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唐氏综合征的表型和皮肤表现。

Phenotypic and dermatological manifestations in Down Syndrome.

作者信息

Sureshbabu Rengasamy, Kumari Rashmi, Ranugha Subramaniam, Sathyamoorthy Ramanathan, Udayashankar Carounanidy, Oudeacoumar Paquirissamy

机构信息

Aarupadai Veedu Medical College and Hospital, Vinayaka Missions University, Pondicherry, India.

出版信息

Dermatol Online J. 2011 Feb 15;17(2):3.

PMID:21382286
Abstract

Down syndrome (DS) is associated with various uncommon dermatological disorders and increased frequency of some common dermatoses. This study was conducted over a 2-year period to evaluate the frequency of phenotypic and dermatologic manifestations in patients with Down syndrome in south India. The most common phenotypic manifestations that characterize DS include the epicanthic fold (93.7%), brachicephaly (90.6%), flat nasal bridge (84.2%), upward angle of eyes (83.2%), wide gap between first and second toe (81.1%), clinodactyly (77.9%), small nose (74.7%), short broad neck (72.6%), single palmar crease (61.1%), increased nuchal skin fold (61.1%), and fissured tongue (52.6%). The most common dermatological manifestation seen in patients with DS were lichenification, xerosis, dental anomaly, fine, sparse hair, and delayed dentition. Alopecia areata was seen in 9.4 percent of patients and tended to be severe. Infections were relatively less common in our study. Our study has highlighted many phenotypic features and dermatoses, which may help provide better care for patients and counseling to the families.

摘要

唐氏综合征(DS)与多种罕见的皮肤病以及某些常见皮肤病的发病率增加有关。本研究历时2年,旨在评估印度南部唐氏综合征患者的表型和皮肤表现的发生率。唐氏综合征的最常见表型表现包括内眦赘皮(93.7%)、短头畸形(90.6%)、鼻梁扁平(84.2%)、眼裂向上(83.2%)、第一和第二趾间间隙增宽(81.1%)、小指尺侧弯曲(77.9%)、小鼻子(74.7%)、短而宽的颈部(72.6%)、单一掌纹(61.1%)、颈部皮肤褶皱增厚(61.1%)以及沟状舌(52.6%)。唐氏综合征患者最常见的皮肤表现为苔藓化、皮肤干燥、牙齿异常、毛发纤细稀疏以及出牙延迟。斑秃在9.4%的患者中出现,且往往较为严重。在我们的研究中,感染相对较少见。我们的研究突出了许多表型特征和皮肤病,这可能有助于为患者提供更好的护理,并为其家庭提供咨询服务。

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