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In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. The persistence of ganglion cells made both the diagnosis and treatment difficult in the neonatal period. She also showed hypopigmentation of the irises, hair and skin, bilateral sensorineural deafness with hypoplastic inner year, severe demyelinating neuropathy with hypotonia, and diffuse brain hypomyelination. The p.Ser282GlnfsTer12 mutation presumably escapes from nonsense-mediated decay and may generate a dominant-negative effect. We suggest that hypoganglionosis can be a variant intestinal manifestation associated with PCWH and that hypoganglionosis and aganglionosis may share the same pathoetiological mechanism mediated by SOX10 mutations.

Atypical hemolytic uremic syndrome (aHUS), which is defined as non-Shiga toxin-associated hemolytic uremic syndrome, is a type of thrombotic microangiopathy. This syndrome presents with hemolytic anemia, thrombocytopenia, and acute kidney injury. Excessive complement activation due to genetic disorders of the complement system or production of autoantibodies to factor H (FH) causes the disease. We report a successful treatment course using eculizumab and recombinant human soluble thrombomodulin (rTMD) for a 7-year-old girl with aHUS due to anti-FH autoantibodies. Although her chief complaints were abdominal pain and loose stools, we were finally able to diagnose her with aHUS because Shiga toxin-producing Escherichia coli was not detected in her feces and a hemolytic assay analyzing FH function was positive. We administrated rTMD to our patient because of signs of disseminated intravascular coagulation. Soon after the therapeutic intervention, the platelet count began to increase and abdominal pain was moderately improved. Plasma exchange limited the efficacy of her disease. Therefore, we administered eculizumab, monoclonal humanized antibody against C5, 3 weeks after admission. Platelet counts immediately increased and kidney function gradually recovered. Genetic disorders were not detected. However, anti-FH autoantibody was observed. There were no symptoms for recurrence of aHUS or kidney dysfunction for 15 months, as a result of the administration of eculizumab every other week. In conclusion, combination therapy of eculizumab and rTMD was effective for an aHUS patient. This therapy may be helpful for improving the prognosis and long-term kidney function of aHUS patients.

Personality and emotional factors are supposed to influence the course of skin diseases, such as psoriasis and atopic dermatitis. Few reports exist, however, showing distinct personality traits among patients with psoriasis, atopic dermatitis patients and healthy controls. The aim of the present study was to examine personality differences among psoriasis patients, atopic dermatitis patients and healthy controls in Japan. A total number of 51 psoriasis patients, 97 atopic dermatitis patients and 48 healthy individuals were enrolled in the study. Questionnaires of Yatabe-Guilford Personality Inventory were administered individually. These groups were evaluated by 12 dimensions of temperaments. According to the dimension scores, personality was defined as five groups. Atopic dermatitis patients showed significantly higher scores regarding temperaments of depression, feelings of inferiority, nervousness and lack of objectivity than psoriasis patients. Regarding a temperament of cyclic tendency and lack of cooperativeness, female atopic dermatitis patients showed significantly higher scores than female psoriasis patients. Regarding general activity, female atopic dermatitis patients showed significantly lower scores than those of female psoriasis patients. No significant difference in scores of temperaments of lack of agreeableness, rhathymia, thinking extraversion, ascendance and social extraversion were detected among psoriasis patients, atopic dermatitis patients and healthy controls. The personalities of male psoriasis patients were significantly different from those of atopic dermatitis patients and healthy controls. Female psoriasis patients showed a significantly different personality profile from that of atopic dermatitis patients, but not from healthy controls. Japanese psoriasis and atopic dermatitis patients show distinct personality profiles suggesting that specific a psychosomatic approach may be required during the treatment.

57歳女性。初診の約2年前に左踵内側の褐色局面に気付いた。以後大きさ, 色調に変化はなかった。当科初診時, 同部に8.9×11.9×1.0mm大の, 淡褐色～褐色の扁平隆起性局面を認めた。全摘して組織学的に検討した。表皮には基底層部にメラノサイトの軽度の増数が見出され, 真皮浅層には顕著な線維化層が広範に認められた。この線維化層の下の真皮中深層部に異型細胞の増殖巣が見出され, 免疫染色にてS-100, MART-1陽性, HMB45陰性であった。組織学的に診断困難であったが, 悪性黒色腫を否定できないと考え, 原発巣の拡大再切除とセンチネルリンパ節生検を施行した。センチネルリンパ節の実質辺縁部にMART-1とHMB45陽性の細胞が数個散在性に見出された。本症例を悪性黒色腫と考え, 原発切除創周囲にインターフェロンβ蛋白の局注を施行している。

It is well established that the n-3 polyunsaturated fatty acids influence lipid metabolism and reduce the serum triacylglycerol level. We previously reported that a dietary diacylglycerol rich in α-linolenic acid (ALA-DAG) significantly reduced body fat. In this study, we investigated the effects of the ingestion of ALA-DAG (2 g/day) for 12 weeks on body fat (test 1), lipid metabolism after ingestion for 6 weeks (test 2), and resting metabolism after ingestion for 6 weeks (test 3). The visceral fat area determined by computed tomography decreased significantly (11.3%, p

1981年から1990年の10年間に教室で経験したボーエン病30例およびボーエン癌2例について統計的に検討した。単発例26, 多発例6で, 男女差はなく, 70歳代に多い。好発部位は, 下肢8, 上肢7, 陰部, 体幹が各4の順である。内臓悪性腫瘍は32例中4例 (子宮頸癌, 耳下腺癌, 食道癌+胃癌, 前立腺癌) にみられ, 全例が単発例だった。多発例は6例中3例に砒素の関与が疑われた。また一般に, ボーエン病に合併する悪性腫瘍は皮膚癌が多く, 以下乳癌, 胃癌, 子宮癌の順だった。興味ある教室の4例をあわせて報告した。