scholarly journals Coexist of Disseminated Superficial Actinic Porokeratosis and Porokeratosis Ptychotropica with A Novel MVK Gene Mutation: A Case Report and Literature Review

2021 ◽  
Author(s):  
Hongjun Xu ◽  
Linfeng Li
Keyword(s):  
Gene Mutation ◽  
Skin Lesions ◽  
Causative Mutation ◽  
Case Presentation ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Cornoid Lamella ◽  
Physical Examinations ◽  
Skin Biopsies ◽  
Porokeratosis Ptychotropica ◽  
Mvk Gene

Abstract Background: Porokeratosis is a rare, acquired or inherited disorder of keratinization. There are numerous clinical types of porokeratosis and they could coexist in one patient and in multiple members of an affected family. However, coexist of disseminated superficial actinic porokeratosis (DSAP) and porokeratosis ptychotropica (Ppt) is rare.Case presentation: A 45-year-old man presented with long-standing skin lesions. Physical examinations found numerous small, brown 2- 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 showed a cornoid lamella in the epidermis. And we identified c.155 G>A mutation of the mevalonate kinase (MVK) gene convertting a serine residue to asparagine (p.Ser52Asn) was the causative mutation for porokeratosis in this family. The 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 by microwave knife for more than 10 times. Conclusion: We report an unusual case of DSAP coexisting with Ppt and identified a novel MVK gene mutation in this patient's family. The microwave knife is an effective and safe therapy for porokeratosis.

scholarly journals A novel MVK gene mutation in a Chinese patient with disseminated superficial actinic porokeratosis

2015 ◽  
Vol 33 (1) ◽  
pp. 45-46 ◽  
Author(s):  
Yuanyuan Xu ◽  
Xi'an Fu ◽  
Baoqi Yang ◽  
Hong Liu ◽  
Furen Zhang
Keyword(s):  
Gene Mutation ◽  
Chinese Patient ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Mvk Gene

Clinical and Dermoscopic Features of Pigmented Disseminated Superficial Actinic Porokeratosis: Case Report and Literature Review

2017 ◽  
Vol 22 (2) ◽  
pp. 229-231 ◽  
Author(s):  
Bahman Sotoodian ◽  
Muhammad N. Mahmood ◽  
Thomas G. Salopek
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Papillary Dermis ◽  
Case Presentation ◽  
Skin Tumour ◽  
Erythematous Papule ◽  
Clonal Proliferation ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Cornoid Lamella

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.

scholarly journals Liver Failure of Wilson's Disease With Manifestations Similar to Porphyria and Uncommon ATP7B Gene Mutation: A Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
Author(s):  
Ju Zou ◽  
Ying-Hao Wang ◽  
Ling Wang ◽  
Ruo-Chan Chen
Keyword(s):  
Liver Failure ◽  
Gene Mutation ◽  
Wilson’S Disease ◽  
Wide Spectrum ◽  
Rare Condition ◽  
Skin Lesions ◽  
Wilson's Disease ◽  
Case Presentation ◽  
Intron 1

Background: Wilson's disease (WD) is a rare condition; its diagnosis is challenging owing to a wide spectrum of ATP7B genotypes and variable clinical phenotypes, along with environmental factors. Few cases of WD with presentation of skin lesions and acute neurovisceral symptoms have been reported in the literature. To our knowledge, this is the first reported case of WD with an uncommon ATP7B gene mutation and rare symptoms of photosensitivity, sensation abnormality, and skin eruption occurring in a 19-year-old woman.Case presentation: We report the case of a 19-year-old woman with WD presenting with liver failure, skin manifestations, and acute neurovisceral symptoms.The rare mutation in intron 1 of ATP7B (c.51+2T > G) was further confirmed by gene sequencing. The patients' symptoms improved after administration of penicillamine and zinc therapy combined with plasma exchange. She received long-term penicillamine treatment, and her liver function was within the normal range at 1 year after discharge. However, she underwent liver transplantation at 1.5 years after discharge.Conclusions: We present a case of WD with a novel ATP7B gene mutation that may serve as a reference to generalists and specialists in hepatology or neurology of the rare clinical characteristics of WD, to prevent misdiagnosis and aid in the early diagnosis and treatment of the condition.

