Significant improvement of a nevus spilus-type congenital melanocytic nevus with oral selumetinib.

Giant congenital melanocytic nevi (GCMN) can be cosmetically significant and can lead to melanoma. There is no standard pharmacologic treatment for GCMN. We present the case of an 8-year-old female with kaposiform lymphangiomatosis caused by an NRAS mutation whose nevus spilus-type GCMN improved on oral selumetinib.

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm.

Nevus spilus (NS) is composed of multiple types that characterized by a congenital hyperpigmented patch within variable even superimposed lesions originating from melanocytic lineage cells. The molecular mechanism and classification of diverse NS phenotypes remain unclear. Five children with a phenotype of NS were genotyped by the panel based on next-generation sequencing in this study. DNA from biopsies, blood samples and hair follicle were sequenced to confirm the presence of a somatic mutation. Sequencing results indicated somatic mutation in the gene of NRAS or HRAS in all biopsies from the nevi, and the pathogenic variants were not detected in the samples of blood and hair follicle. This study successfully identified the somatic mutation in five unrelated children with diverse NS phenotypes. Moreover, it provided typical images and differential diagnoses between variable NS phenotypes in clinical, pathological, and genetic features, and first proposed a clinical diagnostic algorithm that contributed to simplifying and optimizing the diagnoses and management of these overlapped diseases.

Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis.

Phacomatosis pigmentokeratotica (PPK) is defined by the association of papular nevus spilus arranged in a flag-like pattern and sebaceous nevus following Blaschko's lines. A systematic search of the worldwide literature retrieved 95 well-established PPK cases. An additional 30 cases were excluded for a number of reasons. Based on this study, we propose to rename PPK phacomatosis spilosebacea (PSS). Mosaic mutations of the HRAS gene are the only proven cause of PSS. The extracutaneous abnormalities of PSS result from various degrees of intermingling of Schimmelpenning syndrome and papular nevus spilus syndrome. PSS seems to be a condition at particularly high risk of developing basal cell carcinoma, urogenital malignancies, and vitamin D-resistant hypophosphatemic rickets. Extracutaneous abnormalities were detected in approximately 75% of PSS cases.

Optical coherence tomography confirms non-malignant pigmented lesions in phacomatosis pigmentokeratotica using a support vector machine learning algorithm.

INTRODUCTION: Phacomatosis pigmentokeratotica (PPK), an epidermal nevus syndrome, is characterized by the coexistence of nevus spilus and nevus sebaceus. Within the nevus spilus, an extensive range of atypical nevi of different morphologies may manifest. Pigmented lesions may fulfill the ABCDE criteria for melanoma, which may prompt a physician to perform a full-thickness biopsy. MOTIVATION: Excisions result in pain, mental distress, and physical disfigurement. For patients with a significant number of nevi with morphologic atypia, it may not be physically feasible to biopsy a large number of lesions. Optical coherence tomography (OCT) is a non-invasive imaging modality that may be used to visualize non-melanoma and melanoma skin cancers. MATERIALS AND METHOD: In this study, we used OCT to image pigmented lesions with morphologic atypia in a patient with PPK and assessed their quantitative optical properties compared to OCT cases of melanoma. We implement a support vector machine learning algorithm with Gabor wavelet transformation algorithm during post-image processing to extract optical properties and calculate attenuation coefficients. RESULTS: The algorithm was trained and tested to extract and classify textural data. CONCLUSION: We conclude that implementing this post-imaging machine learning algorithm to OCT images of pigmented lesions in PPK has been able to successfully confirm benign optical properties. Additionally, we identified remarkable differences in attenuation coefficient values and tissue optical characteristics, further defining separating benign features of pigmented lesions in PPK from malignant features.

Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.

Keratinocytic epidermal nevi (KEN) are characterized clinically by permanent hyperkeratosis in the distribution of Blaschko's lines and histologically by hyperplasia of epidermal keratinocytes. KEN with underlying RAS mutations have been associated with hypophosphatemic rickets and dysplastic bone lesions described as congenital cutaneous skeletal hypophosphatemia syndrome. Here, we describe two patients with keratinocytic epidermal nevi, in one associated with a papular nevus spilus, who presented with distinct localized congenital fibro-osseous lesions in the lower leg, diagnosed on both radiology and histology as osteofibrous dysplasia, in the absence of hypophosphatemia or rickets, or significantly raised FGF23 levels but with distinct mosaic HRAS mutations. This expands the spectrum of cutaneous/skeletal mosaic RASopathies and alerts clinicians to the importance of evaluating for bony disease even in the absence of bone profile abnormalities.

