10 citations
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January 1989 in “Archives of Dermatological Research” The method effectively analyzes human hair proteins, especially nonfilamentous ones.
2 citations
,
March 2017 in “Sultan Qaboos University medical journal” This case report describes a six-month-old infant with focal scalp hair heterochromia and no detectable underlying abnormalities, which was still present at a one-year follow-up.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
August 2022 in “JAAD case reports” This case report describes a 36-year-old woman with hidradenitis suppurativa whose condition progressed to rapidly fatal squamous cell carcinoma, highlighting the potential for aggressive tumor development linked to specific protein markers.
14 citations
,
March 2010 in “Gynecological endocrinology” This article provides an overview of treatment options for hirsutism, summarizing both pharmacologic and non-pharmacologic approaches, but reports no new clinical results.
August 2025 in “Cermin Dunia Kedokteran” This article discusses Human Metapneumovirus (HMPV) and highlights the need for continued research, noting that while supportive treatments exist, no vaccines or specific therapies are currently available.
11 citations
,
January 2013 in “Indian Journal of Endocrinology and Metabolism” This case study describes an extremely rare instance of androgen-secreting adrenocortical carcinoma in a patient with non-classical congenital adrenal hyperplasia.
20 citations
,
October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
15 citations
,
November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
3 citations
,
October 2021 in “Postepy Dermatologii I Alergologii” This study found that evaluating terminal hair growth on the chin, thighs, and either the upper lip or lower abdomen could streamline the modified Ferriman-Gallwey scoring, aiding hirsutism diagnosis under pandemic conditions.
30 citations
,
June 2019 in “Frontiers in Endocrinology” This article discusses the challenges in diagnosing non-classical congenital adrenal hyperplasia and emphasizes personalized treatment approaches, reporting no new clinical results.
21 citations
,
November 2014 in “Journal of Endocrinological Investigation” This review discusses cross-sex hormone therapy for managing gender dysphoria in transsexual individuals and reports no new clinical results; it highlights the need for education and culturally sensitive training for healthcare professionals.
This study found that hair cortisol concentrations in mother-daughter pairs are a potential biomarker for cortisol responses to chronic stress, with daughter-mother similarities affected by parenting styles and children's symptoms.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
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.
42 citations
,
October 2004 in “Experimental and Clinical Endocrinology & Diabetes” In this study, PCOS was the most common cause of hirsutism among Turkish women, but about 17% had idiopathic hyperandrogenemia with no clear cause identified.
11 citations
,
February 2008 in “British journal of nursing” This article reviews idiopathic hirsutism, focusing on its definition, diagnosis, causes, and treatment options, without presenting new clinical findings.
1 citations
,
October 2022 in “Curēus” This case report highlights the challenges in diagnosing simple-virilizing congenital adrenal hyperplasia, emphasizing the importance of early expert evaluation to prevent irreversible changes such as virilization.
10 citations
,
January 2003 in “Seminars in reproductive medicine” This review covers the pathophysiology, diagnosis, evaluation, and treatment of hirsutism and reports no new clinical findings.
1 citations
,
January 2024 in “International Journal of Epidemiology” This study describes the ongoing HABIT study in Taicang, China, which aims to identify risk factors and the relationship between cardiovascular and neurodegenerative diseases among 10,357 adults, by collecting and analyzing long-term data on health, lifestyle, and biological specimens. Results are not yet available.
9 citations
,
February 2019 in “Journal of Clinical Research in Pediatric Endocrinology” In this study, children with classical congenital adrenal hyperplasia were found to have increased epicardial fat thickness, which was associated with subclinical atherosclerosis markers and left ventricular dysfunction, especially in poorly controlled cases.
15 citations
,
January 2012 in “International journal of trichology” This study found that the HairCheck® device, demonstrating high correlation between its Hair Mass Index and hair characteristics such as strand number and diameter, may be an effective tool for assessing hair mass changes in alopecia patients.
January 2026 in “China National GeneBank DataBase” This study found that human hair follicle-derived mesenchymal stem cells demonstrated enhanced wound healing capabilities compared to umbilical cord-derived stem cells in laboratory and animal models.
May 2022 in “Gastroenterology” This study suggests that supplemental testosterone therapy in men with hepatitis C virus may be associated with a modest reduction in hepatocellular carcinoma risk, challenging concerns about its potential to increase cancer risk.
30 citations
,
April 1997 in “European journal of endocrinology” The document concludes that managing hirsutism involves identifying the cause, using a scoring system for severity, combining cosmetic and medical treatments, encouraging weight loss, and providing psychological support, while noting the need for more research on drug treatments.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.