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Muir-Torre syndrome (MTS) is characterized by sebaceous neoplasms with internal malignancies and regarded as a variant of hereditary nonpolyposis colorectal cancer (HNPCC). Pathogenic variations of MTS have been identified in the MSH2, MLH1, and MSH6 genes, with the majority of variations located in MSH2. To present an MTS patient who was the only individual with skin malignancies within a cancer-prone pedigree and to showthe usefulness ofRNA-based genetic analysis in the investigation of MTS. A 77-year-old man who had operated X-ray equipment at his workplace in his twenties was clinically diagnosed with MTS and investigated by RNA-based analysis, multiplex ligation-dependent probe amplification, and genomic DNA sequencing. The patient had suffered from sebaceous tumours, squamous cell carcinomas of the skin, and colon cancer. The patient’s family history was remarkable for visceral malignant diseases. Genetic analysis revealed homologous recombination between two Alu elements within intron 4 and 5 of the MLH1 gene. The rearrangement caused a 1,222-bp deletion, including the entire exon 5. Deletion of exon 5 has previously been reported only in two patients with HNPCC, and not in patients with MTS. For the genetic analysis of MTS, the possibility of rare copy number variations of MLH1, as well as MSH2 variations, should be considered. RNA-based screening using puromycin is recommended in order to identify such variations. It remains unclear why only the proband among the pedigree had skin malignancies, however, the skin carcinogenesis might have been related to occupational radiation exposure.

Nonepisodic angioedema with eosinophilia (NEAE) is a rare condition characterized with monoepisodic angioedema, a nonfebrile state, eosinophilia, normal serum IgM levels, and lack of internal organ involvement. The histology of this disease is not yet well known. The purpose of this study was to characterize the histopathologic features of NEAE. Twelve cases of clinically confirmed NEAE were retrieved from 6 institutions, and these cases were reviewed regarding the clinical data and histopathology, particularly regarding granulomatous lesions. The authors demonstrated that the histology of NEAE can be classified into 3 patterns that of eosinophilic granulomatous panniculitis (7/12 cases), eosinophilic dermatitis without granuloma formation (3/12 cases), and invisible dermatosis (2/12 cases). Six of the 7 granulomatous cases showed the characteristic eosinophilic granulomatous lesions containing individual necrotic adipocytes with membranous fat changes, which could be a differential clue to the diagnosis of NEAE. Review of the previously reported cases (n = 37) revealed that the histological classification could be adaptable to these reported cases. The authors should recognize the histological variation of NEAE and distinguish it from the histological mimickers, including eosinophilic granulomatosis with polyangiitis, erythema nodosum, hypereosinophilic syndrome, and episodic angioedema with eosinophilia.

53歳,男性。1999年に左下腿,2002年に右下腿の皮疹が出現。臨床的に,表面凹凸不整な褐色の肉芽腫様浸潤性局面があり,多数の瘻孔が開口していた。病理組織では,表皮索の延長,角質を含む嚢腫の形成,真皮·皮下組織の慢性炎症像等を認め,慢性膿皮症と診断した。自験例では両下腿に限局して病変が認められ,陰股部,腋窩,項部,頭部等,慢性膿皮症の好発部位には同皮疹は認められなかった。

The reversed-phase liquid chromatography of structural isomers of alkylphenols has been studied. Octyl-bonded silica gel was useful as stationary phase and addition of a trace of triethylamine to the eluent was effective for this purpose. The separation of nine structural isomers of alkylphenols, ethylphenols and xylenols, was accomplished by such liquid chromatographic system. Thus the good reproducibility of the capacity ratios was obtained. The increase of retention of the solute was not observed by addition of the ion-pair reagent to the eluent.

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