Autopsy case of linear nevus sebaceous syndrome with KRAS (G12D) mutation.

Linear nevus sebaceous syndrome (LNSS) is a neurocutaneous syndrome associated with systemic complications that involve multiple organs, including the skin, central nervous system, eyes, and skeleton. LNSS is considered to be caused by mosaic RAS gene mutation. In this report, we present an autopsy case of LNSS in a Japanese boy. The affected neonate had hydrops fetalis and was born at 28 weeks and 4 days of gestation, weighing 2104 g. He had bilateral inverted eyelids, verrucous linear nevus separated along Blaschko's line, myocardial hypertrophy, and pharyngeal constriction, and underwent intensive treatment in NICU for arrhythmia, hydrocephalus, and respiratory distress. The hydrocephalus progressed gradually and he died at the age of 181 days, 12 days after a sudden cardiac arrest and recovery. KRAS G12D mutation was found in a skin biopsy specimen but not in blood cells, suggesting a postzygotic mosaicism. Autopsy revealed novel pathological findings related to LNSS, including intracranial lipomatous hamartoma and mesenteric lymphangioma, in addition to previously reported findings such as multicystic dysplastic kidney. There was the limited expression of mutated KRAS protein in kidneys.

Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder caused by somatic FGFR1 and KRAS variants. It shares significant phenotypic overlap with several closely related disorders caused by mutations in the RAS-MAPK pathway (mosaic RASopathies). We report a diagnostically challenging case of ECCL in which next-generation sequencing of affected tissue identified a pathologic FGFR1 p.K656E variant, thereby establishing a molecular diagnosis. Patients with FGFR1-associated ECCL carry a risk of developing malignant brain tumors; thus, genetic testing of patients with suspected ECCL has important management implications.

HRAS-related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects.

Epidermal nevus syndrome (ENS) comprises a heterogeneous group of neurocutaneous syndromes associated with the presence of epidermal nevi and variable extracutaneous manifestations. Postzygotic activating HRAS pathogenic variants were previously identified in nevus sebaceous (NS), keratinocytic epidermal nevus (KEN), and different ENS, including Schimmelpenning-Feuerstein-Mims and cutaneous-skeletal-hypophosphatasia syndrome (CSHS). Skeletal involvement in HRAS-related ENS ranges from localized bone dysplasia in association with KEN to fractures and limb deformities in CSHS. We describe the first association of HRAS-related ENS and auricular atresia, thereby expanding the disease spectrum with first branchial arch defects if affected by the mosaic variant. In addition, this report illustrates the first concurrent presence of verrucous EN, NS, and nevus comedonicus (NC), indicating the possibility of mosaic HRAS variation as an underlying cause of NC. Overall, this report extends the pleiotropy of conditions associated with mosaic pathogenic variants in HRAS affecting ectodermal and mesodermal progenitor cells.

Linear alopecia in pediatrics: RCM and dermoscopy reveal diagnostic cues.

BACKGROUND: Alopecia areata (AA), trichotillomania (TM), nevus sebaceous (NS), and linear scleroderma en coup de sabre (LSCS) can all present with a patch of linear alopecia, making diagnosis challenging. The purpose of this study was to combine reflectance confocal microscopy (RCM) and dermoscopy in the diagnosis of these lesions in children. METHODS: A total of 36 patients with linear alopecia were enrolled, of whom 14 had AA, seven had TM, nine had NS, and six had LSCS. We evaluated the characteristics and distinguishing features of the four conditions using RCM and dermoscopy. RESULTS: The key to differential diagnosis was the dermal Hair follicle density in the dermis was decreased in AA, and the size and density of the follicular openings were normal in TM. In NS, the major features were petal-like and frogspawn-like structures. In LSCS, dermal papillary rings, sebaceous glands, and follicles were partially or completely missing, and abundant fibrous material was distributed in the dermis. Dermoscopy revealed alopecia, and all four conditions resulted in decreased hair density. AA patients exhibited yellow dots, black dots, and exclamation mark hairs. TM patients presented with irregularly broken hairs and blood spots. Both NS and LSCS patients exhibited an absence of follicular openings; NS patients demonstrated whitish and yellowish round structures, while an atrophic area with white patches, linear vessels, and no yellow or black dots was observed in LSCS patients CONCLUSION: RCM combined with dermoscopy can provide additional information on disease states and differentiate between AA, TM, NS, and LSCS.

Ultrasound Imaging of Nevus Sebaceous of Jadassohn.

