7 citations
,
September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
7 citations
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March 2022 in “Molecules” This study found that 5-bromo-3,4-dihydroxybenzaldehyde (BDB) promoted hair growth in rat vibrissa follicles by activating Wnt/β-catenin and autophagy pathways and inhibiting the TGF-β pathway in dermal papilla cells.
2 citations
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September 2024 in “PLoS ONE” This study suggests that combining bendamustine with tucidinostat may improve survival in patients with relapsed or refractory adult T-cell leukemia/lymphoma, highlighting its potential for clinical investigation.
47 citations
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August 2024 in “Science Advances” This study introduces a new biomimetic double wound mask designed to promote scarless healing by coordinating multiple biological pathways and providing enhanced protection and nourishment to wounds.
18 citations
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September 2024 in “Journal of the European Academy of Dermatology and Venereology” This review found that the DLQI is widely used as a benchmark in the development and validation of dermatology quality-of-life measures.
3 citations
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October 2021 in “Brain Sciences” This review hypothesizes that risperidone long-acting injectable may be linked to bullous pemphigoid in a bipolar patient, though current studies report mixed results.
89 citations
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January 2020 in “PubMed” This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.
1 citations
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October 2022 in “Molecular therapy” This study found that betibeglogene autotemcel significantly improved transfusion independence in 89% of patients with transfusion-dependent beta-thalassemia, although the high cost and manufacturing challenges may limit widespread adoption.
7 citations
,
January 1989 in “Leprosy Review” This report describes a woman with borderline lepromatous leprosy who developed a serious skin reaction to dapsone; she recovered quickly after stopping dapsone and receiving corticosteroids.
1 citations
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January 2009 in “The Open Dermatology Journal” This case report describes a patient with diffuse large B cell lymphoma who experienced temporary Beau’s lines and onycholysis while undergoing R-CHOP chemotherapy, which resolved two months after treatment ended.
December 2011 in “The Diabetes Educator” This article describes how a new blood glucose management service at the NIH Clinical Center improved safety and patient outcomes for hospitalized patients with diabetes.
22 citations
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August 2020 in “Health and Quality of Life Outcomes” In this study, the DLQI demonstrated reliable psychometric properties and a unidimensional structure for assessing health-related quality of life in Brazilian patients with various skin conditions.
July 2012 in “Hair transplant forum international” This article defines body dysmorphic disorder as excessive concern over perceived physical defects that cause distress and affect social or functional activities, but it reports no new results.
April 2023 in “Journal of Investigative Dermatology” This case study reports an unusual presentation of primary cutaneous diffuse large B-cell lymphoma–leg type occurring on the upper lip of an 81-year-old woman, highlighting the need for timely recognition of atypical manifestations.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
November 2018 in “Journal of dermatology & cosmetology” This manuscript reports on the first case of perforating necrobiosis lipoidica in Colombia, marking the 19th documented case worldwide.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
January 2025 in “Ciência Rural” This case study reports a cutaneous adverse drug reaction in a dog caused by prolonged topical exposure to benzyl benzoate, leading to irritant contact dermatitis, but healing occurred within three weeks after changing treatment.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
99 citations
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May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
January 2024 in “Editora In Vivo eBooks” This case report documents a dog with dermatophytosis, caused by the fungus Microsporum canis, presenting symptoms like alopecia in the neck and ear, highlighting the condition's prevalence in tropical and temperate climates and its zoonotic nature.
33 citations
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May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
36 citations
,
July 2004 in “Journal of Controlled Release” This study demonstrates that confocal laser scanning microscopy can effectively visualize the rapid diffusion and penetration pathway of a dye into the hair follicle in fresh human scalp skin.
39 citations
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October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.