January 2019 in “Springer eBooks” Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
May 2021 in “Journal of Advances in Internal Medicine” This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.
September 2015 in “International Society of Hair Restoration Surgery” This project by the International Society of Hair Restoration Surgery aims to define best practices in hair restoration surgery but does not report new clinical findings.
2 citations
,
October 2023 in “Frontiers in Public Health” This study found that in Hidradenitis Suppurativa patients, the psychosocial subscale of Skindex-17 is most relevant for assessing quality of life across different severity levels, with irritation and pain becoming more pertinent as severity progresses.
1 citations
,
September 2002 in “European Journal of Endocrinology” This case study reports the clinical features of triple H syndrome in a 25-year-old man, including ACTH deficiency, alopecia universalis, and anterograde amnesia, which were improved with hydrocortisone treatment.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
4 citations
,
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.
2 citations
,
January 2020 in “Evidence-based Complementary and Alternative Medicine” This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.
4 citations
,
January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
21 citations
,
August 2017 in “Journal of veterinary internal medicine” The authors reported that a combination of amino acid and stem cell therapy may have extended survival in a dog with hepatocutaneous syndrome to 32 months post-diagnosis.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
2 citations
,
August 1999 in “PubMed” 1 citations
,
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.
2 citations
,
January 2019 in “Dermatologic Surgery” This overview describes the Dermatologic Surgery journal's extensive focus on peer-reviewed dermatologic surgery content, but it reports no new research findings.
April 2017 in “Journal of Investigative Dermatology” This study found that a 10% carbamide peroxide solution significantly reduced acne lesions more effectively than a vehicle solution, suggesting it as a safe and effective alternative to benzoyl peroxide for treating mild to moderate acne.
9 citations
,
September 2024 in “Journal of Clinical Medicine” This review examines the role of autoinflammation and immune dysregulation in hidradenitis suppurativa, linking it to genetic factors and autoinflammatory syndromes, but highlights the need for further research to fully understand its pathogenic mechanisms.
1 citations
,
September 2023 in “International Journal of Women’s Dermatology” This article discusses the teratogenic risks of skin condition treatments for individuals with DSD and notes that testosterone replacement, often used in this population, may cause acne.
3 citations
,
December 2000 in “Journal of the Royal Society of Medicine” Antiandrogen therapy may be beneficial for women with hidradenitis suppurativa.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
54 citations
,
June 2015 in “Australasian Journal of Dermatology” This study reports that oral spironolactone may be a useful and low-cost first-line treatment for hidradenitis suppurativa in women, with relatively few side effects.
5 citations
,
February 2022 in “Seminars in cell & developmental biology” This review discusses the complexities of hidradenitis suppurativa pathogenesis, highlighting issues with Notch signaling, immune dysregulation, and the role of keratinocytes and ECM, but reports no new clinical results.
September 2015 in “International Society of Hair Restoration Surgery” This article discusses the role of hair follicle stem cells in potential breakthroughs for hair cloning and follicular cell implantation, but reports no new clinical findings.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
41 citations
,
May 2024 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This guideline outlines therapies for hidradenitis suppurativa/acne inversa, noting that oral tetracyclines, clindamycin, and surgical options are important for treatment, with adalimumab, secukinumab, and bimekizumab also approved.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
September 2009 in “Annales D Endocrinologie” This article reviews the clinical signs, diagnostic approaches, and treatment options for hyperandrogenism in women, focusing on hirsutism and specifies that cyproterone acetate is effective for severe cases, but reports no new clinical results.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
May 2019 in “The Journal of Sexual Medicine” This study found no baseline factors that predicted flibanserin efficacy for HSDD, though low testosterone or use of hormonal contraceptives were associated with reduced efficacy.
10 citations
,
September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.