January 2023 in “Brazilian Journals Editora eBooks” HPLC may detect prediabetes and diabetes earlier than Immunoturbidimetry because it shows higher A1c levels.
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 2021 in “Authorea (Authorea)” This case report suggests that platelet-rich plasma and hair transplantation may trigger or worsen the progression of cutaneous pseudolymphoma to lymphoma, particularly in patients with a family history.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
7 citations
,
May 2014 in “Iranian Red Crescent medical journal” This case study describes a 17-year-old female with severe hirsutism diagnosed with PCOS, NC-CAH, and HAIR-AN syndrome who was successfully treated based on her specific underlying conditions.
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.
8 citations
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March 2014 in “American Journal of Pathology” This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.
1 citations
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September 2025 in “Viruses” This study of HCPS survivors in Chile found that 61.9% reported incomplete recovery at 3-6 months post-symptom onset, with ECMO users experiencing more motor dysfunction and palpitations, highlighting the need for multidisciplinary care to address persistent symptoms.
16 citations
,
August 2002 in “Journal of Interferon and Cytokine Research” In this case study, hypertrichosis in a patient with hemophilia and hepatitis C may have been induced by IFN-alpha treatment, despite the drug usually causing hair loss.
3 citations
,
September 1999 in “Journal of the European Academy of Dermatology and Venereology” This article reviews pulmonary arterial aneurysms in Behçet's disease and cites previous case reports, but it presents no new data or clinical findings.
October 2020 in “The American journal of gastroenterology” This case study reports a previously undescribed cause of drug-induced autoimmune hepatitis triggered by para-aminobenzoic acid (PABA), emphasizing the need for caution with this supplement.
November 2025 in “Journal of Investigative Dermatology” PCFCL may have unrecognized subtypes and needs more research.
5 citations
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June 2015 in “The Journal of Dermatology” This study identified "HTLV-1-associated lichenoid dermatitis" as a skin condition in HTLV-1-infected individuals, characterized by reactive eruptions associated with increased immunity toward infected CD4+ T cells.
September 2023 in “Research Square (Research Square)” This study describes the development of a prototype clinical expert system that uses a belief rule-based inference methodology to improve the risk stratification and diagnosis of polycystic ovary syndrome by addressing uncertainties in clinical data and domain knowledge.
33 citations
,
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.
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.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Hutchinson-Gilford Progeria Syndrome, its symptomatology, and the progress in developing treatment strategies, emphasizing that while a cure remains elusive, advances in understanding the disease's molecular mechanisms show promise for future approaches.
This case report describes perifollicular melanocyte regeneration in the affected skin of a patient with bullous pemphigoid, highlighting an underreported aspect of the condition in skin of color patients, and emphasizing the need for increased awareness and earlier diagnosis in this demographic.
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.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
18 citations
,
September 2003 in “International Journal of Cancer” This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.
16 citations
,
March 2011 in “Ophthalmic genetics” This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
7 citations
,
June 2000 in “Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Māzandarān/Journal of Mazandaran University of Medical Sciences” In this study, older age and fewer hepatitis vaccinations were linked to lower HBV antibody responses in nursing staff, with antibody levels declining over five years, suggesting a potential need for booster doses.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of recognizing non-classic congenital adrenal hyperplasia as a cause of hyperandrogenism and the need for genetic counseling given potential familial implications.
24 citations
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May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
1 citations
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January 2013 in “Lung India” This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.
April 2019 in “Journal of the Endocrine Society” This case study reported that even with improved adrenal androgens and testosterone levels, treating women with AH-PCOS with glucocorticoids did not significantly improve ovulatory function or hirsutism.
31 citations
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June 1997 in “International Journal of Dermatology” In this case report, a patient with Hodgkin's disease treated with ABVD chemotherapy became disease-free, and accompanying granuloma annulare skin lesions also improved.
14 citations
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January 2006 in “Skinmed” A woman developed white patches on her skin and curly hair after hepatitis C treatment, likely due to the medication interferon alpha.
December 2024 in “Annals of Medicine and Surgery” Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.