Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome

被引：17

作者：

Figueira, Edwin C.

Crotty, Anne

Challinor, Christopher J.

Coroneo, Minas T.

Murrell, Dedee F. ^{[1
]}

机构：

[1] Univ New S Wales, St George Hosp, Dept Dermatol, Kogarah, NSW 2217, Australia

[2] Prince Wales Hosp, Dept Ophthalmol, Sydney, NSW, Australia

[3] Hunter New England Hlth Pathol, Sydney, NSW, Australia

[4] Univ New S Wales, Sydney, NSW, Australia

[5] Sydney Childrens Hosp, Multidisciplinary EB Clin, Sydney, NSW, Australia

[6] John Hunter Hosp, Dept Ophthalmol, Newcastle, NSW, Australia

来源：

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | 2007年 / 35卷 / 02期

关键词：

epidermolysis bullosa; LAMA3 and LAMA3a mutations; laryngo-onycho-cutaneous syndrome; larynx;

D O I：

10.1111/j.1442-9071.2006.01436.x

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Eye and adnexal involvement in epidermolysis bullosa can range from symptoms of mild irritation resulting from conjunctival involvement to severe cicatrization of the ocular surface and adnexa. We describe a unique case of granulation tissue in the eyelid margin and conjunctiva in a patient with junctional epidermolysis bullosa. The eyelid granulation tissue resembled granulomas that seen in laryngo-onycho-cutaneous syndrome, which is caused by a mutation in an isoform of the LAMA3 gene, LAMA3a. On investigation, our patient had a combination of a unique mutation in LAMA3 and the mutation I17N in LAMA3a, providing further evidence that laryngo-onycho-cutaneous syndrome is a variant of junctional EB.

引用

页码：163 / 166

页数：4

共 10 条

[1] Characterization of the nail matrix basement membrane zone: An immunohistochemical study of normal nails and of the nails in Herlitz junctional epidermolysis bullosa [J].