Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a <i>LAMA3</i> mutation

Reimer, Antonia; Schwieger‐Briel, Agnes; He, Yinghong; Leppert, Juna; Schauer, Franziska; Kiritsi, Dimitra; Schneider, Holm; Ott, Hagen; Bruckner‐Tuderman, Leena; Has, Cristina

doi:10.1111/bjd.16088

Cited by 8 publications

(7 citation statements)

References 7 publications

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“…Height development in RDEB is impaired later, confirming findings from a smaller cohort 25. In JEB, where mucosa is less affected,26 wasting and stunting are less common, but those children who died were particularly light,27 underlining the predictive value of anthropometric measures and the need for close follow‐up. Weight predicted EB growth patterns more specifically than did BMI, but the WHO weight reference used for comparison is given only up to the age of 10 years.…”

Section: Discussionsupporting

confidence: 70%

Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study*

et al. 2019

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A study into growth and anaemia in children with epidermolysis bullosa Summary Severe subtypes of epidermolysis bullosa (EB) are devastating conditions that cause extremely fragile skin and mucosal membranes and lots of wounds. So far, no cure for EB exists. About 5,000 people in the U.K. and 500,000 people worldwide suffer from different EB types.Apart from skin problems, children with EB often have trouble gaining weight, and they develop anaemia (deficiency of iron). As wound healing works best when the body is strong, researchers needed to see how exactly children with EB grow and what factors may stop them from growing properly. This is a summary of the study: Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study This summary relates to https://doi.

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Section: Discussionsupporting

confidence: 70%

Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study*

et al. 2019

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“…In addition to their chronic wounds, the children had microcytic anaemia, a common feature of generalized JEB associated with chronic wounds and inflammation (3). Anaemia in JEB may negatively affect wound healing and vice versa.…”

Section: Discussionmentioning

confidence: 99%

“…Junctional epidermolysis bullosa (JEB) is a hereditary blistering disease caused by reduced dermal-epidermal adhesion due to deficiencies in laminin 332, collagen XVII or integrin a6b4 (1). In JEB caused by laminin 332 deficiency, chronic wounds appearing in infancy can be extremely resistant to therapy, and may determine a severe course (2) and lethal outcome (3). We report here a successful multidisciplinary approach used to treat severe chronic hypergranulating facial wounds and scarring in 2 siblings with JEB generalized-intermediate due to a LAMB3 splice site mutation.…”

mentioning

confidence: 99%

Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa

Reimer

Laszig²,

Pfeiffer³

et al. 2018

Acta Derm Venerol

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“…The LAMA2 gene encodes the laminin alpha 2 chain, and mutations in this gene are thought to be responsible for merosin-deficient congenital muscular dystrophy [29]. LAMA3-related diseases include laryngeal cartilage skin syndrome and epidermolysis bullosa [30,31], LAMA4-related diseases include cardiomyopathy [32], while LAMA5-related diseases include peripheral retinal degeneration and nephrotic syndrome [33,34]. Several studies have shown that LAMA4 is closely related to adipogenesis.…”

Section: Discussionmentioning

confidence: 99%

LAMA2 regulates the fate commitment of mesenchymal stem cells via hedgehog signaling

Zhu¹,

Zhang²,

Gu³

et al. 2020

Stem Cell Res Ther

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Background: Bone defects are a common clinical condition that has gained an increasing amount of attention in recent years. Causes of bone defect include tumors, inflammation, and fractures. Bone tissue engineering is a novel treatment of bone defect, and human mesenchymal stem cells (hMSCs) are the ideal seed cells for bone tissue engineering due to their multi-lineage differentiation potential and immunogenicity. The laminin α2 (LAMA2) gene encodes the α2 subunit of laminins. Mutations in this gene have been reported to cause muscular dystrophy, but thus far no studies have elucidated the role of LAMA2 in the fate choices of MSCs. Here, we aimed to investigate the critical role of LAMA2 in the osteogenesis and adipogenesis of mesenchymal stem cells (MSCs). Methods: We investigated LAMA2 function in osteogenic and adipogenic differentiation of MSCs in vitro and in vivo through loss-and gain-of-function experiments. In addition, molecular mechanism was clarified by Western blot and siRNA. Results: Our results demonstrated that LAMA2 was a critical regulator for fate commitment of MSCs. Both in vitro and in vivo studies indicate that LAMA2 inhibits osteogenesis and promotes adipogenesis. Mechanistically, we found that LAMA2 regulated osteogenesis and adipogenesis of MSCs by modulating the hedgehog signaling pathway. Conclusions: The present work confirms that LAMA2 is a new molecular target for MSC-based bone regeneration.

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Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation

Cited by 8 publications

References 7 publications

Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study*

Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study*

Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa

LAMA2 regulates the fate commitment of mesenchymal stem cells via hedgehog signaling

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