Nevus sebaceous of Jadassohn (NSJ) is a cutaneous hamartoma commonly found in the scalp and face and more frequent in children. Clinically, it presents as a yellowish and hairless plaque. In later stages, the NSJ can develop secondary tumors, including skin cancer. We reviewed the ultrasound characteristics of 9 patients (67% female; mean age, 3 years) with NSJ at 18 and 70 MHz. The ultrasound analysis covers the data on the location, thickness, echo structure, and vascularity. The provision of the ultrasound patterns of NSJ can support early diagnosis, avoid unnecessary biopsies, and support monitoring.

Laser treatment of epidermal nevi: A multicenter retrospective study with long-term follow-up.

BACKGROUND: Patients with epidermal nevi strongly demand cosmetic improvement. Laser treatment appears appealing and is frequently used in clinical practice. Nevertheless, large series with long-term follow-up are missing, preventing definitive conclusions about its real benefit. OBJECTIVE: To evaluate the long-term effectiveness and safety of lasers for epidermal nevi. METHODS: Bicentric, retrospective, cohort study, including all patients treated with a laser for an epidermal nevus with more than a 1-year follow-up. RESULTS: Seventy patients were treated for different types of epidermal nevi, mostly with ablative lasers: 23 verrucous epidermal nevi, 16 nevi sebaceous, 26 Becker nevi, 2 inflammatory linear verrucous epidermal nevi, 1 smooth-muscle hamartoma, 1 rounded and velvety epidermal nevus, and 1 nevus lipomatosus superficialis. The follow-up period was a median of 37 months (range, 12-127 months). Better results, fewer recurrences, and higher patient satisfaction were noted in treatments for verrucous epidermal nevi than for nevi sebaceous. Q-switched lasers failed to show any degree of improvement in almost all patients with Becker nevus. LIMITATIONS: The retrospective nature of the study. CONCLUSIONS: Ablative lasers can treat verrucous epidermal nevi with good long-term esthetic results but have limited long-term efficacy for nevus sebaceous. Q-switched lasers failed to improve Becker nevi.

Four pediatric cases of secondary neoplasms arising in nevus sebaceous.

Secondary neoplasms of epidermal adnexal origin have been reported to develop into nevus sebaceous (NS), mainly in adulthood but rarely in children. Four cases of secondary neoplasms were identified in 413 children of nevus sebaceous from 2015 to 2019 by our department, accounting for 1% of all cases. We here report the clinical, dermoscopical, and histopathological features of these tumors, including syringocystadenoma papilliferum (SCAP), pilomatricoma, trichilemmoma, and basal cell carcinoma (BCC). We recommend prophylactic excision of nevus sebaceous before puberty, not only because of the cosmetical disfigurement but also due to the risk of malignant transformation.

[Ocular manifestations and surgical treatment of the linear nevus sebaceous syndrome].

Objective: To report the clinical and pathological features and surgical treatment of the linear nevus sebaceous syndrome. Methods: It was a retrospective case series study. The clinical records of 11 patients (14 eyes) who were diagnosed as linear nevus sebaceous syndrome between April 2009 and February 2018 at Beijing Tongren Hospital were analyzed. Data collected included sex, age, clinical manifestations, disease site, pathological features, surgical treatment and therapeutic effects. Results: There were six males and five females, aged 6 months to 7 years (mean, 2.8 years). The nevus sebaceous was located at the head (9 patients), face (5 patients) and neck (3 patients). The most common ocular manifestations were blepharocoloboma (13 eyes) and external ocular mass (9 eyes). Surgical treatment was performed in 9 patients (11 eyes), including lid reconstruction in all these eyes, corneal and conjunctival mass resection in four patients (4 eyes), eyelid tumor resection in 5 patients (5 eyes), and symblepharon separation and conjunctival sac reconstruction in 3 patients (5 eyes). Pathological examinations of the external ocular, corneal and conjunctival masses (6 eyes) confirmed the diagnosis of complex choristoma. All operated patients had improved appearance. Conclusions: Linear nevus sebaceous syndrome has characteristic cutaneous lesions and ocular manifestations. Histopathologically, all epibulbar lesions prove to be complex choristomas. The appearance of patients with linear nevus sebaceous syndrome can be significantly improved by oculoplastic surgery. (Chin J Ophthalmol, 2020, 56: 846-852).

Epidermal nevus syndromes: New insights into whorls and swirls.

Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous epidermal nevi, and cutaneous-skeletal hypophosphatemia syndrome. We will discuss how newly defined mutations relate to the biology reflected in the cutaneous patterns seen in these mosaic disorders and how new molecular data has informed our understanding of these diseases and shaped management decisions.

A Giant Nevus Sebaceous Lesion in an 18 Year-Old Male: A Case Report.

