Isolated primary cardiac amyloidosis associated with porokeratosis of Mibelli

Protopsaltis, John; Katsantonis, John; Kokkoris, Stelios; Agapitos, Emmanuel; Lavranos, Giagkos; Korantzopoulos, Panagiotis; Giannoulis, Gregory

doi:10.1016/j.ijcard.2006.12.081

Cited by 2 publications

(2 citation statements)

References 12 publications

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“…Of note, irregular vessels are observed in PK lesions through dermoscopic examination [ 28 – 30 ], which are usually neglected by naked eyes. In addition, one case of primary cardiac amyloidosis associated with PK was reported in the literature [ 31 ] . Based on these observations, we inferred that abnormal angiogenesis might be the primary effect of mvda deficiency.…”

Section: Discussionmentioning

confidence: 99%

Mvda is required for zebrafish early development

Wong

Huang

et al. 2021

Biol Res

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Background The MVD gene mutations are identified in porokeratosis, which is considered a skin-specific autoinflammatory keratinization disease. However, the biological function of MVD gene remains largely unknown. Therefore, we analyzed the function of mvda gene, orthologous to the human MVD gene, in developing zebrafish. Methods Morpholino antisense oligonucleotide technique was used to generate mvda loss-of-function phenotypes. Knockdown of mvda was confirmed by RT-PCR and Sanger sequencing. Scanning and transmission electron microscopy were performed to analyze the morphology of the epidermis. Angiogenesis study was presented using the Tg(fli1a:EGFP)y1 transgenic strain. In addition, acridine orange staining was used to examine the apoptotic cells in vivo. Results As expected, the mvda morphants showed abnormal morphology of the epidermis. Moreover, we observed ectopic sprouts in trunk angiogenesis and impaired formation of the caudal vein plexus in the mvda-deficient zebrafish. Besides, increased apoptosis was found throughout the tail, heart, and eyes in mvda zebrafish morphants. Conclusions These findings indicated the essential role of mvda in the early development of zebrafish. This was the first in vivo knockdown study of the zebrafish mvda gene, which might offer insight into the biological function of the human MVD gene.

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Section: Discussionmentioning

confidence: 99%

Mvda is required for zebrafish early development

Wong

Huang

et al. 2021

Biol Res

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“…The mechanism of this phenomenon is unclear; however, abnormal keratinocyte proliferation in porokeratosis is suspected to derive from the loss of immunosurveillance. One case of primary cardiac amyloidosis associated with PM resulting in congestive heart failure has also been described, providing a possible common pathophysiological link to disturbed immune balance [315]. PM was reported in the context of Parkinson's disease [316], diabetes mellitus [307], viral hepatitis B [307] and C [317], vitiligo [317] and end-stage renal disease requiring hemodialysis [307].…”

Section: Clinical Presentationmentioning

confidence: 99%

Porokeratoses—A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants

Pietkiewicz,

Korecka,

Salwowska

et al. 2023

Metabolites

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Porokeratosis is a heterogeneous group of keratinising disorders characterised by the presence of particular microscopic structural changes, namely the presence of the cornoid lamella. This structure develops as a consequence of a defective isoprenoid pathway, critical for cholesterol synthesis. Commonly recognised variants include disseminated superficial actinic porokeratosis, disseminated superficial porokeratosis, porokeratosis of Mibelli, palmoplantar porokeratosis (including porokeratosis palmaris et plantaris disseminata and punctate porokeratosis), linear porokeratosis, verrucous porokeratosis (also known as genitogluteal porokeratosis), follicular porokeratosis and porokeratoma. Apart from the clinical presentation and epidemiology of each variant listed, this review aims at providing up-to-date information on the precise genetic background, introduces imaging methods facilitating the diagnosis (conventional and ultraviolet-induced fluorescence dermatoscopy, reflectance confocal microscopy and pathology), discusses their oncogenic potential and reviews the literature data on the efficacy of the treatment used, including the drugs directly targeting the isoprenoid–mevalonate pathway.

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Isolated primary cardiac amyloidosis associated with porokeratosis of Mibelli

Cited by 2 publications

References 12 publications

Mvda is required for zebrafish early development

Mvda is required for zebrafish early development

Porokeratoses—A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants

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