KLHL24: Beyond Skin Fragility

Bolling, Maria C.; Jonkman, Marcel F.

doi:10.1016/j.jid.2018.08.010

Cited by 9 publications

(8 citation statements)

References 11 publications

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“…Although the exact mechanism by which KLHL24 results in skin fragility is unclear, the protein is involved in a ubiquitination and protein degradation pathway 4 . As in our patient, the pathogenic mutations appear to consistently involve the initiation codon of the KLHL24 gene 5 . The same mutation in our patient, c.1A>T, has been reported in one other affected family 2 .…”

Section: Discussionsupporting

confidence: 76%

Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation–associated cardiomyopathy

Grilletta

2019

JAAD Case Reports

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Section: Discussionsupporting

confidence: 76%

Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation–associated cardiomyopathy

Grilletta

2019

JAAD Case Reports

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“…All pathogenic variants identified in patients involve the start codon of the translation. 26 Preliminary findings suggest that this protein would act by a new mechanism in EB, through the deregulation of its autoubiquitination, which would lead to changes in the levels of the intermediate filaments, especially keratin 14, in keratinocytes. 20 , 25 , 38 …”

Section: Epidermolysis Bullosa Simplexmentioning

confidence: 95%

“… 23 , 24 Studies have demonstrated that 85% of patients with pathogenic variants in KLHL24 have some cardiac involvement, evidenced by a high level of biomarkers or dilated cardiomyopathy (40%). 25 , 26 Neurological problems, such as developmental delay, intellectual disability, memory problems, and myopathy were also described in some cases. 26 Future studies will be indispensable for a complete clinical characterization of this new subtype of EBS, designated in the most recent classification of EB as intermediateEB S with cardiomyopathy.…”

Section: Epidermolysis Bullosa Simplexmentioning

confidence: 99%

“… 25 , 26 Neurological problems, such as developmental delay, intellectual disability, memory problems, and myopathy were also described in some cases. 26 Future studies will be indispensable for a complete clinical characterization of this new subtype of EBS, designated in the most recent classification of EB as intermediateEB S with cardiomyopathy. 2 …”

Section: Epidermolysis Bullosa Simplexmentioning

confidence: 99%

“…Since the discovery of the association of the KLHL24 gene with the EBS phenotype, researchers have sought to understand the molecular mechanism involved in its pathogenicity. 20 , 26 , 38 Unlike most EBS-associated proteins, the Kelch-like protein 24 is not a structural protein. All pathogenic variants identified in patients involve the start codon of the translation.…”

Section: Epidermolysis Bullosa Simplexmentioning

confidence: 99%

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Inherited epidermolysis bullosa: update on the clinical and genetic aspects

Mariath

Santin

Schüler‐Faccini

et al. 2020

Anais Brasileiros de Dermatologia

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Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.

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