A comparative study of proliferative nodules and lethal melanomas in congenital nevi from children.

Differentiating proliferative nodules (PNs) from melanomas arising in congenital nevi (CN) is a considerable challenge for dermatopathologists. Most of the specimens dermatopathologists assess that deal with this differential diagnosis involve proliferations of melanocytes arising in the dermis. In this study, we compare the clinical, histologic, and molecular findings of these 2 conditions. In our database, we found 22 examples of PNs arising in the dermis of CN and 2 cases of lethal melanomas arising from the dermis/epidermis of CN of children. Importantly, we found that among dermal melanocytic proliferations arising from CN in children, PNs are far more common than lethal melanomas. Clinically, multiplicity of lesions favored a diagnosis of PNs, whereas ulceration was infrequent in PNs compared with lethal melanomas. Histologically, PNs showed several distinct patterns including expansile nodules of epithelioid melanocytes with mitotic counts lower than that seen in the melanomas (1.67 vs. 12.5 mitoses/mm), a small round blue cell pattern often highly mitotically active, neurocristic-like, blue nevus-like, a nevoid melanoma-like pattern, or an undifferentiated spindle cell pattern. The lethal melanomas both featured expansile nodules of epithelioid melanocytes with high mitotic counts (range, 5 to 20 mitoses/mm) and an ulcerated overlying epidermis. At the molecular level, the PNs showed mostly whole chromosomal copy number aberrations, which in some cases were accompanied by rare partial chromosomal aberrations, whereas both lethal melanomas showed highly elevated copy number aberrations involving 6p25 without gains of the long arm of chromosome 6.

Widespread porokeratotic adnexal ostial nevus: clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus.

Porokeratotic eccrine ostial and dermal duct nevus and a similar condition, porokeratotic eccrine and hair follicle nevus, are rare disorders of keratinization with eccrine and hair follicle involvement. We describe the clinical features in 5 patients, all of whom had widespread skin involvement following the lines of Blaschko. Two patients presented with erosions in the newborn period as the initial manifestation of their disease; one had an associated structural anomaly, unilateral breast hypoplasia; and one adult had malignant transformation in the nevus with development of multifocal squamous cell carcinomas. Three patients had histologic involvement of both acrosyringia and acrotrichia. Based on the observation of overlapping histologic features, we propose the name "porokeratotic adnexal ostial nevus" to incorporate the previously described entities porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus.

E-cadherin expression in the subepithelial nevus cells of the giant congenital nevocellular nevi (GCNN) correlates with their migration ability in vitro.

BACKGROUND: Giant congenital nevocellular nevi (GCNN) are histologically characterized by the broad distribution of nevus cells in the epidermis and dermis. OBJECTIVE: To characterize E-cadherin in GCNN and define its role in nevic cell migrations. METHODS: Twenty-four cases were immunohistochemically examined and in five cases cells were isolated for primary culture for migration assays. RESULTS: The nevus cells in the superficial region showed the immunoreactivity of E-cadherin in a membranous pattern, but those in the deep part of dermis had little immunoreactivity. Ultra-structural analysis of the superficial nevus cells revealed that E-cadherin immunodeposits in the fibrillar processes around the cell body in a spotted pattern. This distribution pattern is quite different from that in the adherens junction of skin squamous epithelial cells. Boyden chamber experiments were performed using primary cultures of intradermal nevus cells. EDTA pretreatment reduced cell migration to the E-cadherin positive side when the E-cadherin positive population was relatively large in the primary cultures. CONCLUSIONS: These results indicate that E-cadherin in the nevus cells may affect nevus cell motility rather than intercellular attachment.

Giant ceribriform intradermal nevus on the back of a newborn.

A male newborn had a large cerebriform tumor covering his shoulders and almost the entire surface of his back. After exclusion of further abnormalities, the diagnosis of cerebriform intradermal nevus was made. This particular variant of giant melanocytic nevus should always be differentiated from cutis verticis gyrata, if located on the vertex. The clinical manifestation of cerebriform intradermal nevi as giant melanocytic nevi on the back is extremely rare, with only one instance reported to date. Such nevi are a therapeutic challenge, particularly if the skin lesion covers a large surface of the body, as in the patient presented here.

