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身材矮小伴先天性鱼鳞病。

Short stature with congenital ichthyosis.

作者信息

Lakhani Som J, Lakhani Om J

机构信息

Department of Dermatology, Sumandeep Vidyapeeth, Vadodara, Gujarat, India.

Department of Endocrinology, Sir Ganga Ram Hospital, New Delhi, India.

出版信息

BMJ Case Rep. 2015 Dec 9;2015:bcr2015212610. doi: 10.1136/bcr-2015-212610.

Abstract

PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.

摘要

PIBIDS综合征(光敏性、鱼鳞病、脆发、智力障碍、生育力下降和身材矮小)是毛发硫营养不良的一种变异型。它是常染色体隐性先天性鱼鳞病的一种罕见形式。身材矮小是PIBIDS综合征的一个重要组成部分。我们报告了两例被诊断为PIBIDS综合征的兄弟姐妹的病例。在对身材矮小进行评估时,发现他们严重缺乏维生素D,纠正维生素D缺乏后,患者身高有了显著增长。通过这个病例,我们还想提出,维生素D缺乏可能是PIBIDS综合征中身材矮小的可治疗原因之一。

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Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
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Evidence of a marked 25-hydroxyvitamin D deficiency in patients with congenital ichthyosis.
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