1 citations
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August 2024 in “Indian Dermatology Online Journal” In this case report, researchers observed that a female patient with severe hidradenitis suppurativa experienced complete resolution of her lesions after starting intramuscular exogenous testosterone as part of gender transition, suggesting its potential role in disease remission when other treatments were ineffective.
2 citations
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September 2021 in “Orphanet Journal of Rare Diseases” In this study, HED patients with COVID-19 showed a higher risk of postinfection fatigue and hair loss compared to controls, suggesting they are more susceptible to long-term consequences of SARS-CoV-2 infection.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
2 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
January 2023 in “BOĞAZİÇİ TIP DERGİSİ” This study found that female adolescents with pilonidal sinus disease had significantly higher insulin levels and HOMA-IR scores, suggesting hyperinsulinemia may be a risk factor for the condition.
September 2024 in “The Neurohospitalist” Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
1 citations
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August 2011 in “Dermatology Reports” This case report describes a new family with autosomal recessive hypotrichosis simplex with woolly hair, suggesting the disorder may be underreported due to misdiagnosis.
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.
10 citations
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November 2015 in “Plant Foods for Human Nutrition” This study found that the ethyl acetate fraction of Hibiscus rosa sinensis petals significantly reduced serum glucose and glycated hemoglobin levels in diabetic rats, showing effects comparable to the standard drug metformin.
November 2024 in “Journal of Investigative Dermatology” Secukinumab reduces immune activity in hidradenitis suppurativa skin.
February 2025 in “Infectious Diseases & Immunity” This case report highlights two instances of suspected human herpesvirus 6 reactivation in patients with existing psychiatric disorders, underscoring the need for further research into the relationship between viral reactivation and psychiatric conditions.
1 citations
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July 2021 in “Clinical and Experimental Dermatology” This study suggests that finasteride is a safe and effective alternative therapy for women with hidradenitis suppurativa who have contraindications or intolerance to spironolactone.
1 citations
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March 2023 in “European Journal of Human Genetics” This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
16 citations
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September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
March 2024 in “Journal of drugs in dermatology” This study evaluated the safety and effectiveness of HASHA, a new hyaluronic acid injectable, for chin augmentation in adults with chin retrusion. HASHA significantly improved chin appearance and satisfaction over 12 months compared to controls, with only mild or moderate transient adverse events.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
June 2024 in “British Journal of Dermatology” This study reported that while both DLQI and HADS showed moderate correlations, only DLQI correlated with clinician-assessed disease severity in patients with alopecia.
39 citations
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January 2018 in “British journal of dermatology/British journal of dermatology, Supplement” This review highlights that although acne and hidradenitis suppurativa share a focus on hair follicles and innate inflammation, their genetics, risk factors, and bacterial involvement differ significantly.
April 2020 in “Journal of the Endocrine Society” This study suggests that hair cortisol measurement could serve as an alternative diagnostic method for Cushing’s disease, showing acceptable concordance with urinary free cortisol despite differing evaluated periods.
2 citations
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January 2009 in “Human cell culture” 8 citations
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December 2022 in “International journal of molecular sciences” This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
March 2018 in “Benha Journal of Applied Sciences” This study found that while prolactin and DHEA-S levels were higher in women with hirsutism compared to controls, there was no significant correlation between second to fourth digit ratio and hormonal profiles.
4 citations
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January 2022 in “Australasian Journal of Dermatology” This study found that serum HDAC1 levels are significantly higher in patients with alopecia areata compared to those with acne vulgaris and healthy controls, suggesting potential therapeutic opportunities for HDAC inhibitors.
17 citations
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August 2015 in “The international journal of lower extremity wounds/International journal of lower extremity wounds” This review discusses wound healing options after skin excision and laser treatments for hidradenitis suppurativa and reports no new clinical results.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
3 citations
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January 2021 in “Hair transplant forum international” This study found that visual hair density is better correlated with hair count and shaft diameter, leading to the development of the Hair Diameter Index used in planning hair restoration procedures.