Is CANDLE the best nomenclature?
Is CANDLE the best nomenclature?
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CANDLE 是最好的命名法吗？
DOI：
10.1111/bjd.12962
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
et al
中科院分区：
文献类型：
--
作者：
Kanazawa N;Kunimoto K;Ishii N;et al
亲爱的编辑，我们怀着极大的兴趣阅读了Kluk等1例CANDLE（慢性非典型嗜中性皮肤病伴脂肪营养不良和体温升高）综合征的报告。正如他们在手稿中所描述的，CANDLE综合征与JMP（关节挛缩、肌肉萎缩、小红细胞性贫血和脂膜炎诱导的脂肪营养不良）综合征和Nakajo-Nishimura综合征具有相同的临床表现和遗传起源。然而，他们在没有任何明确鉴别的情况下将孟加拉病例诊断为CANDLE综合征。由于该患者是第一例出现PSMB 8基因新型突变（M117 V）的孟加拉病例，我们认为应该仔细确定她对三种综合征中任何一种的分类。然而，尚未建立CANDLE综合征的临床诊断标准。虽然“CANDLE”最初被定义为一种嗜中性皮肤病，但孟加拉患者的组织学图片显示没有大量的嗜中性浸润，而与Nakajo-Nishimura综合征相似。2，3 Nakajo-Nishimura综合征的8个特征性特征中，有5个被认为是明确诊断所必需的，（常染色体隐性遗传，结节性红斑，反复尖峰热，部分脂肪肌萎缩），（肝脾肿大）在孟加拉病例中不存在，而其余三个特征（肛样皮疹;长、杵状手指和基底节钙化）未报告，因此未进行鉴别诊断。也未报告在JMP综合征中特别观察到的1、3次癫痫发作。1，4 2010年，西班牙皮肤科医生Torrelo及其同事报告了4例青少年患者，他们表现为早发性反复发热、环状紫色斑块、持续性紫色眼睑肿胀、低体重和身材矮小、脂肪营养不良、肝肿大、慢性贫血、急性期反应物升高和肝酶升高。2此外，病变皮肤具有典型的组织学特征，伴有髓系非典型单核细胞和成熟中性粒细胞的浸润。虽然这些临床和组织学特征与Nakajo-Nishimura综合征相似，但他们在文献中找不到任何类似的病例，并将这种疾病指定为一种新的CANDLE综合征。令人惊讶的是，在同一年，在另一种疾病JMP综合征中发现了第一个PSMB 8突变（T75 M），该疾病与Nakajo-Nishimura综合征相似，但与其症状的分层聚类分析不同。4，5在日本，有一个明显的长期的历史，疾病表现出CANDLE和JMP综合征的特点。1939年，日本皮肤科医生Nakajo首次将3例家族性患者描述为“继发性肥厚性骨骨膜增生症伴冻疮”，1950年，Nishimura等将该疾病应用于另外3例家族性病例，并提出其遗传性。这导致在1985年提出了一个新的实体，“一个综合征结节性红斑，延长和增厚的手指，和消瘦”，根据审查11例，包括Nakajo和Nishimura报告。6因此，在2011年报告了这些日本病例中独特的PSMB 8突变（G201 V）后，为这种疾病新选择了“Nakajo-Nishimura综合征”的名称，该名称来自旧注册的ORPHA 2615，描述为“肌萎缩性脂肪组织异常”，以表彰其先驱。
DEAR EDITOR, We read with great interest the report of a case of CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome by Kluk et al. 1 As they described in the manuscript, CANDLE syndrome shares clinical manifestations and genetic origin with JMP (joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy) syndrome and Nakajo–Nishimura syndrome. However, they diagnosed their Bangladeshi case as CANDLE syndrome without any clear differentiation. Because the patient was the first Bengalese case with a novel mutation of the responsible PSMB8 gene (M117V), we believe that her classification into any of the three presented syndromes should have been carefully determined. However, no diagnostic criteria have been established for clinical diagnosis of CANDLE syndrome. Although the designation ‘CANDLE’was originally defined for a kind of neutrophilic dermatosis, the histological picture of the Bengalese patient showed no abundant neutrophilic infiltration and rather resembles that of Nakajo–Nishimura syndrome. 2, 3Among eight characteristic features, five of which have been proposed to be required for definitive diagnosis of Nakajo–Nishimura syndrome, only four (autosomal recessive inheritance, haunting nodular erythema, repetitive spiking fever, and partial lipomuscular atrophy) were present and one (hepatosplenomegaly) was absent in the Bengalese case, whereas the remaining three features (pernio-like rash; long, clubbed fingers and basal ganglia calcification) were not reported and the differential diagnosis was prevented. 1, 3 Seizures, which have been specifically observed in JMP syndrome, were not reported, either. 1, 4 In 2010, the Spanish dermatologist Torrelo and colleagues reported on four juvenile patients who presented with earlyonset recurrent fevers, annular violaceous plaques, persistent violaceous eyelid swelling, low body mass and reduced stature, lipodystrophy, hepatomegaly, chronic anaemia, elevated acutephase reactants and raised liver enzymes. 2 Furthermore, there was a characteristic histological feature of lesional skin with infiltrates of atypical mononuclear cells of a myeloid lineage and mature neutrophils. Although these clinical and histological features resemble those of Nakajo–Nishimura syndrome, they could not find any similar cases in the literature and designated this disease as a novel CANDLE syndrome. To our surprise, in the same year, the first PSMB8 mutation (T75M) was identified in another disease–JMP syndrome–which looked similar to but was distinguishable from Nakajo–Nishimura syndrome with the hierarchical cluster analysis of their symptoms. 4, 5 In Japan, there has been a distinct long history of the disease showing the characteristics of both CANDLE and JMP syndromes. The Japanese dermatologist Nakajo first described three familial patients as ‘secondary hypertrophic osteoperiostosis with pernio’in 1939, and Nishimura et al. applied this disease to another three familial cases and suggested its inheritance in 1950. This resulted in the proposal in 1985 of a new entity,‘a syndrome with nodular erythema, elongated and thickened fingers, and emaciation’, according to a review of eleven cases including those reported by Nakajo and Nishimura. 6 Therefore, upon reporting the identification of the distinct PSMB8 mutation (G201V) for these Japanese cases in 2011, the designation ‘Nakajo–Nishimura syndrome’was newly selected for this disease, which was derived from the old registration ORPHA2615 with a description ‘amyotrophy fat tissue anomaly’, in recognition of the pioneers …
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DOI：
--
发表时间：
2013
期刊：
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影响因子：
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作者：
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DOI：
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发表时间：
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期刊：
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影响因子：
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