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This article discusses a case of normolipemic xanthoma associated with folliculotropic mycosis fungoides (fMF), a variant of mycosis fungoides. The patient, a 60-year-old Japanese man, presented with yellowish masses and patchy alopecia on the scalp, as well as follicular papules on the trunk and extremities. Trichoscopy and histological analysis revealed mucin deposition, lymphocyte and eosinophil infiltrations, and dense infiltration of histiocytes mixed with eosinophils and lymphocytes. The article suggests that the tumour microenvironment triggers histiocyte infiltration, which may lead to xanthoma formation. The case highlights the challenges in diagnosing fMF due to excessive granulomatous/xanthomatous components and emphasizes the importance of a comprehensive assessment for a definitive diagnosis. [Extracted from the article]

The diagnosis of hereditary skin tumors is difficult for "old" diagnostic tools such as immunohistochemistry. Whole-exome sequencing analysis as a "new" diagnostic tool enables us to make a final diagnosis in spite of unknown hereditary diseases in the past. Hereditary leiomyomatosis and renal cell cancer are autosomal dominant hereditary cancer syndromes characterized by uterine myomas, cutaneous leiomyomas, and aggressive renal cell cancer. The syndrome is associated with pathogenic germline variants in the fumarate hydratase gene. Herein, we demonstrate a pathogenic germline variant of the fumarate hydratase gene in a 60-year-old woman with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer. Whole-exome sequencing analysis using genomic DNA extracted from peripheral blood leukocytes revealed one germline variant in the FH gene on chromosome 1 (c.290G>A, p.Gly97Asp). She received total hysterectomy due to uterine myoma, which strongly supported the diagnosis. No tumor was detected in her kidney by computed tomography and ultrasound examination. Genetic examination for the mutation of the fumarate hydratase gene is important in order to reach the correct diagnosis and to detect renal cancer at its early stage. [ABSTRACT FROM AUTHOR]

Acute zoster‐associated pain develops in most patients with herpes zoster. Nonopioid analgesics are usually used to treat acute zoster‐associated pain but are frequently ineffective. We administered intravenous fosphenytoin, the prodrug of phenytoin, to patients with acute zoster‐associated pain to examine its analgesic efficacy and safety. At 13 medical institutions in Japan, we conducted a phase II, double‐blind, placebo‐controlled, randomized trial of intravenous fosphenytoin in Japanese inpatients with acute zoster‐associated pain for whom nonopioid analgesics had shown an insufficient analgesic effect. The patients were randomly assigned (1:1:1) to receive a single intravenous dose of fosphenytoin at 18 mg/kg (high dose), a single intravenous dose of fosphenytoin at 12 mg/kg (low dose), or placebo. The primary endpoint was the mean change per hour (slope) in the numerical rating scale score from the baseline score until 120 min after dosing. Seventeen patients were randomly assigned to the low‐dose fosphenytoin group (n = 6, median age 62.5 years, range 39–75 years), high‐dose fosphenytoin group (n = 5, median age 69.0 years, range 22–75 years), and placebo group (n = 5, median age 52.0 years, range 38–72 years). One patient was excluded because of investigational drug dilution failure. This study was discontinued because of the influences of coronavirus disease 2019. The slope was significantly lower in the high‐ and low‐dose fosphenytoin groups than in the placebo group (P < 0.001 and P = 0.016, respectively). Responsiveness to intravenous fosphenytoin (≥2‐point reduction in the numerical rating scale score from baseline to 120 min after dosing) was inferred at plasma total phenytoin concentrations of 10–15 μg/mL. Treatment‐emergent adverse events caused no safety concerns in the clinical setting and intravenous fosphenytoin was well tolerated. Intravenous fosphenytoin appears to be an effective and promising alternative treatment for acute zoster‐associated pain. Trial Registration: ClinicalTrials.gov NCT04139330. [ABSTRACT FROM AUTHOR]

A case of cytoplasmic anaplastic lymphoma kinase (ALK)‐positive anaplastic large cell lymphoma (ALCL) initially involving the skin in a 44‐year‐old Japanese female is reported. The patient had a hemorrhagic erythematous tumor on the right thigh without any systemic symptoms. Pathology showed diffuse infiltration of CD30‐positive anaplastic large cells positive for epithelial membrane antigen and cytoplasmic ALK. The right inguinal lymph node showed infiltration of tumor cells in the marginal sinus. Only 2 weeks after radiation therapy, the patient developed multiple subcutaneous nodules and lung involvement. Even after subsequent multichemotherapy sessions, cutaneous recurrence occurred. Literature review of cytoplasmic ALK‐positive ALCL initially involving in the skin revealed that skin lesions were mostly seen in the extremities and that half of the cases developed extracutaneous lesions. Radiation and chemotherapy were effective for most cases. Inverse RT‐PCR identified a tumor necrosis factor receptor‐associated factor (TRAF)1‐ALK fusion in our case. Most reported cases with this translocation experienced repeated changes in chemotherapy, suggesting poorer prognosis. Although ALK‐positive ALCL generally responds well to chemotherapy, the presence of a TRAF1‐ALK fusion may suggest resistance to treatment. Detection of fusion partners of ALK is important for predicting clinical courses and deciding treatment options. [ABSTRACT FROM AUTHOR]

Hydroa vacciniforme lymphoproliferative disorder (HV‐LPD) and severe mosquito bite allergy (SMBA) are both cutaneous forms of Epstein–Barr virus (EBV)‐associated T/natural killer (NK) cell LPDs and are closely related to chronic active EBV disease (CAEBV) and EBV‐associated hemophagocytic lymphohistiocytosis (EBV‐HLH). HV‐LPD is further divided into classic HV, a benign subtype mediated by EBV‐positive γδT cells, and systemic HV, another life‐threatening subtype mainly associated with EBV‐positive αβT or γδT cells. The vast majority of patients with SMBA have increased numbers of EBV‐infected NK cells in the blood. Clinical symptoms of HV‐LPD and SMBA often overlap in the same patient and may progress to more serious disease conditions equivalent to the systemic form of CAEBV. To define the disease spectrum of HV‐LPD and SMBA, we propose the diagnostic criteria and the determination criteria for disease severity. The proposed diagnostic criteria are consistent with those for CAEBV and EBV‐HLH in the guidelines for the management for CAEBV and related disorders 2023. [ABSTRACT FROM AUTHOR]