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SAGE Open Medical Case Reports 2022Genitogluteal porokeratosis is a rare localized disorder of keratinization. Due to the rarity of the case and non-specific keratotic lesion, it is often misdiagnosed...
Genitogluteal porokeratosis is a rare localized disorder of keratinization. Due to the rarity of the case and non-specific keratotic lesion, it is often misdiagnosed until a histological examination is performed. Treatment of this condition can be challenging, which comprises various topical and systemic drugs, lasers, cryotherapy, phototherapy, and also surgical intervention. Regular follow-up is necessary in the view of this disorder being a premalignant condition.
PubMed: 36467011
DOI: 10.1177/2050313X221139559 -
Biological Research May 2021The MVD gene mutations are identified in porokeratosis, which is considered a skin-specific autoinflammatory keratinization disease. However, the biological function of...
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) 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.
Topics: Animals; Animals, Genetically Modified; Cell Differentiation; Humans; Morphogenesis; Phenotype; Zebrafish
PubMed: 34051853
DOI: 10.1186/s40659-021-00341-7 -
International Journal of Clinical and... 2015Porokeratosis is characterized clinically by annular plaques with a distinct peripheral keratotic ridge and histologically by the cornoid lamella. Porokeratosis with... (Review)
Review
Porokeratosis is characterized clinically by annular plaques with a distinct peripheral keratotic ridge and histologically by the cornoid lamella. Porokeratosis with follicular involvement is rarely reported. To provide the basis of that follicular porokeratosis is a clinical variant or not. Biopsy was taken from three patients who were diagnosed porokeratosis. Routine stain was made and reviewed the literatures about well-documented cases of porokeratosis with follicular involvement. Porokeratosis with follicular involvement may have some clinical features: asymptomatic, erythematous, brownish or skin-color, less than 1 cm in the areas excluding palm and plantar, which commonly involved on middle-age. But there have still not enough proof as an independent clinical variant.
Topics: Adult; Aged; Biopsy; Hair Follicle; Humans; Male; Middle Aged; Porokeratosis
PubMed: 26097620
DOI: No ID Found -
Journal of Cutaneous Medicine and... 2018Porokeratosis is a benign hyperkeratotic skin tumour due to a clonal proliferation of keratinocytes and is characterised by a telltale annular threadlike configuration... (Review)
Review
INTRODUCTION
Porokeratosis is a benign hyperkeratotic skin tumour due to a clonal proliferation of keratinocytes and is characterised by a telltale annular threadlike configuration along the border of a skin-colored to erythematous papule that can expand centrifugally.
CASE PRESENTATION
We are presenting a clinical and dermoscopic case of pigmented disseminated superficial actinic porokeratosis (DSAP) limited to the upper trunk of a white man with sun-damaged skin. Literature Review and Conclusion: A thorough review of PubMed failed to identify any previous reports on the dermoscopic appearance of pigmented porokeratosis. On dermoscopy, the presence of black dots limited to the periphery of the lesions is due to pigment incontinence and melanophages within the superficial papillary dermis limited to the area below the cornoid lamella. Pigmented DSAP is a unique morphological presentation of porokeratosis, and it is essential to be familiar with its clinical and dermoscopic presentation.
Topics: Aged; Back; Biopsy; Dermoscopy; Humans; Keratinocytes; Male; Porokeratosis; Skin; Sunlight
PubMed: 28922948
DOI: 10.1177/1203475417733465 -
Indian Dermatology Online Journal 2020Giant porokeratosis (PK) is a rare entity. Many consider it as a variant of PK of Mibelli, while others describe it as a separate variant. The diameter may range between...
Giant porokeratosis (PK) is a rare entity. Many consider it as a variant of PK of Mibelli, while others describe it as a separate variant. The diameter may range between 10 and 12 cm and the wall of hyperkeratotic ridge may be upto 1 cm. High tropical temperature and long duration of outdoor activities without adequate clothing are known influencing factors of PK. To the best of our knowledge, only five cases of solitary giant PK and a case of disseminated giant PK have been documented from India. We report three cases of giant PK for their rarity.
PubMed: 33344352
DOI: 10.4103/idoj.IDOJ_356_20 -
Dermatologic Surgery : Official... Dec 2019Solid organ transplant recipients (SOTRs) are at an increased risk of epithelial malignancies, mainly squamous cell carcinoma, and its precursor lesions such as actinic... (Review)
Review
BACKGROUND
Solid organ transplant recipients (SOTRs) are at an increased risk of epithelial malignancies, mainly squamous cell carcinoma, and its precursor lesions such as actinic keratoses, warts, and porokeratosis, which may respond to retinoid therapy.
OBJECTIVE
To review the published evidence on the efficacy and safety of topical and systemic retinoids for the treatment and prophylaxis of malignant and premalignant conditions that mostly afflict SOTRs.
MATERIALS AND METHODS
Systematic review of the literature to summarize the level of evidence and grade of recommendation for retinoid therapy with emphasis in the SOTR population.
