Giant Congenital Blue Nevus Presenting as Cutis Verticis Gyrata: A Case Report and Review of the Literature.

OBJECTIVES: Cerebriform intradermal nevus and giant congenital blue nevi are rarely reported melanocytic nevi with clinical and histopathologic similarities. Both are known to produce cutis verticis gyrata. We report a significantly large occipital scalp congenital blue nevus with secondary cutis verticis gyrata. The aim of this report is to increase clinical awareness of this entity, highlight histopathologic and mutational features of cerebriform intradermal nevi and giant congenital blue nevi, and stress the importance of clinicopathologic correlation for diagnosis. METHODS: Case report and review of the literature. RESULTS: A 20-year-old Asian male presented with a long-standing, large (20 cm × 30 cm), exophytic tumor at the occipital scalp and posterior neck. The skin overlying the lesion was arranged in thick folds resembling the surface of the brain, devoid of hair follicles, and discolored by salt-and-pepper pattern hyperpigmentation. After correlating the clinical and histopathologic findings, we diagnosed giant congenital blue nevus with secondary cutis verticis gyrata. Staged surgical excision was performed with subsequent treatment for hypertrophic scarring and occipital alopecia. CONCLUSIONS: Cerebriform intradermal nevus and giant congenital blue nevus have overlapping histologic and clinical features. Head and neck surgeons should be aware that nomenclature of these tumors is subjective and often imprecise. Diagnosis requires correlation of clinical findings, patient history, and histopathology. Surgical excision is advised due to rare malignant transformation potential.

Generalized congenital epithelioid blue nevi (pigmented epithelioid melanocytomas) in an infant: Report of case and review of the literature.

The epithelioid blue nevus (EBN) is a variant of the blue nevus characterized by heavily pigmented epithelioid melanocytes and lightly or nonpigmented spindle cells. It may be associated with Carney complex, a multiple neoplasia syndrome. Congenital cases of EBN not associated with Carney complex are rarely reported. We herein describe an infant who presented with multiple blue-gray nodules and papules involving the head, trunk, and extremities at birth, the corresponding histopathologic findings, and genetic testing results.

Blue Nevi of the Ocular Surface: Clinical Characteristics, Pathologic Features, and Clinical Course.

PURPOSE: Blue nevus is a melanocytic tumor that is commonly found in the skin. Extracutaneous presentations, including the ocular surface, are rare. As such, the purpose of this study was to characterize the clinical features and clinical course of congenital melanocytic tumor (blue nevus) of the conjunctiva. DESIGN: Retrospective, noncomparative case series. PARTICIPANTS: Twenty-one patients with 23 blue nevi of the ocular surface that were excised surgically between 2000 and 2016. METHODS: Chart review of patients identified from a database search of the Florida Lions Ocular Pathology Laboratory records. Pathologic diagnoses were confirmed by 2 pathologists (S.R.D. and G.E.). All specimens were bleached and, tissue permitting, stained using SOX10 (MilliporeSigma, Darmstadt, Germany) and CD68 (Leica Biosystems, Nussloch, Germany). MAIN OUTCOME MEASURES: Clinical characteristics, pathologic features, and clinical course. RESULTS: Mean age of the population was 55±15 years; 71.4% (n = 15) were white and 57.1% (n = 12) were men. One patient had 3 lesions, for a total of 23 lesions examined. Clinically, 13 lesions were on the bulbar conjunctiva, 3 were on the tarsal conjunctiva, 3 were in the fornix, 2 were caruncular, 1 was episcleral, and 1 was at the limbus. Before excision, 8 patients were thought to have primary acquired melanosis, 4 with concern for primary conjunctival melanoma, and 1 thought to have metastatic disease from a plantar melanoma. Five lesions were thought to be benign, and in 8 patients, the lesions were identified incidentally after other ocular surgeries, with no diagnosis of the lesions before excision. Pathologic features were consistent with simple blue nevi in 21 lesions and cellular blue nevus in 2 lesions. No malignant transformations were noted in any patient over the mean 20.2-month follow-up period (range, 2 weeks-103 months). CONCLUSIONS: Blue nevus is a rare deeply pigmented congenital melanocytic lesion with a benign clinical course that can appear clinically similar to primary acquired melanosis or melanoma.

Melanoma associated with congenital intermediate common blue nevus of the scalp - Case report.

