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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 -
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 -
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, 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 -
Indian Journal of Dermatology 2022
PubMed: 36386089
DOI: 10.4103/ijd.ijd_897_21 -
Diagnostics (Basel, Switzerland) Mar 2023Fordyce spots (FS) are heterotopic sebaceous glands affecting mostly oral and genital mucosa, commonly misdiagnosed with sexually transmitted infections. In a...
Fordyce spots (FS) are heterotopic sebaceous glands affecting mostly oral and genital mucosa, commonly misdiagnosed with sexually transmitted infections. In a single-center retrospective study, we aimed to assess the ultraviolet-induced fluorescencedermatoscopy (UVFD) clues of Fordyce spots and their common clinical simulants: molluscum contagiosum, penile pearly papules, human papillomavirus warts, genital lichen planus, and genital porokeratosis. Analyzed documentation included patients' medical records (1 September-30 October 2022) and photodocumentation, which included clinical images as well as polarized, non-polarized, and UVFD images. Twelve FS patients were included in the study group and fourteen patients in the control group. A novel and seemingly specific UVFD pattern of FS was described: regularly distributed bright dots over yellowish-greenish clods. Even though, in the majority of instances, the diagnosis of FS does not require more than naked eye examination, UVFD is a fast, easy-to-apply, and low-cost modality that can further increase the diagnostic confidence and rule out selected infectious and non-infectious differential diagnoses if added to conventional dermatoscopic diagnosis.
PubMed: 36900129
DOI: 10.3390/diagnostics13050985 -
Case Reports in Dermatology 2023Porokeratosis is a group of well-known clinically distinct entities, characterised by different clinical aspects, but sharing a single common histological aspect, namely...
Porokeratosis is a group of well-known clinically distinct entities, characterised by different clinical aspects, but sharing a single common histological aspect, namely the cornoid lamella. Usually, porokeratosis occurs in the limbs and trunk, while it rarely involves the face, especially as an exclusive, single, and solitary lesion. We report the case of a 52-year-old Caucasian woman, with an 11-month history of a 2-cm slowly growing solitary, keratotic lesion on her left cheekbone. The patient did not present other cutaneous lesions on the face, as well as in other body sites. A cutaneous biopsy showed epidermal hyperplasia with multiple, sharply defined cornoid lamella, associated with an underlying attenuation of the granular layer and scattered dyskeratotic cells in the spinous layer. The superficial dermis underneath showed a mild lymphocytic infiltrate and fibrosis with remodelled collagen bundles. A final diagnosis of solitary facial porokeratosis was made.
PubMed: 37899946
DOI: 10.1159/000530936 -
Indian Dermatology Online Journal 2018
PubMed: 30505798
DOI: 10.4103/idoj.IDOJ_76_18