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.
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.
1 citations
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November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
18 citations
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January 2021 in “Skin Research and Technology” This study found that high-frequency ultrasound was effective in localizing deep tumor margins in basal cell carcinoma, suggesting its utility in selecting therapeutic approaches.
2 citations
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December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
2 citations
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January 2014 in “International Journal of Endocrinology” In this study, women with a complete hydatidiform mole had significantly higher pre-evacuation levels of hCG, free testosterone, and DHEA-S compared to controls, which declined after HM evacuation.
98 citations
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July 2011 in “Fertility and Sterility” This study determined that an mFG score of 5 or greater defines hirsutism among Southern Chinese women, with prevalence and score thresholds decreasing with age.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
April 2023 in “Journal of Investigative Dermatology” 3D ultrasound can detect hair follicle changes and disease phases in alopecia areata.
April 2022 in “International Journal of Health Sciences (IJHS) (En línea)” In this study, injection of cross-linked hyaluronic acid into the upper eyelid significantly improved the appearance of sunken and hollowed eyes in participants over a period of more than one year, with follow-ups at two weeks and three months.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
62 citations
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April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
July 2024 in “Journal of Investigative Dermatology” Human hair follicles have their own thyroid hormone system.
In this study, researchers evaluated hirsutism in young females aged 18-24 using the modified Ferriman-Gallwey scoring system, finding that 52% showed mild to moderate-to-severe symptoms, often linked to menstrual irregularities and underlying endocrine disorders like polycystic ovary syndrome and thyroid issues.
2 citations
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January 2005 in “PubMed” In this study, females with hirsutism showed higher levels of certain androgens and reported more frequent symptoms such as infertility and increased skin greasiness compared to those without hirsutism.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” This study found that children with classic congenital adrenal hyperplasia had elevated epicardial fat thickness, which was associated with increased carotid intima media thickness, left ventricular mass, and mitral deceleration time.
November 2020 in “Journal of the American Academy of Dermatology” Intense pulsed light with radiofrequency showed mixed results in improving quality of life for hidradenitis suppurativa patients, with no clinical improvements.
9 citations
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April 2016 in “Clinical Endocrinology” This study suggests that measuring scalp hair 17-hydroxyprogesterone and androstenedione concentrations can be a promising tool for monitoring treatment in children with congenital adrenal hyperplasia.
This study utilized 3D ultra-high frequency ultrasound to effectively detect different disease phases of alopecia areata by visualizing hair follicle structures and identifying unique pathological signs, offering a promising non-invasive diagnostic tool that surpasses conventional methods.
6 citations
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March 1996 in “Journal of Investigative Dermatology” April 2016 in “Journal of Investigative Dermatology” Iron deficiency causes hair loss by affecting hair differentiation and cycling.
4 citations
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August 2015 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study concluded that both low and incremental radiant exposures of diode lasers produced similar hair reduction and patient satisfaction, but low radiant exposure was less painful and better tolerated.
March 2021 in “Journal of The European Academy of Dermatology and Venereology” Low quality of life and high HSS-29 scores increase risk of losing patients during treatment.
August 2023 in “Diagnostics” This study observed that using ultra-high-frequency ultrasound with 70 MHz probes effectively assessed the distribution of hyaluronic acid fillers and improvements in nasolabial fold wrinkles, with significant changes in dermal thickness and wrinkle scores maintained 24 weeks after treatment.
26 citations
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September 1999 in “Canadian Journal of Botany” This study found that a recessive mutation in the RHD4 gene of Arabidopsis thaliana leads to slower and more variable tip growth in seedling root hairs, resulting in shorter and wider hairs than in wild-type plants.
8 citations
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January 1991 in “Soviet physics. Doklady” This article suggests that testosterone therapy might be considered if other treatments fail, but emphasizes discussing potential risks and benefits with patients before prescribing.
May 2023 in “Research Square (Research Square)” This study observed that the Hedgehog-GLI1 signaling pathway is upregulated in keloid patient–derived stem cells, and inhibiting this pathway reduced keloid characteristics in both mice and ex vivo tissue cultures, suggesting potential therapeutic targets for keloid treatment.
August 2026 in “Jurnal Perlindungan Tanaman Indonesia (Universitas Gadjah Mada)” This study found that horses living in lowland areas had higher physiological responses (heart rate, respiration, body temperature) compared to those in highland and coastal areas, with good overall health reported across all regions.
October 2022 in “The Egyptian Journal of Hospital Medicine” In this study, serum omentin-1 levels were higher in females with idiopathic hirsutism compared to those with hirsutism and polycystic ovary syndrome, suggesting it may help distinguish between these conditions.