Differences in clinical characteristics and lesion proteomics between inflammatory linear verrucous epidermal nevus and local verrucous epidermal nevus.

BACKGROUND: Verrucous epidermal nevus (VEN) are keratinocytic epidermal nevus that appear at birth or in early childhood. They exhibit a range of manifestations, depending on the patient's age. VEN are rarely encountered in clinical practice, and the systemic and comprehensive clinical characteristics of VEN have not been well investigated. Furthermore, the association between tandem mass tag (TMT)-based quantitative proteomics and the VEN phenotype is still unclear. OBJECTIVES: This study investigated the differences in the clinical characteristics and lesion proteomics between inflammatory linear VEN (ILVEN) and local VEN. METHODS: This retrospective study enrolled 125 patients with histopathologically diagnosed VEN who presented to our hospital between 2019 and 2021. We collected the clinical data of all patients with VEN using a self-designed questionnaire. The expression of proteins in VEN lesions was analyzed using TMT proteomics technology. RESULTS: In total, there were 125 patients with VEN that were evaluated, including 67 (53.60%) patients with local VEN and 58 (46.40%) with ILVEN. No significant differences were found in sex, onset age, and lesion location between patients with local VEN and those with ILVEN (all P > 0.05). Significant differences were found in the onset site and pruritus scores between patients with ILVEN and those with local VEN (all P < 0.05). According to the TMT proteomics results, 89 proteins were up or downregulated with at least 1.3-fold (upregulated: 38, downregulated: 51; P < 0.05) in ILVEN lesions relative to VEN lesions. The top 10 differentially expressed proteins between ILVEN and local VEN lesions were OGN, NT5C3A, ADD1, OLFML1, DHRS1, CALML5, SAMHD1, SFRP2, SPRR1B, and SERPINB13. The upregulated proteins are mainly involved in neutrophil activation, neutrophil-mediated immunity, and p53 signaling pathway (hsa04115). The downregulated proteins are mainly involved in cellular response to cytokine stimulus, cell adhesion, Th1 and Th2 cell differentiation. In total, based on the differentially expressed proteins between ILVEN and local VEN, five pathways that may be associated with the pathogenesis of inflammation, including CAMs (P = 0.006), Th1 and Th2 cell differentiation (P = 0.017), PPAR signaling pathway (P = 0.023), Th17 cell differentiation (P = 0.024), and p53 signaling pathway (P = 0.041). CONCLUSIONS: Clinical data of the patients revealed that ILVEN lesions presented with intense pruritus and inflammatory change. Differentially expressed proteins between ILVEN and local VEN are mainly involved in multiple inflammation related pathways associated with the pathogenesis mechanisms of pruritus. LIMITATIONS: The small sample size in clinical characteristic and proteomics study is one of the most significant limitations in our study. The inflammation associated proteins and signal pathways in the pathogenesis of pruritus in ILVEN is not explored. SIGNIFICANCE: In this study, we found the lesions of ILVEN patients presented with intense pruritus and inflammational change. A total of 89 proteins were up or downregulated with at least 1.3-fold (upregulated: 38, downregulated: 51; P < 0.05) in ILVEN lesions relative to VEN lesions. On the other hand, the etiology of itch in ILVEN mainly associated with inflammation, but the exact mechanisms was still unclear. We found the differentially expressed proteins between ILVEN and local VEN enriched five pathways that may be associated with the pathogenesis of inflammation and pruritus.

Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome.

Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. We report the case of an 8-year-old female patient with a yellowish verrucous plaque on the left temporal area extending ipsilaterally to the cervical region, combined with cicatricial alopecia, periocular nodule, and epibulbar tumors.

Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome

Abstract Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. We report the case of an 8-year-old female patient with a yellowish verrucous plaque on the left temporal area extending ipsilaterally to the cervical region, combined with cicatricial alopecia, periocular nodule, and epibulbar tumors.

Is Schimmelpenning Syndrome Associated with Intracranial Tumors? A Case Report.

