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毛囊性鱼鳞病伴脱发和畏光综合征患者的睑板腺功能障碍

Meibomian gland dysfunction in a case of ichthyosis follicularis with alopecia and photophobia syndrome.

作者信息

Fatima Tarannum, Mathur Umang, Acharya Manisha

机构信息

Department of Cornea, Dr Shroff Charity Eye Hospital, Daryaganj, New Delhi, India.

出版信息

Indian J Ophthalmol. 2014 Mar;62(3):365-7. doi: 10.4103/0301-4738.116486.

DOI:10.4103/0301-4738.116486
PMID:24008802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4061687/
Abstract

We are reporting an interesting case of ichthyosis follicularis with alopecia and photophobia syndrome in a daughter and father from the Indian subcontinent associated with Meibomian gland dysfunction. A three-year-old female child presented with pain, redness and severe photophobia in both eyes since one month. Cutaneous examination revealed ichthyosis, absence of hair all over the body including eyebrows, scalp and angular cheilosis. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in right eye and corneal epithelial defect in the left eye. Other systemic features were prominent high forehead and large ears. Her father had similar symptoms. Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present.

摘要

我们报告了一例来自印度次大陆的父女患有毛囊性鱼鳞病伴脱发和畏光综合征,并伴有睑板腺功能障碍。一名三岁女童自一个月前起双眼出现疼痛、发红和严重畏光症状。皮肤检查发现鱼鳞病,全身包括眉毛、头皮均无毛发,并有口角炎。眼部检查发现双侧严重睑板腺炎,右眼有多处浅层点状角膜炎,左眼有角膜上皮缺损。其他全身特征为突出的高额和大耳。她的父亲有类似症状。在对睑板腺功能障碍进行充分治疗后,她的症状有所改善。她目前无症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/adb7f8683d73/IJO-62-365-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/74fee70add4e/IJO-62-365-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/c82bd84c42a4/IJO-62-365-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/8cf04698102d/IJO-62-365-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/4dd803b046cd/IJO-62-365-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/048c63637455/IJO-62-365-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/adb7f8683d73/IJO-62-365-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/74fee70add4e/IJO-62-365-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/c82bd84c42a4/IJO-62-365-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/8cf04698102d/IJO-62-365-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/4dd803b046cd/IJO-62-365-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/048c63637455/IJO-62-365-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f4ad/4061687/adb7f8683d73/IJO-62-365-g006.jpg

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本文引用的文献

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Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly.毛囊性鱼鳞病、脱发和畏光综合征:一例报告及对皮脂腺异常的病理学见解
Am J Dermatopathol. 2011 Jun;33(4):403-6. doi: 10.1097/DAD.0b013e3181e8b562.
2
Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients.两名无血缘关系女性患者的毛囊性鱼鳞病伴毛发缺失和畏光(IFAP)综合征
J Am Acad Dermatol. 2002 May;46(5 Suppl):S156-8. doi: 10.1067/mjd.2002.112930.
3
Ichthyosis follicularis with alopecia and photophobia in a mother and daughter.
母女患毛囊性鱼鳞病伴脱发及畏光症。
Br J Dermatol. 2000 Jan;142(1):157-62. doi: 10.1046/j.1365-2133.2000.03260.x.
4
Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.毛囊性鱼鳞病、毛发缺失和畏光综合征的眼部表现
Arch Ophthalmol. 1999 May;117(5):681-4. doi: 10.1001/archopht.117.5.681.
5
Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.患有皮肤毛发综合征及毛囊性鱼鳞病-脱发-畏光(IFAP)综合征表现的儿童。
Am J Med Genet. 1992 Sep 15;44(2):233-6. doi: 10.1002/ajmg.1320440222.