3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
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.
August 2002 in “British journal of ophthalmology” This article reports that while surgical excision is often the best treatment for SCC, intralesional cidofovir also showed success without systemic toxicity in the case discussed.
This case report concludes that the most likely diagnosis for the patient's symptoms is secondary syphilis with neurological involvement.
March 2021 in “Indian Journal of Case Reports” This case report describes a young adult female with late-stage Vogt-Koyanagi-Harada disease featuring panuveitis, retinal detachment, hearing loss, alopecia, and vitiligo, who was successfully treated in a hospital.
12 citations
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July 2011 in “European Journal of Dermatology” The authors concluded that VSCAPSI, a videodermoscopy-based assessment tool, provides evidence for early diagnosis, differential diagnosis, follow-up, and screening of scalp psoriasis.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
September 2023 in “Acta dermato-venereologica” This study found that pilonidal sinus disease is a common comorbidity with hidradenitis suppurativa and is linked with increased disease severity, suggesting it may serve as a sentinel event for identifying high-risk patients.
2 citations
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November 2011 in “Journal of Infection” This case study presents an asthma patient with H1N1 pneumonia who developed invasive Aspergillosis despite avoiding steroids, suggesting that factors other than steroid use can contribute to IA in such patients.
1 citations
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March 2000 in “PubMed” This case report describes a 16-year-old boy who developed male androgenetic alopecia with a sisaipho pattern, possibly representing a rare, wave-like evolution of alopecia areata.
1 citations
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July 2021 in “Acta dermatovenerologica Croatica” This case report describes regression of hidradenitis suppurativa lesions in two patients after 16 weeks of adalimumab treatment.
18 citations
,
December 2010 in “Transplantation Proceedings” This study reported that black hairy tongue can occur after allogeneic stem cell transplantation and may indicate cutaneous graft-versus-host disease, highlighting the need for histopathologic evaluation.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that skin organoids derived from iPSCs with an HS-associated NCSTN mutation showed defects in hair follicle stem cell differentiation and increased expression of inflammatory proteins related to hidradenitis suppurativa.
14 citations
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January 2015 in “Acta dermato-venereologica” Acitretin significantly reduced inflammatory attacks in a woman with Naevus Comedonicus Syndrome but caused side effects.
14 citations
,
October 2001 in “British Journal of Ophthalmology” This case report suggests a successful outcome with intralesional cidofovir for SCC, although surgical excision remains the preferred treatment.
32 citations
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July 2001 in “Journal of the American Academy of Dermatology” This article describes a rare case of syringolymphoid hyperplasia with alopecia and anhidrosis in a female patient, emphasizing challenges in diagnosis and treatment unresponsiveness despite the condition's link to mycosis fungoides.
2 citations
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January 2016 in “Experimental Dermatology” This symposium updated participants on the latest advances in understanding and managing hidradenitis suppurativa, emphasizing the need for individualized treatment plans and highlighting recent progress in therapies and epidemiology.
April 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This source reports that a study by Liu et al. analyzed genetic factors influencing adalimumab response in hidradenitis suppurativa, finding a specific genetic variant (SNP rs59532114) associated with an inadequate response to the treatment due to increased abscess and inflammatory nodule counts.
May 2015 in “Journal of The American Academy of Dermatology” A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
2 citations
,
August 2022 in “Viruses” This study found that cutaneous squamous cell carcinomas in mice infected with murine papillomavirus preferentially arise from Lgr5+ progenitor cells, while squamous cell dysplasia does not.
16 citations
,
January 2010 in “Indian Journal of Dermatology, Venereology and Leprology” This review discusses the role of skin manifestations as early markers and prognostic indicators of HIV infection in children but reports no new clinical results.
3 citations
,
December 2022 in “The Neurologist” This report presents the first documented case of CARASIL in an Arabic patient and notes unique magnetic resonance spectroscopy findings compared to prior cases.
11 citations
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August 2021 in “Stem Cell Research & Therapy” This study reports that a single transplantation of autologous stromal vascular fraction significantly increased hair density and keratin score in androgenic alopecia patients within six months.
2 citations
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January 2019 in “Springer eBooks” This review discusses segmental vitiligo as part of the vitiligo clinical spectrum and highlights its role as a model for studying repigmentation, but reports no new clinical results.
20 citations
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July 2011 in “PLoS ONE” This study found that HPV-150 and HPV-151 are rare genotypes with a preference for skin tissue, detected in some cases of skin lesions with generally low viral loads.
1 citations
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March 2018 in “BMJ case reports” This case report describes a 30-year-old bisexual African man with neurological symptoms, generalized wasting, and ophthalmological findings, but reports no new clinical research results.
November 2006 in “評価・診断に関するシンポジウム講演論文集” This study found that KSR1 is essential for v-Ha-ras-mediated skin tumor formation in mice but not for MT-driven mammary tumor genesis, suggesting its potential as a therapeutic target in Ras/MAPK signaling.
5 citations
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May 2022 in “Lara D. Veeken” This study reports the first case of diverse medium-sized visceral arterial aneurysms in a patient with functionally impaired A20, potentially linked to HA20, and its atypical presentation in East Asia.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.