Photosensitization Induced by Heterophyllaea pustulata in Goats: Sequential Development of Skin Lesions

2021 ◽  
Vol 58 (3) ◽  
pp. 568-573
Author(s):  
Juan F. Micheloud ◽  
Lluís Luján ◽  
Luis A. Colque-Caro ◽  
Susana C. Núñez-Montoya ◽  
Claudio G. Barbeito ◽  
...  
Keyword(s):  
Cell Death ◽  
Oral Dose ◽  
Skin Lesions ◽  
Crust Formation ◽  
Cutaneous Lesions ◽  
Protein Ratio ◽  
Dermal Fibrosis ◽  
Sequential Development ◽  
Treatment Changes ◽  
Skin Biopsies

Five adult Saanen goats received a single oral dose of Heterophyllaea pustulata containing 42.25 μg/kg rubiadin (anthraquinone) and 3 adult goats were untreated controls. All goats were exposed to sunlight and sequential ear skin biopsies were collected before treatment and at 32 hours, 3 days, 8 days, and 15 days after treatment. Changes at 32 hours after dosing included epidermal spongiosis, single cell death and acantholysis, an increased BAX/BCL-2 protein ratio, and dermal edema. Lesions at day 3 included epidermal and adnexal necrosis, crust formation, and acanthosis. Acanthosis, hyperkeratosis, and dermal fibrosis and neovascularization were present at day 15. The pro-apoptotic (BAX)/anti-apoptotic (BCL-2) protein ratio increased at 32 hours, whereas epidermal and dermal PCNA immunolabeling increased between days 8 and 15 after treatment. The cutaneous lesions were consistent with sunlight-induced damage, and the occurrence in treated but not control goats indicates photosensitization.

scholarly journals Complicated cutaneous leishmaniasis caused by an imported case of Leishmania tropica in Japan: a case report

2021 ◽  
Vol 49 (1) ◽  
Author(s):  
Hiroyuki Kitano ◽  
Chizu Sanjoba ◽  
Yasuyuki Goto ◽  
Kazumasa Iwamoto ◽  
Hiroki Kitagawa ◽  
...  
Keyword(s):  
Cutaneous Leishmaniasis ◽  
Skin Lesions ◽  
Leishmania Tropica ◽  
Case Presentation ◽  
Imported Case ◽  
Imported Cases ◽  
History Of ◽  
Hematoxylin And Eosin ◽  
Polymerase Chain ◽  
Positive Results

Abstract Background Leishmaniasis is not endemic in Japan, and imported cases are rare. However, there are increasing concerns regarding imported cases of cutaneous leishmaniasis from endemic countries to Japan. This report describes a case of imported cutaneous leishmaniasis that was diagnosed and treated in Japan. Case presentation A 53-year-old Pakistani man presented with skin lesions on both malleoli of his right ankle and the dorsum of the left foot. The skin lesions manifested as erythematous nodules surrounding an ulcer in the center of the lesion. The lesions of the malleoli of his right ankle each measured 3 × 3 cm, and the lesion on the top of his left foot measured 5 × 4 cm. He had been living and working in Japan but had a history of a visit to Pakistan for about 2 months in 2018. The skin lesions were biopsied. Giemsa and hematoxylin and eosin staining of biopsy samples showed amastigotes of Leishmania in macrophages, and the presence of Leishmania was confirmed by skin tissue culture. Polymerase chain reaction using biopsy specimens identified Leishmania parasites, and DNA sequence analysis revealed that the species was Leishmania tropica. The patient was treated with intravenous liposomal amphotericin B for 6 days. The erythema disappeared, and the erythematous nodules resolved within 3 weeks. Conclusion This is the first report of imported cutaneous leishmaniasis caused by L. tropica from Pakistan, and it is interesting that all three testing modalities showed positive results in this case.

scholarly journals MCPIP1/Regnase-1 Expression in Keratinocytes of Patients with Hidradenitis Suppurativa: Preliminary Results

2021 ◽  
Vol 22 (14) ◽  
pp. 7241
Author(s):  
Piotr K. Krajewski ◽  
Weronika Szukała ◽  
Agata Lichawska-Cieślar ◽  
Łukasz Matusiak ◽  
Jolanta Jura ◽  
...  
Keyword(s):  
Western Blot ◽  
Mrna Expression ◽  
Hidradenitis Suppurativa ◽  
Skin Lesions ◽  
Healthy Controls ◽  
Lesional Skin ◽  
Chemotactic Protein ◽  
Healthy Control ◽  
Mrna And Protein Expression ◽  
Skin Biopsies

