July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
In this case study, a 70-year-old male with lymphoid variant hypereosinophilic syndrome presented with rare isolated pulmonary involvement, which improved with prednisone treatment.
19 citations
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October 2019 in “Clinical and Experimental Dermatology” This study found that spironolactone significantly reduced pain, lesion count, and disease severity in patients with hidradenitis suppurativa, as reported in multiple patient cohorts.
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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January 2012 in “Dermatology” Finasteride helped treat a 28-year-old's facial skin condition.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
1 citations
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October 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This case report describes a patient developing hidradenitis suppurativa-like lesions after undergoing gamma secretase complex inhibitor therapy for desmoid tumours, illustrating potential skin toxicity linked to the treatment.
256 citations
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March 2019 in “Journal of the American Academy of Dermatology” This review provides graded evidence and a therapeutic algorithm for managing hidradenitis suppurativa, but does not present new clinical results.
4 citations
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June 2002 in “Clinical and experimental dermatology” This review discusses current treatments and management strategies for hidradenitis suppurativa, noting the mixed effectiveness of various therapies, including surgery, antibiotics, and hormonal treatments, but reports no new clinical findings.
52 citations
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November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
61 citations
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April 2021 in “Frontiers in Medicine” This study found that hidradenitis suppurativa significantly impaired quality of life in German patients, with severity linked to skin and certain extra-cutaneous changes, but not reduced by surgical or conventional medicamentous treatments.
9 citations
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August 2021 in “Experimental dermatology” This review examines the dysregulation of innate immune barriers in the early stages of hidradenitis suppurativa and calls for further research on the role of the hair follicle and immune responses, but reports no new results.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
112 citations
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January 2013 in “Experimental dermatology” This article offers a viewpoint on hidradenitis suppurativa pathogenesis, suggesting that impaired Notch signalling from γ-secretase mutations may drive inflammation and link the condition to other Th17-driven diseases.
2 citations
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April 2008 in “Experimental Dermatology” This article reviews the pathophysiology of hidradenitis suppurativa and suggests that a complex interplay of genetic, immunological, and biomechanical factors contributes to the condition, but presents no new clinical findings.
January 2025 in “Clinical Case Reports” This case study details the successful treatment of macrophage activation syndrome with dexamethasone and cyclosporine in a 36-year-old woman with adult-onset Still's disease, highlighting the critical importance of timely aggressive treatment.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
9 citations
,
April 2021 in “Climacteric” This study provides a guideline for the safe and effective use of testosterone in women with hypoactive sexual desire disorder, recommending systemic transdermal testosterone for appropriate candidates while highlighting the importance of informed consent and monitoring due to unestablished long-term safety.
3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
1 citations
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January 2017 in “Expert opinion on orphan drugs” This study reviews current systemic treatments for hidradenitis suppurativa, highlighting traditional methods and new options like biological agents, and suggests that pharmacological therapies show promise, particularly for non-advanced cases, despite the disease's complex etiology involving factors such as genetics and inflammation.
In a human genetic study on hidradenitis suppurativa, researchers identified 12 genetic risk loci and found that CXCR4-CD74 signaling may play a key role in hair follicle inflammation, suggesting CXCR4 blockade as a potential therapeutic approach for this condition.
41 citations
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November 2019 in “Journal of Ultrasound in Medicine” This study found that 70-MHz ultrasound can detect early signs of hidradenitis suppurativa linked to severity, including hair follicle abnormalities and keratin fragmentation, aiding in diagnosis and management.
April 2021 in “The journal of heart and lung transplantation/The Journal of heart and lung transplantation” This case report describes a woman with Sheehan's syndrome, leading to severe combined systolic and diastolic heart failure, where treatment improved cardiac function.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that impaired Nrf2 signaling and its relationship with keratin 16 may contribute to follicular hyperkeratinization and occlusion in hidradenitis suppurativa, opening new therapeutic avenues.
October 2022 in “Journal of advanced research in medicine” This case study reports that a 52-year-old woman with Sheehan syndrome improved after receiving hormone replacement therapy, highlighting its importance for patients with similar symptoms.
3 citations
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January 2008 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This article reviews factors influencing hidradenitis suppurativa, its clinical diagnosis, and the diverse management approaches but presents no new clinical findings.
20 citations
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April 2021 in “Journal of Womens Health” This guideline provides evidence-based recommendations for prescribing testosterone therapy to women with hypoactive sexual desire disorder, noting a moderate therapeutic benefit but highlighting limited data and regulatory challenges.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.