17 citations
,
June 2016 in “Archives de Pédiatrie” This case report describes three pediatric cases of frontal fibrosing alopecia, a condition typically seen in postmenopausal women, including a unique instance involving female twins.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
6 citations
,
October 2010 in “Gynecological Endocrinology” This study found that relatives of women with symptoms of oligo-amenorrhoea and hirsutism experienced higher rates of hirsutism, menstrual disorders, infertility, childlessness, diabetes, and hypertension compared to relatives of symptomless women.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
4 citations
,
January 2014 in “Indian dermatology online journal” This article discusses the genetic hair disorder monilethrix, characterized by beaded, fragile hair due to defective keratin genes, and reports no effective treatment currently available; variability in severity was noted among affected siblings.
1 citations
,
December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
December 2022 in “Revista Medicina Cutánea Ibero-Latino-Americana” This review summarizes current knowledge on the role of the JAK/STAT signaling pathway in alopecia areata and suggests moderate efficacy of systemic inhibitors, with low adverse events but high recurrence rates.
May 2026 in “Journal of International Medical Research” This case report describes a 4-year-old patient with complete hair loss and keratotic papules, leading to a diagnosis of atrichia with papular lesions, underscoring diagnostic challenges in resource-limited settings and suggesting a clinical framework for identifying this condition, especially in consanguineous families.
April 2026 in “International Journal of Drug Delivery Technology” This study among college-going girls in Tamil Nadu found that the average age of menarche was 12.84 years, with associations to factors like family history, lifestyle, and residential settings, highlighting a generational decline in menarche age and the need for further public health research.
March 2023 in “Revista Chilena de Urología” This review discusses post-finasteride syndrome, highlighting occasional adverse sexual and systemic effects in men and women, but reports no new research findings while emphasizing the need for better education about the drug's risks.
October 2014 in “Journal of the Portuguese Society of Dermatology and Venereology” This paper presents a therapeutic approach with excellent results in a case of lichen planopilaris overlapping with dermatomyositis and scleroderma, although broader applicability is not discussed.
November 2012 in “Annales de Dermatologie et de Vénéréologie” This report describes the first known pediatric cases of frontal fibrosing alopecia, a condition typically affecting postmenopausal women, highlighting its occurrence in children including female twins.
103 citations
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December 2021 in “Journal of biological rhythms” This review discusses recent evidence on how night-shift work affects the circadian system, sleep, and alertness in shift workers, and reports no clinical results; potential impacts on health are considered.
41 citations
,
November 2003 in “Annals of the New York Academy of Sciences” This article discusses the complexities of androgen and antiandrogen therapies in women, detailing diagnostic measures, the effects on libido, and the potential benefits of new progestins with antiandrogenic properties, but presents no new empirical findings.
25 citations
,
June 2023 in “Biomedicines” This review examined how COVID-19 infection and vaccination might affect sexual activity, sex hormones, and menstrual cycles in men and women, and found no evidence of COVID-19 transmission via semen.
21 citations
,
July 2018 in “The Journal of Sexual Medicine” This article updates the process of care model for evaluating erectile dysfunction, emphasizing comprehensive evaluation and a combination of pharmacotherapy and counseling tailored to patient dynamics.
4 citations
,
April 2024 in “Complex & Intelligent Systems” This study introduced a single-stage network using large kernel attention that effectively restores high-resolution images by capturing both global and local details, reducing parameters and improving processing speed.
February 2018 in “InTech eBooks” This review discusses the role of platelet-rich plasma therapy in various cosmetic procedures, finding potential benefits in improving tissue homeostasis if harvesting standards are maintained, but reports no new clinical results.
271 citations
,
September 2008 in “Nutrition reviews” This study identified new dietary ligands for the human vitamin D receptor, including curcumin and gamma-tocotrienol, which may influence its biological functions.
77 citations
,
July 2020 in “Cell” This study found that sympathetic nerves and arrector pili muscles form a niche that modulates hair follicle stem cell activity, revealing their role in hair follicle regeneration.
52 citations
,
August 1993 in “Clinical endocrinology” This study found that intravenous high dose calcium infusions followed by high dose oral calcium effectively treated vitamin D dependent rickets type II, leading to complete biochemical and radiological healing and improved growth in two patients.
35 citations
,
August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
26 citations
,
June 2004 in “Clinical Genetics” This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
23 citations
,
April 1993 in “Gastroenterology” This study reported a case where cyclosporine treatment in a child led to remission of ulcerative colitis and regrowth of scalp and body hair, suggesting a possible connection between the disorders.
22 citations
,
January 2014 in “Indian Journal of Endocrinology and Metabolism” This study found that metabolic syndrome or related metabolic issues are common among the family members of women with polycystic ovary syndrome.
19 citations
,
April 1995 in “Clinical Genetics” This report describes two siblings with a new familial association of loose anagen syndrome and ocular coloboma, despite unaffected parents and no family history.
18 citations
,
February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
17 citations
,
January 1993 in “Dermatology” This report describes two cases of chronic arsenicism, one involving criminal poisoning by a sibling and the other associated with prolonged use of Fowler's solution.
15 citations
,
April 1970 in “PubMed” This letter describes a case of a 22-year-old woman with ichthyosis serpentina and related symptoms, suggesting it as a variant form of ichthyosis associated with bamboo hair, without necessarily including atopic features.