Widespread porokeratotic eccrine ostial and dermal duct nevus along Blaschko lines.

Porokeratotic eccrine ostial and dermal duct nevus is a congenital hamartoma of possible eccrine origin with no malignant potential. It is usually localized at the extremity of a single limb, while wider systematized distribution has rarely been documented. A child with an unusually widespread nevus following Blaschko lines is reported. The disorder had a striking presentation in the form of a systematized linear epidermal nevus composed of multiple tiny filiform keratotic spines, which histologically corresponded to columns of porokeratosis. Serial histopathologic sections of a 4-mm punch biopsy specimen barely demonstrated an anatomic relationship between the porokeratotic columns and the underlying acrosyringeal duct. This report provides further evidence of porokeratotic eccrine ostial and dermal duct nevus being distributed along Blaschko lines, thus confirming it is a peculiar epidermal nevus due to a mosaic cutaneous condition.

Linear congenital Becker nevus.

Becker nevus is an acquired disorder that usually manifests in late childhood or adolescence as a hyperpigmented hypertrichotic patch usually located on the upper trunk or proximal upper extremities. Only a few cases of congenital and familial Becker nevus have been described. Although the lesions may have various shapes, they consistently have a geographic or blocklike configuration in an irregular fashion; a linear pattern has rarely been reported. We describe a case of linear congenial Becker nevus following Blaschko line that appeared at birth on the right shoulder, with hypertrichosis developing 4 years later.

Cutis verticis gyrata secondary to a cerebriform intradermal nevus.

We report the case of a 30-year-old black man with a large mass consisting of longitudinal parallel ridges and furrows on the left parietal region. A small, single, hyperpigmented macule was present at birth and gradually grew and extended over the years. Cutis verticis gyrata was suspected, and an investigation was performed to discharge the possibility of pachydermoperiostosis. However, results of biopsies obtained from 3 different lesional areas showed the same histopathologic features--deep-seated hair follicles and clusters of nevus cells concentrated in the dermis. Cerebriform intradermal nevus is a rare cause of cutis verticis gyrata. Early diagnosis is extremely important to prevent the development of malignant melanoma.

A novel epidermal nevus syndrome with congenital cylindromatous turban tumor.

BACKGROUND: Epidermal nevi (in the broad sense of epithelial nevi) may give rise to benign or malignant skin tumors. They may also be associated with anomalies of other organ systems in an epidermal nevus syndrome. RESULTS: This article describes a preterm infant with nevus sebaceus of the scalp and face, a large turban tumor with features of malignant cylindroma and multiple non-cutaneous defects. These included skeletal, hematopoietic, hepatobiliary, and urinary anomalies. Severe secondary lesions were present (pulmonary hypoplasia due to oligohydramnios; cerebral infarcts probably related to the turban tumor). Karyotype was normal, and family history was negative. CONCLUSIONS: This unique case is unlike any reported epidermal nevus syndrome. Similarly, there is no prior report of a congenital cylindroma, certainly not as a turban tumor, which implies very rapid growth. The presence of both overgrowth and undergrowth phenomena (e.g. hypoplastic urinary tract and biliary atresia) may reflect dysregulation of paracrine growth factors, presumably due to genetic mutation.

Epidermal nevus syndrome with hypermelanosis and chronic hyponatremia.

