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线状回旋性鱼鳞病伴竹节发:诊断与管理中的挑战

Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management.

作者信息

Dev Tanvi, Raman Kumar Marwaha, Sethuraman Gomathy

机构信息

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

Senior Consultant Endocrinology and Scientific Advisor (Projects), International Life Sciences Institute (ILSI), New Delhi, India.

出版信息

BMJ Case Rep. 2017 May 28;2017:bcr-2017-220227. doi: 10.1136/bcr-2017-220227.

DOI:10.1136/bcr-2017-220227
PMID:28554884
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5614114/
Abstract

A 15-year-old boy had persistent and refractory erythroderma since early childhood. His parents noticed polycyclic skin lesions and hair fragility around the age of 5 years. He was treated by a local untrained practitioner for more than 3 years without any significant improvement, and he developed weight gain, thinning of skin, muscle weakness and growth retardation. He was evaluated in 2015 and found to have iatrogenic Cushing's disease with severe skeletal complications and pituitary-adrenal-gonadal suppression, which persisted despite gradual withdrawal of steroids.

摘要

一名15岁男孩自幼年起就患有持续性难治性红皮病。他的父母在他5岁左右时注意到他有环状皮肤病变和头发脆弱的问题。他接受了当地一名未经培训的医生的治疗,超过3年但没有任何明显改善,并且他出现了体重增加、皮肤变薄、肌肉无力和生长发育迟缓。2015年对他进行评估时,发现他患有医源性库欣病,伴有严重的骨骼并发症以及垂体 - 肾上腺 - 性腺抑制,尽管逐渐停用了类固醇,但这些症状仍持续存在。

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引用本文的文献

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Netherton syndrome associated to otomycosis. Netherton 综合征合并外耳真菌病。
BMJ Case Rep. 2021 Jul 20;14(7):e243260. doi: 10.1136/bcr-2021-243260.

本文引用的文献

1
Inherited ichthyosis: Syndromic forms.遗传性鱼鳞病:综合征型。
J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284.
2
Recent advances in congenital ichthyoses.先天性鱼鳞病的最新进展。
Curr Opin Pediatr. 2015 Aug;27(4):473-9. doi: 10.1097/MOP.0000000000000239.
3
Neonatal erythroderma.新生儿红皮病。
Curr Opin Pediatr. 2010 Aug;22(4):438-44. doi: 10.1097/MOP.0b013e32833bc396.
4
Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings.
Int J Dermatol. 2007 Mar;46(3):290-4. doi: 10.1111/j.1365-4632.2006.02956.x.
5
Netherton syndrome: a case report and review of the literature.Netherton综合征:一例病例报告及文献综述
Int J Dermatol. 2006 Jun;45(6):693-7. doi: 10.1111/j.1365-4632.2005.02637.x.