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Indian Dermatology Online Journal 2017
PubMed: 28761862
DOI: 10.4103/idoj.IDOJ_284_16 -
International Journal of Trichology 2022Porokeratosis (PK) is an epidermal disorder of keratinization, caused by a clone expansion of a mutated keratinocyte that generates a thin parakeratotic column: the...
Porokeratosis (PK) is an epidermal disorder of keratinization, caused by a clone expansion of a mutated keratinocyte that generates a thin parakeratotic column: the cornoid lamella (CL). Depending on the clinical presentation, we differentiate up to 6 different types of PK. Most frequent locations for the lesions are limbs and trunk, while scalp is rarely affected. The possible origin of the CL in the epidermal appendages has been proposed (ostia of the eccrine glands and infundibulum of the follicle). The first case of PK limited to the scalp with exclusive involvement of the hair follicles is presented in this manuscript. It helps identify the clinical description and especially the trichoscopy as a diagnostic key in follicular PK and also to elucidate if it is an incidental histological finding or a new different clinical variant of PK.
PubMed: 35300103
DOI: 10.4103/ijt.ijt_86_20 -
Nagoya Journal of Medical Science Feb 2024Whole-exome and whole-genome sequencing have become widespread in approximately the last 15 years, and the predisposing factors and pathomechanisms of inflammatory... (Review)
Review
Whole-exome and whole-genome sequencing have become widespread in approximately the last 15 years, and the predisposing factors and pathomechanisms of inflammatory keratinization diseases, which have been unknown for a long time, have gradually been revealed. Hence, various inflammatory keratinization diseases are recognized to cause innate immunity hyperactivation. Therefore, we have been advocating for the clinical entity, "autoinflammatory keratinization diseases (AiKDs)" since 2017. AiKDs are inflammatory keratinization diseases caused by autoinflammatory-related pathomechanisms in the skin. The aberrant activation of innate immunity and the resultant autoinflammation in the epidermis and the superficial dermis in AiKDs cause hyperkeratosis in the epidermis. Our initially proposed concept of AiKDs included generalized pustular psoriasis and related conditions, pityriasis rubra pilaris type V, and familial keratosis lichenoides chronica. Since then, the number of diseases known to be AiKDs has increased as previously unknown disease-causing factors and pathogenetic mechanisms of inflammatory keratinization diseases have been clarified one by one. To date, porokeratosis, hidradenitis suppurative, keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome, and AiKDs associated with epidermal growth factor receptor (EGFR) deficiency or with hepatitis and autism have been recognized as AiKDs. The concept of AiKDs is considered extremely useful in our precise understanding of the pathogeneses behind inflammatory keratinization diseases and our appropriate treatment method selection. The number of AiKDs is expected to grow with the clarification of the pathomechanisms of further inflammatory keratinization diseases.
Topics: Humans; Keratosis; Skin; Skin Neoplasms; Syndrome
PubMed: 38505726
DOI: 10.18999/nagjms.86.1.1 -
Biochimica Et Biophysica Acta.... Dec 2020Vesicular nucleotide transporter (VNUT) is the last identified member of the SLC17 organic anion transporter family, which plays a central role in vesicular storage in... (Review)
Review
Vesicular nucleotide transporter (VNUT) is the last identified member of the SLC17 organic anion transporter family, which plays a central role in vesicular storage in ATP-secreting cells. The discovery of VNUT demonstrated that, despite having been neglected for a long time, vesicular ATP release represents a major pathway for purinergic chemical transmission, which had been mainly attributed to ATP permeation channels. This article summarizes recent advances in our understanding of the mechanism of VNUT and its physiopathological roles as well as the development of inhibitors. Regulating the activity and/or the expression of VNUT represents a new and promising therapeutic strategy for the treatment of multiple diseases.
