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1.
BMJ Case Rep ; 17(2)2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38417936

RESUMO

Reed's syndrome (RS) is a rare autosomal-dominant disorder characterised by multiple cutaneous and uterine leiomyomas, with a strong tendency for renal cell carcinoma (RCC) development. A woman in her 50s, who had previously undergone total abdominal hysterectomy due to multiple uterine leiomyomas, presented with painful nodules on her trunk and right arm for the past 6 years. These nodules were confirmed as leiomyomas through histopathology. Diagnosis of RS was established through clinicopathological correlation and positive family history, particularly her mother's. Early-onset uterine leiomyomas in patients with a similar family history should raise suspicion for RS, necessitating vigilant long-term follow-up. RCC detection requires mandatory renal imaging. Screening family members and providing genetic counselling are crucial.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Leiomiomatose , Síndromes Neoplásicas Hereditárias , Neoplasias Cutâneas , Neoplasias Uterinas , Feminino , Humanos , Carcinoma de Células Renais/genética , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/cirurgia , Leiomiomatose/diagnóstico por imagem , Leiomiomatose/cirurgia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/genética , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/cirurgia , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Renais/genética , Fumarato Hidratase/genética
3.
Indian J Dermatol ; 68(6): 707-720, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38371570

RESUMO

With our better understanding of the pathogenesis of various diseases, more and more drugs and biological products are being tried and tested every day. Roughly, around 40-50 novel drugs get approved by the Food and Drug Administration (FDA) for use in the general population, making it difficult for a physician to keep track of the constant changes in therapy. This article aimed to provide a compilation of all the FDA-approved new drugs for dermatological conditions and new dermatological indications of known drugs in the recent past, especially for dermatology residents and practising dermatologists. A comprehensive analysis, based on the list of new molecular entities approved by the FDA from 2020 to 2023, as well as a thorough English language literature search from 2020 to July 2023 across multiple databases (PubMed, MEDLINE, Springer Nature, Google Scholar and Cochrane) for various keywords (alone and in combination) such as "FDA approved" OR "recent advances in therapy" OR "recent drugs" OR "novel treatment" OR "dermatology," was performed. All data extracted were incorporated into the present compilation. A total of 33 drugs, including newly approved and newly approved indications of previously known drugs, were found. Relevant information about them has been discussed in a tabulated manner. This article provides an at a glance summarised profile of the newly FDA-approved drugs, as available in the existing literature. However, with the astonishing rate of new drugs hitting the market, more and more clinical trials are required to ensure the rational use of these agents.

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