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"Case Report"
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Eccrine Angiomatous Hamartoma Treated with Multimodal Vascular Laser and Incobotulinum
Eccrine angiomatous hamartoma (EAH) is a rare benign vascular lesion that is distinguished histologically by vascular and eccrine overgrowth. We report the case of a 46-year-old woman with EAH who was successfully treated with multimodal incobotulinum toxin A, pulsed dye laser and long-pulsed neodymium-doped yttrium aluminium garnet laser.
Abstract
Eccrine angiomatous hamartoma (EAH) is a rare benign vascular lesion that is distinguished histologically by vascular and eccrine overgrowth. We report the case of a 46-year-old woman with EAH who was successfully treated with multimodal incobotulinum toxin A, pulsed dye laser and long-pulsed neodymium-doped yttrium aluminium garnet laser.
Journal Article
Novel CYLD Pathogenic Variant Associated with Multiple Cylindromas of the Scalp—A Case Report
Cylindromas are rare, benign adnexal neoplasms primarily found on the scalp and face, with a higher incidence in women. We report a 61-year-old male with multiple scalp cylindromas, leading to genetic testing that identified a novel pathogenic variant in the CYLD gene, highlighting the importance of genetic testing in these cases.
Abstract
Cylindromas are rare, benign adnexal neoplasms primarily found on the scalp and face, with a higher incidence in women and typically manifesting in the second or third decade of life. These tumours can present as single or multiple nodules, with the latter form often linked to CYLD gene mutations, particularly in the context of CYLD cutaneous syndrome. Here, we report a case of a 61-year-old male presenting with multiple cylindromas of the scalp, prompting genetic testing that revealed a novel pathogenic variant in the CYLD gene.
Journal Article
A Sporadic Diffuse Multiple Cutaneous Leiomyomatosis Mimicking Plexiform Neurofibromatosis: A Surgical Challenge
Diffuse multiple cutaneous leiomyomatosis is rare entity with varied presentation. The present case had diffuse involvement of entire back, face with large tumour mimicking plexiform neurofibroma. This condition presented a potential challenge for both diagnosis and treatment.
Abstract
A 32-year-old male presented with diffuse plaques accompanied by multiple large, painful swellings predominantly distributed over the trunk, face and both upper and lower extremities for 11 years. There was no family history of similar complaints. The histopathological examination (HPE), supplemented with special stains confirmed the diagnosis of cutaneous leiomyoma (CL). The immunohistochemical analysis showed a strong expression of smooth muscle actin. The final diagnosis of sporadic diffuse multiple cutaneous leiomyomatosis was made. This presentation of CL is uncommon and resembled plexiform neurofibroma. The clinical diagnosis of this presentation was challenging. Therefore, HPE combined with special stains aided in confirming this surgically challenging rare tumour. In resource-poor settings regular screening is required for early detection of renal cancer and other associated complications.
Journal Article
Severe Atypical Juvenile Pityriasis Rubra Pilaris Diagnosed in Adulthood with a Dramatic Improvement with Ustekinumab
Pityriasis rubra pilaris (PRP) is a rare skin disease which manifests as a psoriasiform dermatosis and palmoplantar keratoderma and has significant clinical-histopathological overlap with psoriasis. We report a case of atypical juvenile PRP definitively diagnosed during adulthood with presence of CARD14 mutation. This case demonstrates a dramatic improvement with ustekinumab and highlights the role of genetic testing in chronic disease of diagnostic uncertainty.
Abstract
Pityriasis rubra pilaris (PRP) is a rare skin disease which manifests as a psoriasiform dermatosis and palmoplantar keratoderma and has significant clinical-histopathological overlap with psoriasis. Recently, several case reports have demonstrated successful treatment of PRP with anti-IL7A and anti-IL12/anti-IL23 monoclonal antibodies. We report a case of atypical juvenile PRP definitively diagnosed during adulthood with presence of CARD14 mutation. This case demonstrates a dramatic improvement with ustekinumab and highlights the role of genetic testing in chronic disease of diagnostic uncertainty.