Genomic analysis of a case of agminated Spitz nevi and congenital-pattern nevi arising in extensive nevus spilus.

Nevus spilus is a melanocytic neoplasm characterized by a tan macular background punctuated by multiple hyperpigmented macules or papules that represent various types of nevi. These include junctional and compound nevi, Spitz nevi, and rarely blue nevi. We report a unique case of widespread, multiple nevi spili giving rise to agminated Spitz nevi and congenital-pattern compound nevi. We performed genetic analysis to further characterize the mutational profile of this rare entity.

Speckled lentiginous nevus: A rare presentation associated with motor neuropathy and muscular atrophy in a child.

Speckled lentiginous nevus syndrome has been described in individuals with a speckled lentiginous nevus with rare associated neurologic deficits. Because speckled lentiginous nevus syndrome almost always affects adults, it is not typically considered when evaluating children. We present the first reported case of speckled lentiginous nevus syndrome presenting in a young child with muscle atrophy and motor deficits affecting muscles along the same distribution as the speckled lentiginous nevus.

Medium-sized nevus spilus of the neck treated with pulsed dye laser.

Patients with large benign melanocytic lesions located on the neck represent a therapeutic challenge since the neck is a high-risk area for hypertrophic scarring and/or retraction. When treating a benign, extensive and visible melanocytic lesion, the choice of therapy mainly depends on the likelihood of improved cosmesis. We report a case of a 33-year-old woman with a medium-sized Nevus Spilus located on the neck, successfully treated with four sessions of pulsed dye laser. We achieved an excellent clinical and cosmetic result in such a challenging area. No scarring, distortion or significant dyscromia were observed after 24 months.

Overlapping large facial nevus spilus and nevus of Ota: A case report diagnosed with dermoscopy and reflectance confocal microscopy.

We report a rare case of large facial hyperpigmentation in a 25-year-old female. Starting one month after birth, the patient developed a blue-brown patch on the right side of her face, interspersed with black macules and papules. As she aged, the lesion progressively enlarged and darkened, eventually covering the entire right side of her face. Dermoscopic and reflectance confocal microscopy examinations indicated nevus spilus in some areas and nevus of Ota in others, leading to a definitive diagnosis of overlapping nevus spilus and nevus of Ota. With no signs of malignant transformation on clinical or imaging examination, successful treatment was achieved using Q-switched alexandrite laser without any adverse effects. Our case underscores the critical value of dermoscopy and reflectance confocal microscopy in diagnosing rare facial pigmentary conditions, as we compare the imaging characteristics of nevus spilus, nevus of Ota, and similar conditions, alongside their clinical and histopathological correlations. Furthermore, our findings highlight the significant role of imaging examinations in monitoring malignancy and guiding treatment decisions.

Phakomatosis pigmentovascularis type â ¢a mainly manifested by zosteriform nevus spilus: A case report with dermoscopic features.

A case of phakomatosis pigmentovascularis (PPV) type III a with a zosteriform distribution of nevus spilus as the main manifestation was reported. A 41-year-old man was born with a zosteriform distribution of pigmented rash on the left half-body, namely upper limb, shoulder and back. Physical examination revealed light brown pigments in a giant zosteriform distribution on the extensor side of the left upper limb and the left shoulder and back, with scattered brown spots and patches of variant sizes on the surface, which are consistent with the appearance of nevus spilus (NS). A relatively small area of dark red patch occurred on the left anterior shoulder, which showed telangiectasia and fading after pressing. It was consistent with the performance of a port-wine stain (PWS). Dermoscopy showed a clearer appearance and localized fusion of blood vessels and pigmented patch. He has no systemic involvement. The patient was diagnosed with phakomatosis pigmentovascularis type Ⅲa. NS and PWS can be treated with lasers if required.

Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy.

The co-existence of papular nevus spilus (PNS) and ipsilateral extracutaneous abnormalities involving peripheral nerves of the skin or muscles was originally described as "speckled lentiginous nevus syndrome". To avoid confusion with macular nevus spilus, the condition was recently re-named "papular nevus spilus syndrome". In addition to 14 published cases, we identified six new cases via a search of the worldwide literature. New diagnostic criteria are suggested: (1) presence of a PNS; (2) presence of a neurological or skeletal abnormality which is usually ipsilateral to the nevus; and (3) absence of a nevus sebaceus. According to current knowledge, PNS syndrome is a rather rarely occurring, sporadic disorder that can be considered to be part of a spectrum of mosaic RASopathies, which includes isolated PNS, isolated nevus sebaceus, PNS syndrome, Schimmelpenning syndrome, and phacomatosis pigmentokeratotica.

Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome?

Cutaneous symptoms in some patients with clinical picture of Schimmelpenning-Feuerstein-Mims syndrome can include a speckled lentiginous nevus, also known as nevus spilus. Recent investigations show that somatic heterozygous HRAS mutations are present in the sebaceous and speckled lentiginous nevus tissues of patients with combination of two nevi.

Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica.

Phacomatosis pigmentokeratotica is characterized by the coexistence of nevus sebaceus, papular nevus spilus and associated neurologic abnormalities. We report a case of phacomatosis pigmentokeratotica in a 28-year-old male who presented with palmar-plantar dysesthesia and ipsilateral brain hemiatrophy. As a characteristic neuroimaging finding of the disorder, we found multiple hypointense lesions involving the ipsilateral hemisphere.

Large congenital nevus spilus-improved follow-up through the use of in vivo reflectance confocal microscopy.

BACKGROUND: Nevus spilus (NS) is a potential precursor of melanoma; the vast majority of cases reported in the literature were histologically classified as superficial spreading melanoma. OBJECTIVE: To demonstrate the diagnostic value of reflectance confocal microscopy (RCM) in this subtype of congenital nevi. METHODS: We report a case of a large congenital NS with equivocal clinical and dermoscopic findings in which RCM was applied for diagnosis and follow-up. RESULTS: There was a good correlation of RCM with histopathology and a lack of dynamic changes during follow-up. CONCLUSION: Our observations indicate that RCM, as a non-invasive tool, can be useful for diagnosis and follow-up of clinically and dermoscopically equivocal NS.

Speckled lentiginous nevus syndrome with median nerve paresis: A rare syndrome with a new association.

Speckled lentiginous nevus (SLN) represents a mosaic phenotype which consists of café au lait macule superimposed by melanocytic nevi. Recently, SLN syndrome has been characterized where ipsilateral neurological abnormalities have been reported in association with SLN with papular type of melanocytic nevi only. This case describes the presence of ipsilateral thenar muscle atrophy with median nerve paresis in nevus spilus which had melanocytic nevi of the macular type alone, thus delineating a new association in SLN syndrome, hitherto unreported.

Melanoma arising in a giant nevus spilus maculosus.

Melanoma arising in a nevus spilus is rare. There are two distinct types of nevus spilus characterized by macular or papular speckles, respectively. We report the case of a melanoma that arose in association with a giant nevus spilus maculosus.

Development of Halo Nevus Around Nevus Spilus as a Central Nevus, and the Concurrent Vitiligo.

Halo nevus is a benign melanocytic nevus that is surrounded by a hypopigmented zone. The most frequent association with halo nevus is vitiligo, and this also appears in nearby regions, as well as at other remote sites. Although the mechanism for developing the depigmentation around nevus spilus is uncertain an immunologic process may be responsible for the finding of inflammatory infiltrates of the upper dermis in the depigmented lesions. We report here on a 13-year-old boy who showed a depigmented zone around a nevus spilus on the right side of his neck with simultaneous vitiligo lesions on the face.

Development of Halo Nevus Around Nevus Spilus as a Central Nevus, and the Concurrent Vitiligo

Halo nevus is a benign melanocytic nevus that is surrounded by a hypopigmented zone. The most frequent association with halo nevus is vitiligo, and this also appears in nearby regions, as well as at other remote sites. Although the mechanism for developing the depigmentation around nevus spilus is uncertain an immunologic process may be responsible for the finding of inflammatory infiltrates of the upper dermis in the depigmented lesions. We report here on a 13-year-old boy who showed a depigmented zone around a nevus spilus on the right side of his neck with simultaneous vitiligo lesions on the face.

A Case of Congenital Melanocytic Nevi Following Blaschko's Lines / 대한피부과학회지

Nevus spilus, also known as speckled lentiginous nevus, is a relatively common cutaneous lesion that is characterized by multiple pigmented macules within a pigmented patch. It may be congenital or acquired, and it can show the histological features of congenital melanocytic nevus (CMN). The possible relationship between nevus spilus and CMN has been contentious. We report a case of a congenital nevus that followed the line of Blaschko and clinically manifested as nevus spilus, but showed the histological features of CMN.