Schimmelpenning syndrome is a rare, well-defined constellation of clinical phenotypes associated with the presence of nevus sebaceous and multisystem abnormalities most commonly manifested as cerebral, ocular, and skeletal defects [1]. A single nucleotide mutation in the HRAS or KRAS genes resulting in genetic mosaicism is responsible for the clinical manifestations of this syndrome in the majority of cases. We report a case of an adolescent boy with Schimmelpenning syndrome with a multifocal pilocytic astrocytoma. No HRAS or KRAS gene mutations were noted in the tumor on genetic sequencing. However, glial tumors have been associated with genetic mutations of RAS upregulation, which may imply a common pathway.

Choroid Osteoma in Schimmelpenning-Feuerstein-Mims Syndrome.

BACKGROUND: Schimmelpenning syndrome is a multisystem disorder. CASE CHARACTERISTICS: A term female neonate with sebaceous nevi of the face had choroid osteoma of the right eye. OBSERVATION: At one month of age, the infant was observed to have choroidal neovascularization that was successfully treated with laser photo-coagulation and anti-VEGF. MESSAGE: Choroid osteoma and neovascularization are rare associations of Schimmelpenning syndrome, and should be screened for and managed early.

Successful treatment of verrucous epidermal nevus with fractional micro-plasma radio-frequency technology and photodynamic therapy.

Verrucous epidermal nevus (VEN) is a skin disorder that commonly presents at birth; it is characterized by skin-colored to brown verrucous papules in a linear distribution following Blaschko's lines. Even though it is extremely rare, VEN has been associated with malignant transformation. VEN has been treated by different treatment modalities with varying and frustrating results. We introduce a new type of treatment. The fractional micro-plasma radio-frequency (RF) technology, which uses unipolar RF technology to provoke plasma spars, creating multiple controlled micro-perforations on the skin. Photodynamic therapy (PDT) is a type of technology for disease diagnosis and treatment, in which a photosensitizer gathers within the nidus and kills the diseased cells. In this report, we present a case of VEN that was successfully treated with fractional micro-plasma RF technology and PDT without side effects or complications; a follow-up was conducted after 24 months and no signs of recurrence were observed.

Inflammatory linear verrucous epidermal nevus associated with erosive monoarthritis.

Inflammatory linear verrucous epidermal nevus and linear psoriasis are different entities with clinical and histopathologic similarities. Isolated reports of inflammatory linear verrucous epidermal nevus with concomitant psoriasis or a positive family history of psoriasis have been described, and the possibility that inflammatory linear verrucous epidermal nevus may be a mosaic form of cutaneous psoriasis has been postulated. We report a 17-year-old boy with a congenital, linear, erythematous, keratotic plaque on the dorsum of the fifth finger of the left hand with ipsilateral nail dystrophy. Histopathologic examination showed epidermal hyperplasia with alternating orthokeratosis and parakeratosis. During follow-up, he developed erosive monoarthritis of the distal interphalangeal joint. This case seems to confirm the association between inflammatory linear verrucous epidermal nevus and arthritis and supports a possible relationship between inflammatory linear verrucous epidermal nevus and psoriasis.

Syringocystadenoma papilliferum and trichoblastoma arising in the nevus sebaceous.

Nevus sebaceous (NS) is a clinically common benign tumor and has a high potential to develop into a great diversity of neoplasms of epidermal and adnexal origins. However, it is a rare phenomenon of the coexistence in a single NS with two or more skin tumors. We report a case of a 58-year-old woman with two kinds of neoplastic proliferation including syringocystadenoma papilliferum and trichoblastoma arising in NS on the scalp.

Rare desmoplastic trichilemmoma associated with sebaceous nevus.

Nevus sebaceous of Jadassohn is a congenital hamartoma that usually affects the scalp and face. Several benign or malignant neoplasias may develop in the lesion and the most common are trichoblastoma, syringocystadenoma papilliferum, and basal cell carcinoma. Trichilemmoma is a benign solid tumor originating from external sheath cells of pilosebaceous follicles. When it is characterized by a central zone of desmoplasia, it is called desmoplastic trichilemmoma. We report a case of a 58-year-old patient who developed a tumor in a sebaceous nevus. We performed a total excision of the lesion. Histopathological diagnosis was compatible with desmoplastic trichilemmoma. Our literature review reveals that the occurrence of trichilemmoma desmoplastic is unusual. Moreover, it can mimic an invasive carcinoma on histological and clinical examinations. This fact confirms the importance of reporting the occurrence of this rare cancer in a nevus sebaceous of Jadassohn.