A nevus sebaceous is a rare type of lesion that most often occurs on the scalp but can appear anywhere on the head, face, neck, forehead, or scalp. Nevus sebaceous is benign lesion usually resulting from hyperplasia of different elements of the skin such as epithelial, sebaceous, follicular elements. This article discusses a patient with giant nevus sebaceous lesions on his scalp and right ear. An 18-year-old man came to the Plastic Surgery Outpatient Department, Shiraz University of Medical Sciences, Shiraz, Iran with a large gray brown Nevus like lesions on his scalp and on the right periauricular region. Both lesions gradually increased in size over the time, leading to giant papillomatosis lesions. The patient had no manifestations like pain or other symptoms. The operation was planned, and lesions excised and repaired with Local Flap and Full thickness skin graft, the patient was discharged after a day. After surgery, recovery was good and after 3 months there was no relapse and cosmetic result was excellent. This article shows the importance of surgery role in nevus sebaceous patients and discusses different types of treatments.

Facial Soft Tissue Lesions in Children.

Facial soft tissue lesions in children are often classified based on their structure or cellular origin and can be benign or malignant. This review focuses on common facial soft tissue lesions in children, their clinical morphology, natural history, and medical and surgical management, with an emphasis on those considerations unique to soft tissue lesions present at this anatomic site.

Basal cell carcinoma arising within nevus sebaceous on the right scalp in a 55-year-old male: A case report and review of literature.

We report here a case of nevus sebaceous in a 55-year-old male, who presented with a 50-year history of an asymptomatic swelling in his right scalp. The solitary, yellowish, expansile plaque over the scalp gradually became lobulated and turned dark-pigmented with spontaneous bleeding, itching discomfort, and occasional ulceration after scratching. The male's clinical presentation and histopathological findings were compatible with basal cell carcinoma arising in nevus sebaceous. At present, 5-aminolevulinic acid photodynamic therapy (ALA-PDT) emerges as a novel treatment modality which has proved safe and effective. In this case, three sessions of photodynamic therapy in combination with surgical excision were performed, leaving mild pigmentation within 3 weeks. The patient showed good cosmetic outcome, minimal scarring on the right scalp without further complications, disease recurrence or metastasis after ALA-PDT within six months.

Managing a Misdiagnosed Case of Nevus Sebaceous.

A male patient in his early 20s presented to our outpatient clinic, having previously been misdiagnosed and unsuccessfully treated as a case of viral warts. Dermoscopic and histopathological evaluations revealed characteristic features of the nevus sebaceous. The lesion was eventually treated with an erbium-doped yttrium aluminum garnet (Er:YAG) laser after the patient declined surgical excision. Nevus sebaceous often presents with verrucous surfaces that make misdiagnosis common. A correct diagnosis is crucial due to potential neoplastic transformations. Histopathological analysis is essential for both the confirmation of disease and the exclusion of malignancy. Full-thickness surgical excision remains the preferred treatment.

Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and KRAS mutation: a current review and novel case report.

INTRODUCTION: Schimmelpenning-Feurstein-Mims Syndrome (SFMS) is a rare neurocutaneous disorder. Herein, we describe a novel case and review the phenotypic spectrum and molecular findings of SFMS from an ophthalmology perspective. METHODS: Clinical case including presentation, management, pathology, and genetic analysis is described. A literature search on Schimmelpenning-Feuerstein-Mims and its synonyms, Linear nevus sebaceous syndrome, Organoid nevus syndrome, Jadassohn nevus phacomatosis, and Solomon syndrome, was conducted. An updated review and description of published cases with identified genetic mutations are described. RESULTS: A 13-year-old boy with SFMS presented with acute right eye pain and an enlarging orbital mass. Excisional biopsy of the mass revealed an orbital choristoma. Genetic analysis of the orbital tumor confirmed a KRAS c.35 G>A, p.G12D mutation. A literature search revealed 19 cases of SFMS with mutations in the RAS-pathway. KRAS, HRAS, and NRAS mutations were identified in 74%, 21%, and 5% of patients, respectively. Ophthalmic pathology was seen in 83% of patients. Systemic findings varied and involved the skin, central nervous system, and eyes most commonly. DISCUSSION: SFMS, a rare neurocutaneous disorder, results from postzygotic mosaic mutations in the RAS/MAPK pathway. Patients present with various systemic findings and ophthalmic manifestations occur in most cases. This is the first case description of a KRAS mutation identified in an orbital choristoma in SFMS. The disease is described under various names in the literature, and we propose that all syndromic cases with mosaic RAS mutations be reported under the eponym, SFMS.

Two Cases of Pigmented Basal Cell Carcinoma in African American Patients.