Melanomas can arise either de novo (70%) or from pre-existing melanocytic lesions (30%). Of the latter, most cases arise at the dermoepidermal junction from small congenital or acquired non-blue nevi while only a few arise from blue nevi, notably the cellular subtype and less commonly the common (dendritic) type. Melanomas that arise from blue nevi usually occur on the scalp with greater frequency, as in the case described. Although previous studies have discussed melanoma arising from giant congenital blue nevi, few have discussed those arising from intermediate blue nevi. We present a case of a 52-yearold man with melanoma on the scalp evolving from an intermediate congenital common blue nevus.

Melanoma associated with congenital intermediate common blue nevus of the scalp - Case report

Abstract: Melanomas can arise either de novo (70%) or from pre-existing melanocytic lesions (30%). Of the latter, most cases arise at the dermoepidermal junction from small congenital or acquired non-blue nevi while only a few arise from blue nevi, notably the cellular subtype and less commonly the common (dendritic) type. Melanomas that arise from blue nevi usually occur on the scalp with greater frequency, as in the case described. Although previous studies have discussed melanoma arising from giant congenital blue nevi, few have discussed those arising from intermediate blue nevi. We present a case of a 52-yearold man with melanoma on the scalp evolving from an intermediate congenital common blue nevus.

Atypical Spitz Tumor Arising on a Congenital Linear Plaque-Type Blue Nevus: A Case Report With a Review of the Literature on Plaque-Type Blue Nevus.

The plaque-type blue nevus (PTBN) is a rare variant of blue nevus, of which only a few reports are described. A nodular growth within a preexistent PTBN should always alert to the possibility of malignant transformation. The authors report the first case of an atypical Spitz tumor arising on a congenital linear PTBN in a 60-year-old woman. The diagnosis of "atypical Spitz tumor" is here used to describe a microscopic "gray zone" in which it is not possible to differentiate with adequate certainty between a Spitz nevus and a spitzoid melanoma. This report adds to and summarizes the small body of literature describing PTBN and discusses diagnostic and clinical implications.

Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis--case report.

Neurocutaneous melanosis (NCM) is a rare condition characterized by central nervous system melanocytic tumors associated with congenital melanocytic nevi. Phacomatosis pigmentovascularis (PPV) is an association of vascular nevus with pigmentary nevus. Aberrant maturation of neural crest-derived cells is considered to be related to pathogenesis in both conditions. However, association of NCM and PPV has not been reported to the best of our knowledge. Melanocytoma, which usually involves the leptomeninges or spinal cord, is extremely rare in the retroperitoneum. We present here a case of a patient with NCM, PPV, and melanocytic tumors in the spinal cord and retroperitoneum, which were treated surgically. A 40-year-old woman had a 2-year history of dysesthesia and weakness in the left leg. History included congenital giant blue nevus-like lesion in the trunk, a port-wine stain in the sacral area, and Caesarean section performed 8 years before, when diffuse pigmentation in the peritoneum was noted. Magnetic resonance (MR) imaging of the spine revealed an intramedullary tumor at T10 level with paramagnetic signal characteristics. The spinal cord tumor was totally removed, and the histological diagnosis was melanocytoma. Three months later, a left retroperitoneal mass with histological features of melanocytic tumor was removed. Neither tumors recurred and the patient stays ambulatory 4 years after the surgery. Multiple subtypes of melanocytic tumors with distinctive features of NCM and PPV can develop simultaneously, mimicking malignant melanoma. Gross total resection of each tumor, when indicated, is beneficial.

Clinicopathologic features of an infant with generalized congenital epithelioid blue nevi.

Since epithelioid blue nevus (EBN) was 1st described in patients with Carney complex, 49 sporadic EBN cases, including 4 congenital EBN, have been reported. We present a 2-month-old healthy female with more than 1000 congenital EBN on the entire body. Skin biopsy revealed many nevus nests located in the upper dermis and a few nests extended around the sweat ducts and hair follicles in the middle and lower dermis. The heavily pigmented melanocytes were substantially epithelioid and occasionally spindle cells, admixed with melanophages. Immunohistochemistry revealed strong staining for S-100 and HMB-45 but weak or moderate staining for Melan-A in dermal melanocytes after melanin bleaching with potassium permanganate and oxalic acid prior to incubation with the primary antibody. A diagnosis of congenital EBN was made based on clinicopathologic and immunopathologic findings.

Congenital combined melanocytic nevus of the scalp with associated alopecia areata.

We report a case of a 20-year-old Chinese man with an alopecic congenital combined compound and blue melanocytic nevus of the scalp, associated with alopecia areata. The diagnosis of a combined melanocytic nevus was confirmed by histopathological examination and immunohistochemical stains, with exclusion of neurocristic hamartoma, which can have a similar clinical and histopathological appearance but different prognosis. In addition, we explore the association of this large melanocytic lesion with alopecia areata.

