November 2020 in “Acta Medica Bulgarica/Acta medica Bulgarica” This case report details two patients with Graham-Little-Piccardi-Lassueur syndrome who showed marked skin lesion improvement with corticosteroid treatment, though cicatricial scalp alopecia remained unresponsive.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
December 2020 in “International Journal of Research in Pharmaceutical Sciences” This review analyzes the mnemonic MY PCOS, exploring diagnosis and treatment strategies for the metabolic, cosmetic, and reproductive complications of polycystic ovary syndrome, without reporting new clinical findings.
14 citations
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June 2013 in “Joint Bone Spine” This review discusses current anti-inflammatory treatment options for calcium pyrophosphate crystal deposition disease (CPPD) and highlights the lack of crystal-targeted therapies, emphasizing the need for more research to guide treatment.
December 2025 in “Cureus” In this case report, a 40-year-old woman with systemic lupus erythematosus developed calcinosis cutis, a rare complication characterized by calcified deposits in her legs, requiring surgical intervention and ongoing medical treatment due to infection.
This study outlines a planned double-blind, randomized controlled trial to assess the efficacy of two different doses of PRP injections for moderate carpal tunnel syndrome, focusing on variations in symptom severity, ultrasound parameters, and nerve electrophysiology, though results are not yet reported.
1 citations
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May 2025 in “The Journal of Rheumatology” This case report highlights the challenge of distinguishing between neuropsychiatric lupus and rituximab-associated progressive multifocal leukoencephalopathy in systemic lupus erythematosus patients, emphasizing the importance of early recognition and careful management.
January 2020 in “Integrative Medicine Research” July 2025 in “Dermatology Practical & Conceptual” In this study, researchers found that hair alterations such as frontal-occipital inversion in males and a high occipital hairline may aid in diagnosing the uncommon condition TRPS.
October 2023 in “Journal of the Endocrine Society” This study reported a rare case where a pheochromocytoma produced ACTH, leading to cyclic Cushing syndrome, and underscores the importance of considering this possibility in cases of ACTH-dependent hypercortisolism with an adrenal mass.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This pilot study suggests that a new preparation of platelet-rich plasma gel may improve symptoms and tissue regeneration in patients with en coup de sabre scleroderma, though further trials are needed to clarify its role.
September 2023 in “Journal of the American Academy of Dermatology” This study found that obese pediatric patients with confluent and reticulated papillomatosis responded less effectively to treatment compared to non-obese patients.
January 2014 in “Progress of Digestive Endoscopy” This case report describes a 60-year-old woman with Cronkhite-Canada syndrome whose symptoms and polyposis improved following prednisolone therapy, but emphasizes the need for periodic digestive tract screening due to associated cancer risks.
November 2022 in “Journal of the Endocrine Society” This case report suggests that genetic evaluation for glucocorticoid resistance, such as the NR3C1 gene variant, is crucial for proper diagnosis and management of patients showing atypical signs of hypercortisolism.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
October 2024 in “Journal of the Endocrine Society” This case report highlighted a rare instance of Cushing's syndrome caused by ectopic ACTH from cervical cancer, demonstrating diagnostic challenges, treatment complexity, and high risks of morbidity and mortality, with less than 10 cases documented overall.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This study reports a case of pyoderma gangrenosum in a patient with rheumatoid arthritis, emphasizing the need to consider it as a differential diagnosis when ulcerative skin lesions resemble vasculitis.
9 citations
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February 2023 in “Medicine” This review discusses the potential of traditional Chinese medicine to relieve clinical symptoms in cases of CCS and emphasizes the need for further large-scale, long-term studies to verify these effects.
6 citations
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April 2012 in “PubMed” This case report describes a 33-year-old Indian male with Cronkhite-Canada syndrome who experienced complete symptom recovery within 5 months after starting a high protein diet, proton pump inhibitors, and zinc-vitamin supplements.
January 2023 in “World Journal of Clinical & Medical Images” This report discusses a late-onset case of Cronkhite-Canada syndrome that improved with prednisone treatment, highlighting the importance of early diagnosis to reduce life-threatening complications.
October 2024 in “Journal of the Endocrine Society” In this case report, a rare association between Cushing's syndrome caused by ectopic ACTH from cervical cancer is documented, highlighting the diagnostic challenges, treatment complexity, and high morbidity and mortality, with the patient succumbing to septic shock post-surgery.
August 2024 in “Indian Dermatology Online Journal” In this retrospective study, researchers described the dermoscopic features of dermatitis cruris pustulosa et atrophicans in 30 patients, finding that follicular-based pustules and other specific features were predominant, with male patients being more affected and primarily involving the lower extremities.
8 citations
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December 2023 in “International Journal of Molecular Sciences” In this study, successful treatment outcomes with platelet-rich plasma injections in patients with IC/BPS and rUTI were associated with specific cytokine concentrations, particularly lower TNF-α levels.
2 citations
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July 2022 in “Dermatology Reports” This case study describes a 23-year-old woman with erosive pustular dermatosis of the scalp who later developed multiple sclerosis, suggesting a possible shared immunological etiology involving neutrophil hyperactivation.
This case series reports favorable outcomes for children with Parry Romberg Syndrome who underwent facial fat-grafting, showing it as a safe and well-tolerated procedure with no complications or relapses observed.
17 citations
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April 2022 in “Frontiers in Pharmacology” This study found that local platelet-rich plasma injection improved mid-term outcomes for carpal tunnel syndrome more effectively than other conservative treatments, although long-term effects and standardization need further research.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
3 citations
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October 2024 in “Experimental Dermatology” This study found that patients with alopecia areata exhibited increased CRHR1 expression on circulating monocytes compared to controls, suggesting that stress-related factors like CRH and CRHR1 may contribute to the development and progression of the condition, particularly in chronic cases and those with larger lesions.