Basal cell carcinoma (BCC) is the most common cutaneous malignancy, comprising approximately 80% of non-melanoma skin cancers. There are numerous subtypes, including pigmented basal cell carcinoma (pBCC), a rare clinical and histological variant. Skin cancers in African American patients, although rare, still do occur. BCC is an uncommon neoplasm in this population, but when it does occur, pigmentation is present in more than 50% of tumors compared with only 5% to 6% of BCCs in Caucasians. This report presents two cases of histologically verified pBCC in African American patients from dermatology clinics at the Veterans Affairs Hospital located in the Texas Medical Center. With the population of the United States growing more diverse, these cases emphasize the importance of recognizing the nuanced morphology of BCC in the skin of color compared to lighter-skinned counterparts. This is especially necessary, as early detection and prompt management are key to combating the disproportionately high morbidity and mortality related to skin cancers affecting patients of color.

Linear Nevus Sebaceous Syndrome: Clinical Presentation and Management Considerations.

A relatively rare neurocutaneous condition known as linear nevus sebaceous syndrome (LNSS) is marked by a variety of symptoms as well as the unusual characteristics of developing mosaic RASopathies of phacomatoses. Mental retardation, seizures, and midline facial linear nevus sebaceous were the usual diagnostic triad. A hallmark of LNSS is the papillomatous growth of the epidermis, also known as nevus sebaceous. In this case report, we presented a case of a 13-year-old male with LNSS with a vascular conjunctival lesion and a coloboma of the optic disc.

Minimally Invasive Plasma Device Management of Multiple Benign Skin Cancers Associated with Rare Genodermatoses-Case Series and Review of the Therapeutic Methods.

Background: Non-melanocytic benign skin tumours encompass a diverse group of lesions, classified based on their cellular origin, such as epidermal, vascular, fibrous, neural, muscle, and adnexal tumours. Though they often reveal solitary lesions, multiple skin tumours focus on genodermatoses. Each syndrome exhibits distinct clinical characteristics and potential complications, including cutaneous and extra-cutaneous malignancies, some of which are potentially life-threatening. Diagnosing genetic syndromes is complex and requires numerous histopathological and immunohistochemistry tests due to similarities between the adnexal tumours and basal cell carcinoma upon pathology. Methods: To illustrate the clinical practice, we conducted a retrospective case study that included eleven patients with genodermatoses referred to a tertiary dermatology clinic from September 2018 to April 2024. We have also conducted a research study on available treatment modalities in this setting. Results: Five patients with excellent aesthetic results were treated using a recently approved FDA plasma device. After searching SCOPUS and PubMed database records, we assessed 96 original articles to present current knowledge regarding the dermato-surgical approach. Conclusions: Multiple skin tumours, especially on the face, may significantly affect patients' quality of life and have psychological consequences. An appropriate treatment selection tailored to the patient's needs should be provided. There is no standardised treatment for multiple benign tumours in genodermatoses, and selected methods with varying efficacy are employed. We presented the utility of a new plasma device in these settings.

Therapeutic effects of CO2 laser therapy of linear nevus sebaceous in the course of the Schimmelpenning-Feuerstein-Mims syndrome.

The Schimmelpenning-Feuerstein-Mims (SFM) syndrome is a rare phakomatosis which comprises a nevus sebaceous of Jadassohn, seizures and developmental delay associated with a wide spectrum of extracutaneous abnormalities including neurological, skeletal, ocular, cardiovascular and urogenital defects. We are presenting a case of an 18-year-old patient with systemic features of the SFM syndrome and an extensive linear nevus sebaceous partially removed with a carbon dioxide (CO2) laser. The treatment options of skin lesions in patients with SFM are discussed.

Case Report: Leathery black plaque on the temple and scalp.

Background: Epidermal nevus sebaceous, commonly known as the nevus sebaceous of Jadassohn, is a congenital sebaceous hamartoma. It typically manifests as a single yellowish plaque across the head and neck and is composed of sebaceous glands. It commonly occurs during infancy and grows during puberty. Usually, it follows a benign course; however, in a few cases, it can be malignant. This is the case of a 13-year-old child with verrucous plaques on the temple and scalp. Case report: We report the case of a 13-year-old boy with a steadily developing hyperpigmented verrucous plaque on the scalp and ipsilateral side of his face. A dermoscopic examination revealed ridges and fissures in a cerebriform pattern with yellowish-gray globules and a papillary appearance. Physical examination and laboratory tests revealed no abnormalities. Biopsies were taken from the scalp and temple area, and the findings were consistent with the diagnosis of nevus sebaceous. The patient was referred to a plastic surgeon for a staged excision. Conclusions: We describe a unique example of a sebaceous nevus that affected the scalp and ipsilateral side of the face. As this hamartomatous growth carries the risk of cancer development, a dermatologist must identify the condition and begin treatment before malignant transformation occurs. This example of multiple verrucous plaques is an exception.