1 citations
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September 2017 in “Journal of Investigative Dermatology” The researchers reported that inhibiting 11β-HSD1 activity in human dermal papilla cells may reduce the negative effects of glucocorticoids on hair growth, suggesting potential treatment for stress-related hair loss.
May 2021 in “Journal of the Endocrine Society” This case report describes the rare association of an ovarian Leydig cell tumor and primary hyperparathyroidism in a postmenopausal woman, highlighting the importance of considering rare causes in patients with virilizing symptoms.
1 citations
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September 2013 in “The Journal of Dermatology” An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study analyzed pediatric and adult patients with antibody deficiencies at a PID center, finding frequent severe infections and genetic mutations, with treatment primarily involving IVIG replacement therapy.
January 2024 in “Circulation” This commentary explores the role of PCSK9 as a target for drug development, underscoring that individuals with PCSK9 loss-of-function mutations experience significantly lowered LDL cholesterol levels and reduced coronary events, suggesting that full inactivation of PCSK9 is effective and safe.
1 citations
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July 2023 in “Clinical Cosmetic and Investigational Dermatology” In this report, a 54-year-old woman with familial dyskeratotic comedones showed slight improvement in skin lesions after topical retinoids and urea cream. This source also describes the first dermoscopic findings for this condition and reviews 21 previous cases.
This article suggests that alopecia areata may be an early skin manifestation of hereditary hemochromatosis in individuals predisposed to autoimmunity, recommending iron status evaluation during AA diagnosis; it reports no new clinical results.
11 citations
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January 2014 in “Egyptian Journal of Dermatology and Venereology” This study found that women with female-pattern hair loss had significantly lower serum levels of 25-hydroxyvitamin D compared to healthy controls, but it does not establish causation.
This study found that adalimumab treatment led to regression of lesions in two patients with hidradenitis suppurativa after 16 weeks of therapy.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
140 citations
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April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the 1αOHase enzyme, which is responsible for producing a key vitamin D metabolite, showed impaired epidermal differentiation and delayed recovery of skin barrier function after disruption.
This study found that CMV infection in a mouse model of allogeneic transplantation was associated with increased allo-reactive T cell expansion and exacerbated graft-versus-host disease, highlighting the need for effective GvHD prophylaxis and treatment.
June 2026 in “Comprehensive Psychoneuroendocrinology” In this study, researchers observed a curvilinear relationship between loneliness and hair cortisol concentration among older adults at elevated cardiovascular risk, with cortisol levels higher at low-to-moderate loneliness and lower at higher loneliness, though results were sensitive to some data exclusions.
This case report details the occurrence of paroxysmal nocturnal haemoglobinuria in a 19-year-old woman with systemic lupus erythematosus to raise clinician awareness of this rare association.
This study reported a rare case of a young woman with complete heart block as the initial sign of systemic lupus erythematosus despite being negative for anti-SSA antibodies, highlighting the diagnostic utility of anti-PM-Scl 100 antibodies and nailfold capillaroscopy.
4 citations
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January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
January 2023 in “Pediatrics International” This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.
6 citations
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April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
December 2016 in “Journal of Pakistan Association of Dermatologists” This case study describes a 22-year-old woman with hirsutism who experienced symptom reversal through addressing nonclassical adrenal hyperplasia and polycystic ovaries alongside laser hair removal.
35 citations
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June 2011 in “British Journal of Dermatology” This study found that in an Italian population, the HLA-DQB1*03 allele was associated with increased susceptibility to alopecia areata, particularly in cases with more than 50% hair loss.
September 2023 in “Journal of the American Academy of Dermatology” In this study, no significant differences in hidradenitis suppurativa severity or testosterone levels were found between women with and without polycystic ovary syndrome, suggesting PCOS does not predict poor prognosis in HS patients.
May 2020 in “Current developments in nutrition” This study found that a low dose of finasteride over 12 weeks did not alter the lipid profile or adiposity index in atheroprone Ldlr−/− mice.
99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
1 citations
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October 2023 in “Skin research and technology” This study found that line-field confocal optical coherence tomography effectively visualized key diagnostic features of classic lichen planopilaris in real time, suggesting its potential as a valuable diagnostic tool.
July 2025 in “Human Genomics” This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
8 citations
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August 2013 in “Pediatric Dermatology” This article reviews loose anagen hair syndrome, an inheritable hair disorder affecting children and sometimes adults, but does not report any new clinical results.
July 2024 in “International Journal of Molecular Sciences” This study explored the effects of DPP, a 15-PGDH inhibitor, on human follicle dermal papilla cells damaged by dihydrotestosterone and observed that DPP enhanced wound healing, reduced reactive oxygen species, and increased hair growth in ex vivo human hair follicle cultures.
October 2023 in “CHEST Journal” This case report illustrates that diffuse alveolar hemorrhage can be a serious initial manifestation of systemic lupus erythematosus, characterized by progressive dyspnea, hemoglobin decrease, and respiratory symptoms.