A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-10-23 DOI:10.1111/pde.15764
Marina Goldoni, Barbara Torres, Maurizio Pettinato, Alessia Gennaro, Tommaso Biagini, Angelo Giuseppe Condorelli, Rosanna Monetta, Tommaso Mazza, Laura Bernardini, Teresa Mattina
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Abstract

Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by fragility of the skin and mucous membranes due to alterations in the dermal epidermal junction. This condition manifests as mechanically induced bullous lesions that heal with hypertrophic granulation tissue and/or atrophic scars. Here, we report two brothers carrying a homozygous LAMB3 missense variant, p.Gly254Asp, which affects the N-terminal end of the laminin-332 (LM332) β3 chain, previously described in another JEB family sharing a common ethnic origin and LAMB3 haplotype with the siblings reported here. Moreover, all affected patients with p.Gly254Asp mutation from both families exhibits a distinct phenotype consisting of a few localized long-standing skin lesions characterized by excessive granulation tissue formation or keloid scars, without new blistering, and associated with amelogenesis imperfecta. Our patients also showed nail dystrophy, expanding the phenotypic spectrum and confirming the peculiar role of the N-terminal end of the β3 chain in regulating the granulation tissue response associated with the wound healing process.

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影响层粘连蛋白-332 β3 链 N 端域的缺义变异导致一种不同形式的交界性表皮松解症,其肉芽组织反应改变,但无新的水疱:第二个家族报告
交界性表皮松解性大疱症(JEB)是一种罕见的遗传性皮肤病,其特点是由于真皮表皮交界处的改变而导致皮肤和粘膜脆弱。该病表现为机械性诱发的大疱性皮损,愈合后出现肥厚性肉芽组织和/或萎缩性疤痕。在此,我们报告了两兄弟携带同型 LAMB3 错义变异 p.Gly254Asp,该变异影响层粘连蛋白-332(LM332)β3 链的 N 端,该变异曾在另一个 JEB 家族中被描述过,该家族与本文报告的兄弟姐妹具有共同的种族来源和 LAMB3 单倍型。此外,这两个家族中所有p.Gly254Asp突变的患者都表现出一种独特的表型,即一些局部的长期性皮肤损伤,其特点是肉芽组织过度形成或瘢痕疙瘩,没有新的水疱,并伴有成骨不全症。我们的患者还表现出指甲营养不良,扩大了表型范围,证实了β3链N端在调节与伤口愈合过程相关的肉芽组织反应中的特殊作用。
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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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