Malignant blue nevus arising in a giant congenital cellular blue nevus in an infant.

Giant congenital blue nevus (GCBN) is rare and usually occurs on the scalp. Malignant blue nevus (MBN) is also rare and has a poor prognosis. We report a case of MBN arising in a GCBN on the back. There have been three previous reports of MBN associated with GCBN on the trunk; our case had the earliest onset of MBN arising in a GCBN.

Homogeneous blue pattern: A rare presentation in an acral congenital melanocytic nevus.

Acral melanocytic nevi are relatively frequent in the palmoplantar location. In congenital nevi various characteristic dermoscopic patterns have been described, such as reticular and globular patterns, brown pigmented areas, and areas with peripilar depigmentation. However, there are few reports on the dermoscopic pattern of acral congenital nevi. The homogeneous blue pattern is typical of blue nevus and is not typical of acral localization and metastasis of cutaneous melanoma. However, this pattern should be considered characteristic of acral congenital nevus.

Two congenital cases of pigmented epithelioid melanocytoma studied by fluorescent in situ hybridization for melanocytic tumors: case reports and review of these recent topics.

The term 'pigmented epithelioid melanocytoma' (PEM) has recently been proposed as a nosological framework grouping lesions formerly known as animal-type melanomas, sporadic epithelioid blue nevi and Carney complex-associated epithelioid blue nevi. Congenital PEMs have been reported extremely rarely and their prognosis is poorly known. Four-color fluorescent in situ hybridization (FISH) for melanocytic lesions is a recent method developed to assess the malignant potential of ambiguous melanocytic lesions. Here we describe 2 cases of congenital epithelioid and strongly pigmented melanocytic lesions consistent with PEM. No BRAF gene mutation was found in the 2 cases. FISH for melanocytic lesions was also performed. The first case proved entirely negative, whereas the second one showed a positive zone with an extra copy of chromosome 6. The prognosis and management of PEM are discussed, with a review of the available data on the history, demographics, molecular alterations and histopathological aspects of this entity. PEM seems to represent a unique low-grade melanocytic tumor with a limited potential of metastasis to lymph nodes, but a favorable long-term clinical course. The published data about FISH for melanocytic tumors, and especially PEM, are reviewed. Four-color FISH may be a useful tool to assess more accurately the prognosis of these tumors.

Blue nevi and related lesions: a review highlighting atypical and newly described variants, distinguishing features and diagnostic pitfalls.

Blue nevi and related entities are a heterogenous group of congenital and acquired melanocytic tumors that includes established entities such as dendritic ("common") blue nevus and cellular blue nevus, and their numerous clinical and pathologic variants, such as deep penetrating nevus. They share several clinical and morphologic features including their blue tinctorial properties, the presence of a dermal proliferation of spindle, fusiform or ovoid cells, associated melanin pigment (both within the melanocytic tumor cells and also within macrophages) and stromal sclerosis and, at least focal positivity for HMB-45 (Gp100). Some variants, such as deep penetrating nevus, often show considerable variation in nuclear size and shape, and, as a consequence, are at risk of being misdiagnosed as melanoma by those unfamiliar with their characteristic morphologic features. The so-called malignant blue nevus is a controversial term denoting melanomas arising in association with or exhibiting some morphologic similarities to blue nevus. There are also lesions that are probably related to blue nevi, such as the recently described pigmented epithelioid melanocytoma and the neurocristic hamartomas, whose nature, biologic behavior, and relationship to the better established entities remains to be clearly established. This review aims to present a brief overview of these lesions, highlighting their pathologic characteristics, distinguishing features and potential diagnostic pitfalls, with particular emphasis on recently described entities, molecular findings, controversial areas, and approaches to diagnosis.

Subungual and periungual congenital blue naevus.

Subungual pigmented lesions should raise concern about malignant melanoma. Blue naevus of the nail apparatus is a rare entity, with only ten cases described in the literature. We report a 21-year-old Hispanic woman with a slowly enlarging 1.7 x 2.3-cm subungual and periungual pigmented plaque present since birth on her right second toe. Initial biopsy was consistent with a blue naevus of the cellular type and, given the recent clinical change and periungual extension, complete excision was recommended. The entire nail unit was resected down to periosteum with prior avulsion of the nail plate. Reconstruction was performed with a full-thickness skin graft. Follow up at 1 year revealed well-healed graft and donor sites with complete return of function. We present a case of a congenital subungual and periungual blue naevus of the cellular type and review the literature on this rare presentation of a congenital blue naevus.