Epidermal nevus syndrome is seldom encountered, and its association with hypermelanosis and the chronic syndrome of inappropriate antidiuretic hormone secretion (SIADH) has never been reported. A male neonate who developed intractable seizures and hyponatremia soon after birth is reported. He had alopecic patches on the scalp at birth. Large areas of skin hyperpigmentation, and epidermal nevi developed gradually. The clinical picture of hypotonic hyponatremia, high urine osmolality, elevated urine sodium, and euvolemia was compatible with SIADH. The seizures did not correlate with the hyponatremia, and no other cause for the seizures could be identified. The hyponatremia became chronic and was treated with a direct supply of sodium chloride. The development of the patient was markedly delayed at the last visit when he was 1 year of age. It is suggested that hypermelanosis and chronic SIADH may also be a variant presentation of epidermal nevus syndrome.

[Congenital divided compound nevi of the eyelids]. / Kongenitale geteilte Compound Naevi der Augenlider.

BACKGROUND: Congenital divided nevi of the eyelids are a rare melanocytic lesion. Only 30 patients are reported in literature. We report on a 6-year-old boy and a 41-year-old male with this lesion and give a short overview of the literature. CASE REPORTS: Patient 1: A 6-year-old boy presented with a pigmented divided nevus of the left eye involving the upper and lower lid naselly. The lesion had increased in size in the last one year. Otherwise the results of ophthalmological examination were unremarkable. The divided nevus was completely excised. Histopathological studies revealed a melanocytic compound nevus. Patient 2: A 41-year old male presented in our department with a divided pigmented nevus on his left eye involving the upper and lower lid laterally. The lesion had gradually increased since birth. Otherwise the results of ophthalmological examination were unremarkable. A subtotoal excision and debulking procedure was performed. The defect in the lower eyelid was covered using a transposition flap from the upper eyelid. Histopathological examination revealed a melanocytic compound nevus. CONCLUSION: Divided nevi of the eyelids may be disfiguring and include the possibility of deprivation amblyopia when reaching a certain size in childhood. Malignant changes of this lesion were not observed so far. Total excision or subtotal excision and a debulking procedure may be helpful.

Small cell type malignant melanoma which developed in a 16-year-old female with a congenital dermal nevus and metastasized 12 years after excision.

A case of malignant melanoma arising from a congenital dermal nevus on the right forehead of a 16-year-old female is presented. In the mole, small pigmented nevoid cells gathered around the skin appendages and between the collagen fibers. From the age of 17, a verrucous nevoid melanoma consisting of lymphoblast-like large nevoid cells, which were positive for HMB-45 and had a high Ki-67 index up to 18.7%, gradually increased in size. The melanoma cells vertically invaded the dermis to a depth of 3 mm and radially spread in the papillary dermis. Twelve years after undergoing a wide local resection and additional chemotherapy, metastatic lesions were found in the lung and the anterior mediastinum, which gradually increased in size and caused death a few months later. Metastatic melanoma cells were positive for HMB-45 and had a high Ki-67 index up to 33.7%. Most metastatic melanoma cells were positive for p53 while the primary ones were negative. Deteriorating mutations probably accumulated during the latent period.

Hamartomatous congenital melanocytic nevi showing secondary anetoderma-like changes.

A 47-year-old man had multiple large congenital melanocytic nevi associated with striking atrophic changes. Biopsy specimens showed a prominent reduction and fragmentation of elastic fibers in the papillary dermis. The anetoderma-like changes may have been secondary to a past inflammatory process but more likely represent a hamartoma.

A new look at nevus-associated melanomas.

The frequency with which malignant melanomas arise in association with preexisting melanocytic nevi has been studied extensively. We opted to evaluate new aspects of this association. In particular, we addressed the relative proportions of acquired versus congenital nevi involved and categorized the acquired nevi according to morphological type. Approximately 23% of the melanomas (29 of 124) in this group arose in association with preexisting nevi of which 55% (n = 16) were acquired and 28% (n = 8) were congenital (small). In 17% (n = 5) a distinction could not confidently be made. Of the acquired nevi, the vast majority were of Clark's type. It is clear that a relatively small proportion of melanomas as a whole are associated with preexisting nevi, and this number should be kept in perspective in devising strategies for early detection and prevention. The involvement of Clark's nevi in this regard is known, but to date the role of small congenital nevi has been underrecognized.