Garcia-Moreno Hector, Fassihi Hiva, Sarkany Robert P E, Phukan Julie, Warner Thomas, Lehmann Alan R, Giunti Paola
Ataxia Centre Department of Molecular Neuroscience University College London Institute of Neurology London WC1N 3BG United Kingdom.
National Xeroderma Pigmentosum Service St John's Institute of Dermatology Guy's and St Thomas' Foundation Trust London SE1 7EH United Kingdom.
Ann Clin Transl Neurol. 2017 Dec 4;5(1):102-108. doi: 10.1002/acn3.511. eCollection 2018 Jan.
Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.
着色性干皮病的特征在于皮肤、眼科和神经学方面的表现。尽管它在儿童期较为典型，但晚期表现可能类似不同的神经退行性疾病。我们报告了两个表现为亨廷顿舞蹈病样综合征的家系。首例病例（G组）表现出神经精神症状、认知衰退和舞蹈症。典型的雀斑样痣直到神经疾病开始后才被发现。第二例病例（B组）在侵袭性眼黑色素瘤后出现成人起病的舞蹈症和神经精神症状。着色性干皮病可表现为亨廷顿舞蹈病样综合征。对于亨廷顿舞蹈病样表型基因检测呈阴性的舞蹈症患者，必须调查其典型的皮肤病学和肿瘤学特征。
