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Indian Dermatology Online Journal 2017
PubMed: 28761862
DOI: 10.4103/idoj.IDOJ_284_16 -
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 -
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 -
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 -
Skin Appendage Disorders Nov 2021The lesions of porokeratosis (PK) lead to skin atrophy and scarring as long as they spread centrifugally. PK affecting the nail unit is seldom described.
BACKGROUND
The lesions of porokeratosis (PK) lead to skin atrophy and scarring as long as they spread centrifugally. PK affecting the nail unit is seldom described.
OBJECTIVE
The aim was to revise the previously reported cases of ungual PK and to present 3 new cases.
METHODS
A PubMed search was performed with the keywords "nail" and "porokeratosis." Previously reported cases as well as 3 new cases are depicted in tables.
RESULTS
Only 11 cases of ungual PK were found; 3 new cases have been added. All patients presented with typical lesions of PK (Mibelli, isolated, segmental, or ostial eccrine types) that happened to affect nails due to nail matrix or nail bed compromise, resulting in mild to severe nail scarring, including irreversible anonychia. The present 3 case series contrast with the previous single case reports.
CONCLUSIONS
PK affecting the nails is exceedingly rare. Changes in nails affected by PK are irreversible, since, as on the skin, this is a chronic scarring process.
PubMed: 34901183
DOI: 10.1159/000516304 -
Medicine Oct 2016Mycosis fungoides (MF) is the most common form of primary cutaneous T cell lymphoma. Narrowband ultraviolet B light (NBUVB) is used increasingly in treating MF because... (Review)
Review
Mycosis fungoides patient accompanied actinic keratosis, actinic keratosis with squamous cell carcinoma transformation, and porokeratosis after NBUVB therapy - 1st case report and review of the literature.
INTRODUCTION
Mycosis fungoides (MF) is the most common form of primary cutaneous T cell lymphoma. Narrowband ultraviolet B light (NBUVB) is used increasingly in treating MF because of its good toleration and well-established management.
CONCERNS
To discuss the risk factors and underlying pathogenic factors in the patients with secondary skin diseases after NBUVB therapy.
METHODS
We report in details the first case of a patient with MF accompanied with actinic keratosis (AK), AK with squamous cell carcinoma (SCC) transformation and porokeratosis after NBUVB therapy. Meanwhile, Sequence variants in tumor suppressor p53 gene in the patient's specimens were detected. A literature search of the key word "narrowband ultraviolet B light "and "side effects" was performed on PubMed, 14 cases of this entity were found. A total of 15 patients including our case were reviewed in this study and meaningful conclusion could be drawn.
OUTCOMES
The mean age at diagnosis of secondary skin dermatoses after NBUVB therapy was 62.08 years with a male to female ratio of 2:1. The cases were reported more in Europeans than in Asians (2.75:1), and the Fitzpatrick skin type was mainly Ito III (12/15). The mean cumulative number and cumulative dose of UVB treatments were 43.71 and 42, 400 (mJ/cm), respectively. There was a positive relationship between Fitzpatrick skin type and cumulative dose of UVB treatments. Among the secondary skin diseases after NBUVB treatment, 12 were tumors, 2 were non-tumorous dermatoses. Only our patient presented with both. By polymerase chain reaction-single nucleotide polymorphism (PCR-SNP) analysis, C-G mutation of exon 4 of p53 was found in AK and MF specimens in our patient.
CONCLUSION
To our knowledge, our case is the first MF patient accompanied with AK, AK with SCC transformation and Porokeratosis after NBUVB treatment. Lower Fitzpatrick skin type may be the risk factor of secondary skin diseases after NBUVB treatment.
Topics: Carcinoma, Squamous Cell; Cell Transformation, Neoplastic; Female; Humans; Keratosis, Actinic; Middle Aged; Mycosis Fungoides; Porokeratosis; Skin Neoplasms
PubMed: 27741114
DOI: 10.1097/MD.0000000000005043 -
Indian Journal of Dermatology 2022We report a case of porokeratosis ptychotropica with a rare manifestation. Dermoscopy showed dotted vessels, cerebriform pattern, white scales, and brown and greyish...
We report a case of porokeratosis ptychotropica with a rare manifestation. Dermoscopy showed dotted vessels, cerebriform pattern, white scales, and brown and greyish white tracks in the periphery over a red-brown background. A skin biopsy confirmed the diagnosis from the presence of cornoid lamellae.
PubMed: 36998821
DOI: 10.4103/ijd.ijd_1145_20 -
Cureus Feb 2024Porokeratosis encompasses a diverse group of dermatoses, both acquired and genetic, marked by a keratinization disorder. Porokeratosis of Mibelli (PKM) presents as...
Porokeratosis encompasses a diverse group of dermatoses, both acquired and genetic, marked by a keratinization disorder. Porokeratosis of Mibelli (PKM) presents as solitary plaques or multiple papules/macules with central atrophy and raised hyperkeratotic borders. Here, we present a case of giant porokeratosis (GPK), a rare form often considered a morphological variant of PKM, with unique clinical and histopathological aspects. Our case involves a 29-year-old patient with a 15 × 10 cm irregular plaque on the dorsal aspect of the right hand. The patient was previously prescribed various topical treatments (retinoids, calcineurin inhibitors, and combinations of corticosteroids with vitamin D3 analogs) and systemic retinoids without improvement before presenting to our department. Due to the high risk of neoplastic transformation and the unavailability of imiquimod, the patient was recommended topical 5-fluorouracil treatment. The trajectory of the lesion under treatment revealed a favorable evolution, and the patient was subjected to regular monitoring every three months to assess the ongoing progress. Recognizing GPK as a high-risk variant is crucial for dermatologists, and it requires a personalized approach. Regular monitoring is advised to detect potential malignant transformations promptly. Future research holds promise for diagnostic advancements, refined treatment modalities, and a deeper understanding of the molecular mechanisms underlying malignancy in porokeratosis.
PubMed: 38558715
DOI: 10.7759/cureus.55155 -
International Journal of Women's... Dec 2021
PubMed: 35028392
DOI: 10.1016/j.ijwd.2021.07.009 -
Indian Journal of Dermatology 2021Porokeratosis ptychotropica (PP) is a rare variant of porokeratosis characterized by pruritic, symmetrical, red-brown verrucous papules, and plaques most commonly...
Porokeratosis ptychotropica (PP) is a rare variant of porokeratosis characterized by pruritic, symmetrical, red-brown verrucous papules, and plaques most commonly localized within the gluteal fold. Herein, we report the clinical, dermoscopy, and reflectance confocal microscopy (RCM) aspects of a case of PP in a 63-year-old Caucasian woman along with histopathological correlation. Both dermoscopy and RCM were able to recognize the , the histopathological clue shared by all clinical variants of porokeratosis. These non-invasive techniques may help in the differential diagnosis with other inflammatory/infectious and neoplastic disorders that may clinically resemble PP, but show distinct patterns.
PubMed: 35068510
DOI: 10.4103/ijd.ijd_894_20