Aquagenic palmoplantar keratoderma associated with acrokeratoelastoidosis

Poiraud, C.; Vourc’h-Jourdain, M.; Cassagnau, E.; Barbarot, S.

doi:10.1111/ced.12316

Cited by 8 publications

(3 citation statements)

References 5 publications

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“…A major challenge for future research in the field is to dissect how the many different signalling pathways regulated by PPARc activation can be targeted more selectively, and differentially promoted or inhibited, depending on the desired clinical outcome. This can instructively be explored in available human cell culture, skin and organ culture models (58,79,104,117,121,122), as well as in appropriate animal models for different specific modulators (123)(124)(125). To shorten the time frame from 'bench to bedside', clinical studies on human material will have to be performed in parallel to the laboratory work.…”

Section: Concluding Remarks and Future Perspectivesmentioning

confidence: 99%

The role of PPARγ‐mediated signalling in skin biology and pathology: new targets and opportunities for clinical dermatology

Ramot

Mastrofrancesco

Camera

et al. 2015

Experimental Dermatology

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Yuval Ramot and Arianna Mastrofrancesco contributed equally to this work.Abstract: Peroxisome proliferator-activated receptors (PPARs) are ligand-activated transcription factors that modulate the expression of multiple different genes involved in the regulation of lipid, glucose and amino acid metabolism. PPARs and cognate ligands also regulate important cellular functions, including cell proliferation and differentiation, as well as inflammatory responses. This includes a role in mediating skin and pilosebaceous unit homoeostasis: PPARs appear to be essential for maintaining skin barrier permeability, inhibit keratinocyte cell growth, promote keratinocyte terminal differentiation and regulate skin inflammation. They also may have protective effects on human hair follicle (HFs) epithelial stem cells, while defects in PPARc-mediated signalling may promote the death of these stem cells and thus facilitate the development of cicatricial alopecia (lichen planopilaris). Overall, however, selected PPARc modulators appear to act as hair growth inhibitors that reduce the proliferation and promote apoptosis of hair matrix keratinocytes. The fact that commonly prescribed PPARc-modulatory drugs of the thiazolidine-2,4-dione class can exhibit a battery of adverse cutaneous effects underscores the importance of distinguishing beneficial from clinically undesired cutaneous activities of PPARc ligands and to better understand on the molecular level how PPARc-regulated cutaneous lipid metabolism and PPARcmediated signalling impact on human skin physiology and pathology. Surely, the therapeutic potential that endogenous and exogenous PPARc modulators may possess in selected skin diseases, ranging from chronic inflammatory hyperproliferative dermatoses like psoriasis and atopic dermatitis, via scarring alopecia and acne can only be harnessed if the complexities of PPARc signalling in human skin and its appendages are systematically dissected.

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Section: Concluding Remarks and Future Perspectivesmentioning

confidence: 99%

The role of PPARγ‐mediated signalling in skin biology and pathology: new targets and opportunities for clinical dermatology

Ramot

Mastrofrancesco

Camera

et al. 2015

Experimental Dermatology

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“…Although several studies have linked APK with cystic fibrosis transmembrane conductance regulator ( CFTR ) dysfunction [ 35 , 36 ], we did not identify any CFTR gene mutations in our study. Interestingly, a previous report described a patient with concurrent AKE and APK appearing, yet without CFTR gene mutations [ 37 ]. These findings further suggest that AKE pathogenesis may differ from APK, and the thick hyperkeratosis induced by AKE potentially altering ion or protein channels of the eccrine ducts.…”

Section: Discussionmentioning

confidence: 99%

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis

Zhu,

Bai,

Yan

et al. 2024

Eur J Hum Genet

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Acrokeratoelastoidosis (AKE) is a rare autosomal dominant hereditary skin disease characterized by small, round-oval, flat-topped keratotic papules on the palms, soles and dorsal aspect of hands or feet. The causative gene for AKE remains unidentified. This study aims to identify the causative gene of AKE and explore the underlying biological mechanisms. A large, three-generation Chinese family exhibiting classic AKE symptoms was identified. A genome-wide linkage analysis and whole-exome sequencing were employed to determine the causative gene. shRNA knockdown in human skin fibroblasts and CRISPR/Cas9 knockout in HEK293T cells were utilized to assess gene functions in the progression of elastic fiber biosynthesis. The linkage analysis identified a susceptibility region between rs7296765 to rs10784618 on chromosome 12. Whole-exome sequencing confirmed a splicing mutation of 1101 + 1 G > A in the CCDC91 gene, resulting in exon 11 skipping and a subsequent 59-amino-acid-residue loss (residues L309-Q367del). Further functional analysis revealed distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-HSF cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates. There are no significant changes in Fibrillin-1 microfibril assembly and lysyl oxidase activity. The findings strongly suggest that the protein product of the CCDC91 gene plays a crucial role in elastin transport. This discovery enhances our understanding of CCDC91’s function and broadens the known pathogenic mechanisms of AKE.

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“…Fragmented elastic fibres resembling rooster crests can be observed on scanning EM, while transmission EM shows decreased thickness and fragmentation of the elastic fibres, surface indentations, irregular black spots in the fibre core and normal collagen bundles. In single case reports, AKE was associated with nail dystrophy [11] or aquagenic palmoplantar keratoderma [9]. The pathogenesis of the disease remains unknown.…”

mentioning

confidence: 99%

Acrokeratoelastoidosis as an example of marginal papular acrokeratoderma with prominent elastorrhexis

Żychowska

Batycka-Baran

Baran

2019

pdia

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Aquagenic palmoplantar keratoderma associated with acrokeratoelastoidosis

Cited by 8 publications

References 5 publications

The role of PPARγ‐mediated signalling in skin biology and pathology: new targets and opportunities for clinical dermatology

The role of PPARγ‐mediated signalling in skin biology and pathology: new targets and opportunities for clinical dermatology

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis

Acrokeratoelastoidosis as an example of marginal papular acrokeratoderma with prominent elastorrhexis

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