multiple epidermoid cysts are often a component of Gardner's syndrome. Angiolymphoid hyperplasia with eosinophilia, a vascular tumor formation with proliferation of histiocytoid endothelial cells, with severe lymphocytic and eosinophilic infiltration, recurs in 1/3 of cases. Morbigan's disease is persistent erythema and swelling of the middle third and upper part of the face. Skin mastocytosis in children is prone to spontaneous resolution during puberty. Squamous cell skin cancer accounts for 20% of all skin cancers and has a high risk of recurrence, metastasis, and death. Buschke's scleroderma is a scleroderma-like disease that causes progressive fibrous-mucinous thickening of the skin affecting the neck, shoulders, proximal upper extremities, and face. Fulminant (lightning) acne is a sharply exacerbated form of acne vulgaris, characterized by an acute onset and the appearance of confluent abscesses. Cases of acne fulminans have been observed during treatment with isotretinoin. Norwegian (crustose) scabies is associated with a compromised immune response, which allows the mites to multiply and can number in the millions. Pretibial myxedema (thyroid dermopathy) is a rare extrathyroid manifestation of Graves' disease along with thyrotoxicosis, thyroid hypertrophy, ophthalmopathy, and acropachy. Porokeratosis Mibelli predisposing factors of development are immunosuppressive conditions, malignancy is possible. Osteomas are formations from bone tissue in the dermis or subcutaneous fat as a result of metaplasia of fibroblasts into osteoblasts, or differentiation of primitive mesenchymal cells into osteoblasts and their migration to an ectopic site. Sarcoidosis of the skin is characterized by a variety of clinical forms, rarely observed before 40 years. Xanthomas with histiocytosis X ― a violation of lipid metabolism. The rural type of leishmaniasis (acute necrotizing) has a short incubation period, a significant spread of rashes and healing with the formation of scar tissue. The giant condyloma of BuschkeLevenshtein is characterized by progressive growth, large size and recurrent course, it can transform into squamous cell carcinoma. Degos disease ― malignant atrophic papulosis ― a rare disease caused by blockage of the arteries and veins.

Malignant Melanoma within a Giant Congenital Melanocytic Nevus in a Pediatric Patient

While giant congenital melanocytic nevi are rare lesions in the pediatric population, malignant transformation within these lesions remains even more rare. A 22-month-old male patient developed a 6.5 mm Clark’s Level IV melanoma within a giant congenital nevus with an activating NRAS variant. The need for frequent surveillance and screening of giant congenital melanocytic nevi is essential to identify early signs of melanoma, even in the pediatric population.

Spotlight in Plastic Surgery: January 2023.

Spotlight in Plastic Surgery: January 2023.

Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report

BackgroundCoffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported.Case presentationHerein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature. Prominent characteristics of the cutaneous system were observed: (1) A congenital giant nevus from the left frontal and temporal regions to the entire left scalp; and (2) multiple melanocytic nevi on the face and trunk. Whole exome sequencing revealed a novel heterozygous variant in the ARID1B gene. Recombinant human growth hormone (rhGH) was given for short stature, and resulted in significantly improved height. No enlargement or malignant transformation of nevi occurred within 4 years of follow-up.ConclusionThe symptoms in cutaneous system is noteworthy,which may be a neglected phenotype in CSS.The therapeutic response of growth hormone is effective in this patient and no tumor related signs were found.

Editors' Selections from Relevant Scientific Publications

Highlights from the Literature| August 01 2022 Editors' Selections from Relevant Scientific Publications Author & Article Information Online ISSN: 1940-6215 Print ISSN: 1940-6207 ©2022 American Association for Cancer Research2022American Association for Cancer Research Cancer Prev Res (Phila) (2022) 15 (8): 473. https://doi.org/10.1158/1940-6207.CAPR-15-8-HFL Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn MailTo Tools Icon Tools Get Permissions Cite Icon Cite Search Site Article Versions Icon Versions Version of Record August 1 2022 Citation Editors' Selections from Relevant Scientific Publications. Cancer Prev Res (Phila) 1 August 2022; 15 (8): 473. https://doi.org/10.1158/1940-6207.CAPR-15-8-HFL Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest Search Advanced Search Malignant melanoma (by Nephron via Wikimedia Commons) A mouse study shows that proinflammatory topical therapy can shrink giant nevi: large, pigmented areas of skin that can become cancerous. In humans, giant nevi can cover up to 80% of the body’s surface and progress to melanomas 12% of the time. Choi et al. developed a genetically modified mouse model of giant nevi that developed pigmented skin patches and melanoma. They then treated the pigmented areas with inhibitors of the signaling molecules MEK, PI3K and c-KIT, or squaric acid dibutylester (SADBE), a topical treatment that induces inflammation and recruits macrophages. These treatments cleared much of the pigmentation and SADBE treatment eliminated the risk of melanoma. SADBE was also effective at treating patches of human nevi that had been grafted onto mice, suggesting that topical therapies that induce this type of inflammation could be developed to treat children with congenital giant nevi. Choi... You do not currently have access to this content.

Treatment for giant congenital nevi moves a step closer.

Treatment for giant congenital nevi moves a step closer.