Journal Article
Vesiculopustular Drug Reaction with Eosinophilia and Systemic Symptoms Induced by Levetiracetam
We describe a 32-year-old-female with a vesiculopustular variant DRESS induced by levetiracetam. Our case presents both a rare cutaneous morphology and an uncommonly implicated drug.
Abstract
Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe cutaneous adverse reaction characterised by fever, lymphadenopathy, morbilliform rash, haematologic abnormalities, and multiorgan involvement. Herein, we describe a 32-year-old female presenting with a 9-day history of facial oedema, cervical and inguinal lymphadenopathy, and a pruritic rash comprised of vesicles and pustules on her face, trunk, and extremities. Her only medications were valproate, which she had been taking for several years, and levetiracetam, which was initiated 41 days prior to rash onset. On the 16th day of her rash, she was diagnosed with DRESS induced by levetiracetam (Registry of Severe Cutaneous Adverse Reactions: 5). At this point, her absolute eosinophil count was 0.9 × 109 cells/L and aspartate and alanine transaminase levels were 357 and 339 U/L, respectively. Pustules with a morbilliform rash may occur in up to 30% of DRESS cases. In rarer instances, as in our patient, DRESS can present with isolated pustules and vesicles. Similarly, although rare, DRESS can be induced by levetiracetam.
Journal Article
CARE guidelines for case reports: explanation and elaboration document
Well-written and transparent case reports (1) reveal early signals of potential benefits, harms, and information on the use of resources; (2) provide information for clinical research and clinical practice guidelines, and (3) inform medical education. High-quality case reports are more likely when authors follow reporting guidelines. During 2011–2012, a group of clinicians, researchers, and journal editors developed recommendations for the accurate reporting of information in case reports that resulted in the CARE (CAse REport) Statement and Checklist. They were presented at the 2013 International Congress on Peer Review and Biomedical Publication, have been endorsed by multiple medical journals, and translated into nine languages.
This explanation and elaboration document has the objective to increase the use and dissemination of the CARE Checklist in writing and publishing case reports.
Each item from the CARE Checklist is explained and accompanied by published examples. The explanations and examples in this document are designed to support the writing of high-quality case reports by authors and their critical appraisal by editors, peer reviewers, and readers.
This article and the 2013 CARE Statement and Checklist, available from the CARE website [www.care-statement.org] and the EQUATOR Network [www.equator-network.org], are resources for improving the completeness and transparency of case reports.
•This article provides a step-by-step guide to writing case reports that address some of the historic limitations associated with case reports.•It follows the CARE reporting guidelines and includes examples of good case reporting that will support authors writing case reports for submission to medical journals.•Systematic data collection from the point of care can help improve the delivery of care to patients and provide useful information for:◦Clinical research,◦Clinical practice guidelines, and◦Medical education.
Journal Article
Linear Atrophoderma of Moulin: A Rare Case Report and Review of the Literature
Linear atrophoderma of Moulin (LAM) is an uncommon dermatological disease characterised by linear, depressed plaques on the skin. TLAM is a rare condition; we were only able to identify 23 case reports in the published literature. The findings of this report contribute to the limited literature on LAM, highlighting the importance of accurate diagnosis and management.
Abstract
Linear atrophoderma of Moulin (LAM) is an uncommon dermatological disease characterised by linear, depressed plaques typically following Blaschko’s lines. LAM generally occurs in adolescence or early adulthood and is more commonly observed in females. The aetiology of LAM is still unclear. We report a rare case of LAM in an 18-year-old female presenting with an atypical Blaschkoid distribution (multiple band-like pattern) on her right trunk. A clinical examination and histopathological analysis were performed to make the diagnosis. Partial improvement was obtained with calcipotriol and colchicine. LAM is a rare condition; we were only able to identify 23 case reports in the published literature. The findings of this report contribute to the limited literature on LAM, highlighting the clinical variability of LAM and suggesting potential novel variants beyond the classic presentation, emphasising the importance of recognising diverse manifestations for accurate diagnosis and management. Early recognition of LAM is crucial for appropriate treatment and improved patient outcomes. Further research is needed to elucidate LAM’s aetiology and underlying mechanisms to facilitate the development of more targeted therapeutic strategies.
Journal Article