Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report
Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report
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DOI：
10.1111/1346-8138.13308
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发表时间：
2016-08
期刊：
影响因子：
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通讯作者：
M. Tsutsumi;M. Kono;M. Akiyama;N. Katoh;N. Nakai
中科院分区：
文献类型：
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作者：
M. Tsutsumi;M. Kono;M. Akiyama;N. Katoh;N. Nakai
No.603285）和与对侧苍白球海绵状瘤相关的偏侧舞蹈症。本研究按照赫尔辛基宣言和国家个人数据保护法进行;患者在开始任何研究前签署知情同意书。我们注意到一位33岁的男性，最近发生了右半侧舞蹈症。神经系统疾病家族史阴性。体格检查显示双腿和左下眼睑有多处皮肤病变（图1a、B）。它们呈丘疹状，暗红紫色，有弹性，有些有明显的浅表角化过度，周围有不规则形状的出血晕。经活检确诊为肝细胞癌肝硬化。组织学检查显示表皮厚度和真皮内血管扩张、充血，表皮棘层和角化过度（图1c）。脑磁共振成像（MRI）显示多发性CCM，特别是左侧苍白球海绵状血管瘤（图1d）。对这三个致病基因进行了直接测序，在CCM 3/PDCD 10基因中发现了一个杂合无义突变（c.103C>T; p.Arg35X），以前在少数CCM家族中报道过。他的父母拒绝接受脑部核磁共振成像和分子基因检测。然而，最近对患者母亲进行的临床检查显示，皮肤病变与患者呈现的病变相似，表明该疾病存在垂直传播。所有先前发表的HCCVM患者均携带CCM 1/KRIT 1突变，表明基因型/表型之间存在强相关性。我们的病例表明，CCM 3/PDCD 10基因突变也可能与HCCVM相关，即使更罕见，并且HCCVM的存在不一定意味着CCM 1/KRIT 1突变。外侧偏侧舞蹈症是一种少见的血管孤立性苍白球病变。我们的病例提示苍白球定位的海绵状血管瘤如果引起出血，也可能是引起偏侧舞蹈症的罕见原因。
no. 603285), and hemichorea associated with a contralateral pallidal cavernoma. The study was carried out in accordance with the Declaration of Helsinki and the national laws for the protection of personal data; the patient signed an informed consent before starting any investigation. A 33-year-old man with recent-onset right hemichorea came to our attention. Family history was negative for neurological diseases. His physical examination showed multiple skin lesions on both legs and on the left lower eyelid (Fig. 1a,b). They were papular, dark red-purple in color, of elastic consistency, some with marked superficial hyperkeratosis, surrounded by an irregularly shaped hemorrhagic halo. Diagnosis of HCCVM was confirmed by biopsy. Histopathological examination revealed dilated, blood-filled vessels in the epidermal thickness and dermis, with overlying epidermal acanthosis and hyperkeratosis (Fig. 1c). Brain magnetic resonance imaging (MRI) showed multiple CCM and in particular a left pallidal cavernoma (Fig. 1d). Direct sequencing of the three causative genes was performed and a heterozygous nonsense mutation (c.103C>T; p.Arg35X), previously reported in few CCM families, was revealed in the CCM3/PDCD10 gene (Fig. 1e). His parents refused brain MRI and molecular genetic testing. However, a recent clinical examination of the patient’s mother revealed skin lesions similar to those presented by the patient, suggesting vertical transmission of the disease. All previously published patients with HCCVM carried CCM1/KRIT1 mutations, suggesting a strong genotype/phenotype correlation. Our case shows that mutations in the CCM3/PDCD10 gene also could be associated with HCCVM, even if more rarely, and that the presence of HCCVM should not necessarily suggest a CCM1/KRIT1 mutation. Contralateral hemichorea has been already reported as uncommon presentation of a vascular isolated pallidal lesion. Our case suggests that also a cavernoma with pallidal localization may be an unusual cause of hemichorea if it gives rise to bleeding.