February 2016 in “Acta Medica Marisiensis” This case study presents what is reportedly the first association of Graham Little-Lassueur Syndrome with chronic hepatitis C, observed in a 47-year-old female patient.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.
April 2015 in “Journal of the American Academy of Dermatology” This case study suggests that the most likely diagnosis for the patient with a pink, scaling rash is secondary syphilis.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
December 2022 in “Research Square (Research Square)” In this study, a comprehensive treatment approach involving multiple therapies was found to play a crucial role in managing hidradenitis suppurativa in patients with intellectual and developmental disorders despite practical challenges.
4 citations
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May 2020 in “Journal of the American Academy of Dermatology” This study found that hidradenitis suppurativa encounters most commonly occur with family or internal medicine providers, with frequent opiate prescriptions and low use of nonantibiotic systemic treatments.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This paper outlines the chronic inflammatory skin disorder hidradenitis suppurativa, emphasizing its symptomatology, associated systemic diseases, known risk factors, and treatment strategies, including medical and surgical interventions depending on disease severity, while highlighting its significant impact on patients' quality of life.
54 citations
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April 2011 in “Journal of Multidisciplinary Healthcare” This study found that African-American and Hispanic patients with systemic lupus erythematosus reported higher levels of unmet psychological needs and may be more prone to depression and anxiety due to SLE-related challenges.
April 2023 in “Journal of Investigative Dermatology” This research reexamined transcriptomic data to study stem and progenitor cell proliferation in psoriasis, finding that the number of committed progenitor cells increased eight-fold in psoriatic skin without altering stem cell numbers, potentially identifying new therapeutic targets.
1 citations
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January 2025 in “Women s Health Reports” In this study conducted in Trinidad, higher income was associated with reduced risk of menstrual dysfunction and combined hyperandrogenism/menstrual dysfunction, impacting mental and overall health in women with probable PCOS.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
64 citations
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May 2003 in “Journal of health psychology” This study found that women with PCOS reported higher overall psychological distress, but there was no significant link between their perceived hirsutism and this distress.
3 citations
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September 2024 in “Journal of Microbiology and Biotechnology” This study found that human placenta hydrolysate effectively inhibited atopic dermatitis development in stimulated human cells and a mouse model, suggesting its potential as a therapeutic agent for related skin diseases.
41 citations
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May 2020 in “Frontiers in immunology” This review discusses the genetic, autoinflammatory, and keratinization factors involved in hidradenitis suppurativa and presents the concept of classifying it as an autoinflammatory keratinization disease, but reports no new clinical results.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
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.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
April 2020 in “Journal of the Endocrine Society” This case report highlights the importance of considering pituitary stalk interruption syndrome as a potential diagnosis for patients with short stature, as early detection may allow those affected to achieve normal height.
July 2020 in “Nepalese journal of ophthalmology” This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.
September 2025 in “Middle East Fertility Society Journal” This study found that 10.3% of female high school students in Islamabad screened positive for PCOS, with associations including irregular menstrual cycles and higher BMI among those testing positive.
January 2026 in “Journal of International Crisis and Risk Communication Research” This study found that while female college students had higher awareness and knowledge of PCOS than males, overall awareness of idiopathic intracranial hypertension was low, revealing significant gaps in healthcare education and access for these conditions.
71 citations
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January 2011 in “Journal of cutaneous pathology” This case report describes the first confirmed instance of trichodysplasia spinulosa in a child with Down syndrome and leukemia, linking it to the TS-associated polyomavirus.
19 citations
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August 2018 in “JAMA dermatology” This study found that skin mesenchymal stem cells from hidradenitis suppurativa patients overexpress proinflammatory and anti-inflammatory cytokines, suggesting their potential contribution to the disease's pathogenesis.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
This study found that patients with psoriasis had a significantly higher prevalence of autoimmune diseases and other comorbidities compared to individuals without psoriasis.
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.
3 citations
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May 2013 in “PubMed” This review discusses Hutchinson-Gilford progeria syndrome, highlighting its phenotype, pathogenesis, and its potential insights into natural aging and cardiovascular diseases, but it reports no new research findings.
143 citations
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September 1991 in “Archives of Dermatology” In this study, patients with generalized pustular psoriasis were classified into subgroups to better understand the disease's variability and assist in treatment selection, highlighting the role of localized infections in triggering flares.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
1 citations
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February 2009 in “Clinical and Experimental Dermatology” This study reports an improvement in lymphomatoid papulosis type A in a 52-year-old patient who concurrently used hormone-replacement therapy.