"Nagashima-Type" keratosis as a novel entity in the palmoplantar keratoderma category
"Nagashima-Type" keratosis as a novel entity in the palmoplantar keratoderma category
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DOI：
10.1001/archderm.144.3.375
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发表时间：
2008-03-01
影响因子：
--
通讯作者：
Tokura, Yoshiki
中科院分区：
文献类型：
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作者：
Kabashima, Kenji;Sakabe, Jun-ichi;Tokura, Yoshiki
背景：“nagashima型”角化病以侵袭性和非进行性掌跖角化病（PPK）为特征，具有常染色体隐性性状。由于其临床表现与Meleda型相似，但比mal de Meleda轻，最初被描述为Meleda型PPK的轻度形式。从那时起，在日语文献中报道了大约20例。然而，据我们所知，日本以外的国家没有报告病例，可能是因为长岛型PPK未被视为一种独特的实体。在英语文献中描述这种疾病的特征是必要的。观察：一名17岁的男孩表现为手掌和脚底的侵入性、多汗、红斑和角化过度病变，这些病变在他还是婴儿时就出现了，并一直持续到2至3年前。他的家族史显示没有类似的疾病。表现为典型的长岛型PPK。我们进行了一项遗传学研究，以寻找SLURP1基因的突变，该基因负责mal de Meleda，但在SLURP1的外显子或内含子位点未检测到突变。结论：本遗传研究结果表明，nagashima型角化病是一种新的PPK实体，不同于mal de Meleda。
Background: "Nagashima-type" keratosis is characterized by transgressive and nonprogressive palmoplantar keratoderma (PPK) with an autosomal recessive trait. Because its clinical manifestations are similar to but milder than those of mal de Meleda, it was originally described as a mild form of Meleda-type PPK. Since then, about 20 cases have been reported in the Japanese-language literature. However, to our knowledge, no cases have been reported from countries other than Japan, presumably because Nagashima-type PPK was not recognized as a distinct entity. it is essential to describe the characteristics of this disease in the English-language literature.Observations: A 17-year-old boy presented with transgressive, hyperhidrotic, erythematous, and hyperkeratotic lesions on his palms and soles that had developed when he was an infant and had progressed until 2 to 3 years earlier. His family history revealed no similar disorders. The symptoms and clinical course were typical for Nagashima-type PPK. A genetic study was performed to search for a mutation in the SLURP1 gene, which is responsible for mal de Meleda, but no mutations were detected in the exon or intron sites of SLURP1.Conclusion: The results of the present genetic study suggest that Nagashima-type keratosis is a novel entity of PPK and is distinct from mal de Meleda.