The pathogenesis of hidradenitis suppurativa (HS) is yet to be fully understood. However, inflammation is a key element in the development of skin lesions. The aim of this study was to evaluate the expression of monocyte chemotactic protein-1-induced protein-1 (MCPIP1) in the skin of patients suffering from HS. Skin biopsies of 15 patients with HS and 15 healthy controls were obtained and processed for immunohistochemistry, western blot, and real time PCR. The highest mean MCPIP1 mRNA expression was found in the inflammatory lesional skin of HS patients. It was significantly higher than MCPIP1 mRNA expression in the biopsies from both healthy controls and non-lesional skin of HS patients. Western blot analysis indicated that expression of MCPIP1 was elevated within both lesional and non-lesional skin compared to the healthy control. The increased MCPIP1 mRNA and protein expression level in HS lesions may indicate its possible role in the disease pathogenesis.

Histopathology of the soft parts in 50 patients with malignant external otitis

1989 ◽  
Vol 103 (4) ◽  
pp. 366-368 ◽  
Author(s):  
J. Bernheim ◽  
J. Sade
Keyword(s):  
Skin Lesions ◽  
External Otitis ◽  
Pathological Feature ◽  
External Ear ◽  
Ear Canal ◽  
Malignant External Otitis ◽  
External Ear Canal ◽  
External Canal ◽  
Skin Biopsies ◽  
Skin Coverage

AbstractReports concerning the lesions of the skin coverage of the external ear canal in malignant external otitis (M.E.O.) are very few. To evaluate this problem, we studied the skin lesions of 45 skin biopsies from 40 M.E.O. patients, 23 from regions covering the osseous part of the ear structure, seven from the cartilaginous part of the external canal and 15 from both parts. The epidermis was normal in nine, thickened in 16, with acanthotic thickening and pseudoepitheliomatous hyperplasia in 20. In the dermis the amount of collagen was normal, but it was infiltrated by the inflammatory process. Acute inflammation was observed in 16 biopsies, subacute in 23, chronic in six. A mixture of acute and chronic changes was present in 18 biopsies. No major abnormalities of the vasculature could be detected. The distinguishing pathological feature of M.E.O. concerns the typical topographic distribution of the inflammation in the osseous part of the external ear canal.

scholarly journals Macrophage Polarization in the Skin Lesion Caused by Neotropical Species of Leishmania sp

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Carmen M. Sandoval Pacheco ◽  
Gabriela V. Araujo Flores ◽  
Kadir Gonzalez ◽  
Claudia M. de Castro Gomes ◽  
Luiz F. D. Passero ◽  
...  
Keyword(s):  
Cutaneous Leishmaniasis ◽  
Macrophage Polarization ◽  
Leishmania Species ◽  
Skin Lesions ◽  
Host Cells ◽  
M2 Macrophage ◽  
M2 Macrophages ◽  
Intracellular Parasites ◽  
Skin Biopsies ◽  
Acquired Immune Responses

Macrophages play important roles in the innate and acquired immune responses against Leishmania parasites. Depending on the subset and activation status, macrophages may eliminate intracellular parasites; however, these host cells also can offer a safe environment for Leishmania replication. In this sense, the fate of the parasite may be influenced by the phenotype of the infected macrophage, linked to the subtype of classically activated (M1) or alternatively activated (M2) macrophages. In the present study, M1 and M2 macrophage subsets were analyzed by double-staining immunohistochemistry in skin biopsies from patients with American cutaneous leishmaniasis (ACL) caused by L. (L.) amazonensis, L. (V.) braziliensis, L. (V.) panamensis ,and L. (L.) infantum chagasi. High number of M1 macrophages was detected in nonulcerated cutaneous leishmaniasis (NUCL) caused by L. (L.) infantum chagasi ( M 1 = 112 ± 12 , M 2 = 43 ± 12 cells/mm2). On the other side, high density of M2 macrophages was observed in the skin lesions of patients with anergic diffuse cutaneous leishmaniasis (ADCL) ( M 1 = 195 ± 25 , M 2 = 616 ± 114 ), followed by cases of localized cutaneous leishmaniasis (LCL) caused by L. (L.) amazonensis ( M 1 = 97 ± 24 , M 2 = 219 ± 29 ), L. (V.) panamensis ( M 1 = 71 ± 14 , M 2 = 164 ± 14 ), and L. (V.) braziliensis ( M 1 = 50 ± 13 , M 2 = 53 ± 10 ); however, low density of M2 macrophages was observed in NUCL. The data presented herein show the polarization of macrophages in skin lesions caused by different Leishmania species that may be related with the outcome of the disease.

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