Even though they may be seem hard to find, I look for the positive things in life science and medicine every day. You might not know they are occurring by scrolling through the social media platforms.
We hope this review will serve as a helpful guide for patients and dermatologists to understand, diagnose, and manage the cutaneous manifestations of Birt-Hogg-Dubé (BHD) syndrome.
“Cutaneous fibrofolliculomas and trichodiscomas in Birt-Hogg-Dubé syndrome: a review of therapeutic strategies” is now out in Dermatological Surgery! 🎉 journals.lww.com/dermatologic...
A real testament to the BHD patient advocates and @derm-scientist.bsky.social who have championed this work!
This represents a novel systemic therapeutic option for this subtype of metastatic MC and highlights the utility of bioinformatic HRDetect scoring for revealing non-canonical cutaneous malignancies driven by HRD.
In this study, we summarize the standard of care for malignant cylindroma and detail the use of WGS to uncover targetable somatic genetic drivers of malignant cylindroma, revealing non-canonical BRCA and homologous repair-deficient tumour amenable to targeting by PARP inhibition.
There are no licensed antineoplastic agents available for treatment, leaving patients with limited, empirical options in the event of metastasis.
Malignant cylindroma is a rare skin adnexal tumour which can occur in CYLD cutaneous syndrome. This cancer can metastasize with lethal outcomes and has limited genomic characterization due to its rare disease status.
CYLD cutaneous syndrome is a rare genodermatosis caused by pathogenic variants in CYLD which results in the development of cylindromas, spiradenomas, and tricoepitheliomas. www.ncbi.nlm.nih.gov/books/NBK555...
Credit to supervisors @derm-scientist.bsky.social and @serenanikzainal.bsky.social and co-authors Dr. Koh, Ms. Holt, Dr. Husain, Dr. Namini, Dr. Mathew, Dr. Memari, and Dr. Davies for their hard work on this project 👏🏼
academic.oup.com/ced/advance-...
Really pleased to see our original article published this week in Clinical and Experimental Dermatology 🎉
This paper explores the phenotype of a family with co-inheritance of BRCA2 and CYLD PVs resulting in early-onset metastatic malignant cylindroma in one patient with CYLD cutaneous syndrome.
graph of NIH basisfor new drugs
A pie graph worth keeping in mind as the NIH budget plummets jamanetwork.com/journals/jam... for 356 new FDA drugs approved
MRCP PACES ✅ onwards to dermatology training! 🎉
Grueling few months preparing for the @rcphysicians.bsky.social PACES exam is finally over. Hopeful for a positive outcome! The Spine building @ RCP North was a fitting venue.