RESULTS
Acitretin has the highest strength of recommendation (Grade A) for prophylaxis of nonmelanoma skin cancer (NMSC) and treatment and prophylaxis of actinic keratoses in SOTR. In nonimmunosuppressed patients, acitretin and isotretinoin have a Grade B recommendation for treatment of recalcitrant warts. Topical retinoids have not shown efficacy in preventing NMSC in immunocompetent patients.
CONCLUSION
Retinoids constitute a highly efficacious alternative for the management of the most common conditions that affect SOTRs. Acitretin has the most robust evidence for chemoprophylaxis in SOTRs. Knowledge about the specific indications and expected side effects of topical and systemic retinoids may help optimize their therapeutic potential.
Topics: Acitretin; Administration, Cutaneous; Administration, Oral; Carcinoma, Squamous Cell; Dermatologic Agents; Dermatology; Evidence-Based Medicine; Graft Rejection; Humans; Immunosuppressive Agents; Isotretinoin; Keratosis, Actinic; Organ Transplantation; Skin Neoplasms; Transplant Recipients; Treatment Outcome; Warts
PubMed: 31403546
DOI: 10.1097/DSS.0000000000002072 -
World Journal of Clinical Cases May 2022Porokeratosis is a rare, acquired, or inherited disorder of keratinization. There are numerous clinical types of porokeratosis and they can coexist in one patient and...
BACKGROUND
Porokeratosis is a rare, acquired, or inherited disorder of keratinization. There are numerous clinical types of porokeratosis and they can coexist in one patient and multiple members of an affected family. However, coexistence of disseminated superficial actinic porokeratosis (DSAP) and porokeratosis ptychotropica (Ppt) is rare.
CASE SUMMARY
A 45-year-old man presented with long-standing skin lesions. Physical examination identified numerous small, brown 2-mm to 4-mm patches on his face and several hyperkeratotic, verrucous plaques on his trunk and extremities. His father and one of his brothers also had similar lesions for years. Skin biopsies indicated a cornoid lamella in the epidermis. We identified c.155G>A mutation in the mevalonate kinase (MVK) gene, which converted a serine residue to asparagine (p.Ser52Asn) and was causative for porokeratosis in this family. A clinicopathologic diagnosis of DSAP and Ppt with a novel MVK gene mutation was made. The hyperkeratotic plaques on the patient's scrotum were completely removed more than 10 times using a microwave knife.
CONCLUSION
An unusual case of DSAP coexisting with Ppt harbored a novel MVK gene mutation also present in the patient's family.
PubMed: 35663074
DOI: 10.12998/wjcc.v10.i14.4528 -
Clinical and Experimental Dermatology Jun 2021
Topics: Adult; Anal Canal; Buttocks; Exanthema; Humans; Male; Penis; Porokeratosis
PubMed: 33650728
DOI: 10.1111/ced.14600 -
Clinical, Cosmetic and Investigational... 2021Porokeratosis ptychotropica is a rare form of porokeratosis characterized by dyskeratotic skin lesions around genital area or gluteal cleft. Herein, a case of...
Porokeratosis ptychotropica is a rare form of porokeratosis characterized by dyskeratotic skin lesions around genital area or gluteal cleft. Herein, a case of porokeratosis ptychotropica was reported. The patient was a 35-year-old man, who complained of pruritic papules and plaques in the perianal and buttock region for thirteen years. On examination, well-demarcated brown plaques with a verrucous white surface and multiple satellite papules were located along the gluteal folds and buttocks sparing the anus. Histopathological examination was consistent with porokeratosis. Combined with clinical manifestations and histopathologic changes, the patient was diagnosed as porokeratosis ptychotropica. He was treated with oral acitretin 30mg/d and CO laser treatment, but the lesions showed no evident improvement after three months. Although it is not a new case, this condition is an extremely rare one that must be reviewed and emphasized. The dermatologist should keep porokeratosis ptychotropica in mind as one differential diagnosis for pruritic papules in the anogenital region.
PubMed: 34675580
DOI: 10.2147/CCID.S334682 -
Cureus Jan 2024Disseminated superficial porokeratosis is a rare dermatological disorder characterized by annular keratotic lesions, presenting diagnostic challenges due to its variable...
Disseminated superficial porokeratosis is a rare dermatological disorder characterized by annular keratotic lesions, presenting diagnostic challenges due to its variable clinical manifestations. The pathogenesis involves genetic predisposition and environmental factors, with mutations in the mevalonate pathway implicated. Despite its benign nature, this condition significantly impacts patients' quality of life, necessitating accurate diagnosis and effective therapeutic strategies. We present the case of a 45-year-old female with a three-year history of annular plaques on sun-exposed areas progressing to involve multiple body regions. The characteristic histopathological finding of coronoid lamellae confirmed the diagnosis of disseminated superficial porokeratosis. Treatment involved a multimodal approach, including topical corticosteroids, calcineurin inhibitors, and systemic retinoids, resulting in satisfactory clinical outcomes. Long-term follow-up emphasized the need for ongoing disease monitoring and patient education regarding sun protection. The presented case underscores the importance of recognizing characteristic histopathological features for accurate diagnosis and highlights the significance of long-term follow-up, disease monitoring, and patient education to optimize outcomes and enhance overall quality of life.
PubMed: 38318598
DOI: 10.7759/cureus.51736