Topics: Adenosine Triphosphate; Animals; Circadian Rhythm; Clodronic Acid; Humans; Inflammation; Neurons; Nucleotide Transport Proteins; Pain Perception; Porokeratosis
PubMed: 32652056
DOI: 10.1016/j.bbamem.2020.183408 -
Cureus Feb 2021Background Porokeratosis (PK) is a rare group of keratinization disorders. While the overall prognosis of PK is favorable, malignant transformation of PK to skin cancer...
Background Porokeratosis (PK) is a rare group of keratinization disorders. While the overall prognosis of PK is favorable, malignant transformation of PK to skin cancer has been reported in 6.9% to 11.6% of the cases. Prior estimates of malignant transformation of PK have been based on reviews of published cases, which introduces possible publication bias. We aim to eliminate this potential bias and quantify the characteristics, risk factors, and malignancy potential of PK. Methodology A single-center retrospective chart review of patients with a diagnosis of PK was conducted. Results In this study, 6.4% to 16.4% of histologically confirmed PK lesions demonstrated malignant transformation. A higher proportion of disseminated superficial actinic porokeratosis (DSAP) cases (as high as 29.3%) showed malignant transformation compared to PK of Mibelli (as high as 6.0%). Out of the two cases of linear PK, both demonstrated malignant transformation. Conclusions In summary, PKs are at risk for malignant transformation, and patients with DSAP and linear PK, in particular, should receive more long-term surveillance. Limitations of this study include the inability to control for confounding factors due to the retrospective nature and the small size of our cohort.
PubMed: 33680623
DOI: 10.7759/cureus.13083 -
Indian Dermatology Online Journal 2021
PubMed: 34211921
DOI: 10.4103/idoj.IDOJ_419_20 -
Frontiers in Medicine 2023Porokeratosis, a keratinizing disorder of unknown etiology, exhibits an autosomal dominant inheritance pattern or manifests as an isolated acquired dermatosis. This...
Porokeratosis, a keratinizing disorder of unknown etiology, exhibits an autosomal dominant inheritance pattern or manifests as an isolated acquired dermatosis. This condition can occur at any site on the skin; however, scrotal lesions are extremely rare. Only 18 cases of scrotal lesions were identified through a comprehensive review of the relevant literature. Herein, we present a case of a 19-year-old patient with porokeratosis of the scrotum. Additionally, we provide a summary of the etiologies, clinical manifestations, and histopathology of scrotal porokeratosis, and present differential diagnoses by reviewing the related literature.
PubMed: 38259830
DOI: 10.3389/fmed.2023.1274635 -
International Journal of Women's... Dec 2021
PubMed: 35028392
DOI: 10.1016/j.ijwd.2021.07.009 -
Bioscience Trends Aug 2008Complete loss of function in the WRN: RecQ3 DNA/RNA helicase gene causes Werner Syndrome (WS). WS patients with genetic instability manifest an early onset of...
Complete loss of function in the WRN: RecQ3 DNA/RNA helicase gene causes Werner Syndrome (WS). WS patients with genetic instability manifest an early onset of age-related diseases including diabetes mellitus (DM), osteoporosis, atherosclerosis, and malignancy as well as early death. In 1,420 patients, WS was reported to be associated with chromosomal abnormality syndrome and other genetic diseases including Klinefelter syndrome in 2 patients, retinitis pigmentosa in 3, Wilson's disease in 1, xeroderma pigmentosum in 3, and porokeratosis Mibelli in 1. These clinical findings may support the concept of genetic instability in WS.
Topics: Exodeoxyribonucleases; Humans; Mutation; RecQ Helicases; Werner Syndrome; Werner Syndrome Helicase; Xeroderma Pigmentosum
PubMed: 20103920
DOI: No ID Found -
Actas Dermo-sifiliograficas Feb 2024
Review
Topics: Male; Humans; Porokeratosis; Scrotum; Buttocks
PubMed: 38048959
DOI: 10.1016/j.ad.2023.11.005