Pathological characterization of pachydermia in pachydermoperiostosis.
Pathological characterization of pachydermia in pachydermoperiostosis.
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DOI：
10.1111/1346-8138.12869
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发表时间：
2015-07
期刊：
影响因子：
--
通讯作者：
Ishiko A
中科院分区：
文献类型：
--
作者：
Tanese K;Niizeki H;Seki A;Otsuka A;Kabashima K;Kosaki K;Kuwahara M;Miyakawa S;Miyasaka M;Matsuoka K;Okuyama T;Shiohama A;Sasaki T;Kudoh J;Amagai M;Ishiko A
骨膜肥厚症是一种罕见的遗传性疾病，表现为皮肤厚厚和角回状皮肤的皮肤表现。厚皮症的组织学表现通常包括真皮水肿、粘蛋白沉积、弹性纤维变性、真皮纤维化和附件增生。然而，这些发现的严重程度因临床报告而异，并且迄今为止尚未进行系统的多病例临床病理学相关分析。在本研究中，我们回顾了从六名厚皮骨膜增生症患者的厚皮症中获得的皮肤活检标本。半定量评估特征性组织学特征的严重程度，并将其与厚皮症的分级相关联。所有病例均出现真皮水肿、粘蛋白沉积和弹力纤维变性。严重厚皮症患者皮脂腺增生、纤维化。这些结果表明，粘蛋白沉积、真皮水肿和弹性纤维变性的三联征是在极早期的厚皮症中发现的，并且可以被认为是诊断结果。为了确保早期诊断厚皮症，当患者患有 1 级厚皮症时，应进行活检以确定是否存在这种组织学三联征。
Pachydermoperiostosis is a rare hereditary disease, which presents with the cutaneous manifestations of pachydermia and cutis verticis gyrata. Histological findings in pachydermia frequently include dermal edema, mucin deposition, elastic fiber degeneration, dermal fibrosis and adnexal hyperplasia. However, the severity of these findings varies between clinical reports, and a systematic multiple‐case clinicopathological correlative analysis has not been performed to date. In the present study, we reviewed the skin biopsy specimens obtained from the pachydermia of six pachydermoperiostosis patients. The severity of the characteristic histological features was semiquantitatively evaluated and correlated with the grade of pachydermia. Dermal edema, mucin deposition and elastic fiber degeneration were observed in all cases. Patients with severe pachydermia had sebaceous gland hyperplasia and fibrosis. These results suggest that the triad of mucin deposition, dermal edema and elastic fiber degeneration are found from very early stage pachydermia, and could be considered diagnostic findings. To ensure an earlier diagnosis of pachydermoperiostosis, a biopsy should be taken when a patient has grade 1 pachydermia to determine the presence of this histological triad.
影响因子：
4.6
作者：
Sasaki, Takashi;Niizeki, Hironori;Kudoh, Jun
通讯作者：
Kudoh, Jun
外显子组测序确定 SLCO2A1 突变是原发性肥厚性骨关节病的原因
影响因子：
9.8
作者：
Zhang, Zhenlin;Xia, Weibo;Liu, Yujuan
通讯作者：
Liu, Yujuan