Making a mouse out of a molehill: how precision modeling repurposes drugs for congenital giant nevi

Patients with congenital giant nevi (CGN), which can compromise quality of life and progress to melanoma, have limited treatment options. Choi et al. have demonstrated that topical application of a proinflammatory hapten for alopecia treatment [squaric acid dibutylester (SADBE)] caused nevus regression and prevented melanoma in an Nras mouse CGN model. Their results demonstrate the promise of repurposing drugs through precision modeling.

Cicatricial eyebrow restoration using the follicular unit extraction technique.

Cicatricial eyebrow loss that occurs after trauma or burns considerably reduces a person's self-confidence. Several methods, either surgical or nonsurgical, have been defined to reconstruct eyebrows. This study focused on eyebrow restoration using the atraumatic follicular unit extraction (FUE) technique in patients and emphasized certain details that should be considered during the treatment process. In this study, we discussed the management of 18 cases using this technique and their outcomes with respect to published literature. This study examined eyebrow restoration performed using a modified FUE technique in 18 patients who had cicatricial eyebrow loss due to trauma, excised congenital giant nevus, or burns. Moreover, special methods, including platelet-rich plasma, microneedling, steroid injections, and fat grafting, were used in each patient to increase the odds of graft survival. Aesthetically and functionally satisfactory outcomes were observed along with the appropriate orientation and symmetry of the eyebrows in all patients' follow-ups. Moreover, patients exhibited increased self-confidence, and the quality of skin, particularly in the transplantation area, was improved. There was no complication either in the recipient or in the donor site. Eyebrow restoration using the atraumatic FUE technique should be considered as the first treatment option in cases with cicatricial eyebrow loss as long as an appropriate evaluation and treatment method is followed for each patient.

26856 Proliferative nodule resembling angiomatoid Spitz with pronounced degenerative atypia arising within a giant congenital nevus

Proliferative nodules arising within congenital melanocytic nevi present a diagnostic challenge for dematopathologists given their close resemblance to melanoma. In difficult cases, ancillary molecular tests can be used to better exclude the possibility of malignancy. We report case of a biopsy and subsequent excision of an unusual proliferative nodule with overlapping features of angiomatoid Spitz tumor and ancient melanocytic nevus which demonstrated normal findings on both chromosomal microarray and a gene expression profiling assay.

RARE-20. MALIGNANT PERIPHERAL NERVE SHEATH TUMOR OF A CRANIAL NERVE IN AN INFANT WITH NEUROCUTANEOUS MELANOSIS

At one month of age, a female presented with a giant congenital nevus along lower back and thighs and hydrocephalus. A ventriculoperitoneal shunt was placed. An MRI was done at six months, initially reported as normal. At eleven months of age, five months after original MRI, patient presented with dysconjugate gaze and lethargy. MRI showed new 3.8 x 3.7 x 3.4 cm right cerebellopontine angle mass extending into Meckel’s cave and foramen ovale along with leptomeningeal disease extending from the mass along the entire length of the spinal cord. Retrospective review of prior MRI revealed subtle leptomeningeal enhancement concerning for neurocutaneous melanosis (NCM). Given the leptomeningeal disease, family elected for open biopsy and debulking of lesion instead of aggressive resection. Histologically, the mass showed hypercellular spindle cell neoplasm with mitotic activity and necrosis mixed with remnants of normal cranial nerve. GFAP was negative, excluding a glioma. HMB-45, MITF, panmelanoma, and Melan-A were negative, excluding melanoma. A negative myogenin stain ruled out ectomesenchymoma. S-100 protein and SOX-10 positivity with variable loss of staining for trimethylation of histone H3 K27 were indicative of malignant peripheral nerve sheath tumor (MPNST). Given the course of the mass, trigeminal nerve MPNST was presumed. Given the poor prognosis of intracranial MPNST and NCM, family elected to forgo treatment and was discharged with hospice. She died 25 days after surgery. Cranial nerve MPNST is rare. MPNST in patients with NCM has not previously been reported to our knowledge.

Cryocarboxy Surgery for the Treatment of Congenital Melanocytic Nevi of the Face, a New Addition of Simple Treatment for a Troublesome Problem

Congenital melanocytic nevi of the face cause substantial psychological and cosmetic problems in affected patients. The treatment of giant congenital nevi has been a long-standing challenge, but currently, various treatment options, such as cryotherapy, chemical peeling, electrical cautery, laser therapy, and surgery, have been tried for the treatment of congenital melanocytic nevi. In this article, we present our experience and the outcomes of the use of controlled carbon dioxide gas as a cryogen in the treatment of congenital melanocytic nevi. This study included 42 patients with varying sizes of congenital melanocytic nevi seen from January 2014 to April 2019. Cryocarboxy surgery was performed in all cases. The average evaluation score of our patients was excellent in 28 (66.6%) cases, good in 9 (21.4%) cases, satisfactory in 5 (12%) cases, and we had no poor results. Cryocarboxy surgery is a good addition to the armamentarium for the treatment of congenital melanocytic nevi. Carbon dioxide is a cheap, non-explosive, and readily available gas.

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

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