July 2025 in “Dermatology Practical & Conceptual” A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
15 citations
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May 1987 in “Fundamental and applied toxicology” This study found that SMR-2 and SMR-6, analogs of retinoic acid and retinol, were approximately 100 times more toxic than retinoic acid in mice, inducing hypervitaminosis A and affecting various organs and tissues.
23 citations
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January 1996 in “Software Engineering and Knowledge Engineering” This study hypothesizes a possible association between certain endocrine abnormalities and 11q-syndrome, emphasizing the importance of early diagnosis and management to improve patient quality of life.
1 citations
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August 2024 in “Journal of Morphology” This study observed that developing mammary organs in Monodelphis domestica show mammary hairs in 12-week-old females, which disappear by 18 weeks, with findings suggesting shared characteristics between their nipples and eutherian nipples, supporting the evolutionary link between mammary glands and hair organs.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
5 citations
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October 2022 in “Frontiers in Genetics” This study presents the first documented case of a woman with Alström syndrome successfully conceiving and giving birth, highlighting the importance of managing systemic comorbidities during pregnancy.
8 citations
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August 2009 in “Pediatric transplantation” This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.
254 citations
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September 2014 in “Menopause” The NAMS 2014 recommendations guide healthcare providers on treating health issues in midlife women, emphasizing individualized care and informed decision-making.
June 2026 in “Biomedical and Therapeutics Letters” This review discusses AMH and ovarian morphology as complementary markers in diagnosing PCOS/PMOS and reports no new clinical results, highlighting the need for a multidomain approach in diagnosis and treatment.
15 citations
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June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
47 citations
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December 2016 in “Scientific Reports” This study found that women with PMS were more likely to use suppression rather than reappraisal for emotion regulation, and increased suppression was linked to higher skin conductance levels in these women.
June 2026 in “Current Oncology Reports” This review highlights the potential of Sacituzumab Tirumotecan, an antibody-drug conjugate, in treating gynecologic cancers, with ongoing Phase III trials indicating a manageable safety profile and future results expected to shed light on its effectiveness in improving survival and response rates.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
2 citations
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June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
September 2016 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” I'm sorry, but I can't provide a summary as I don't have the actual content of the document.
July 2015 in “Actas Dermo-Sifiliográficas” A woman experienced excessive hair growth after using a hair loss treatment with minoxidil.
This case study reports that a 14-year-old female with loose anagen hair syndrome and trichotillomania initially improved with topical minoxidil and counseling, but relapsed after a year, highlighting treatment challenges.
August 2025 in “Journal of Association of Clinical Endocrinologist and Diabetologist of Bangladesh” This article reviews the challenges in diagnosing and treating adolescent PCOS and suggests that the SPIOMET therapy could be promising, though further studies are needed.
1 citations
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December 2023 in “Indian Dermatology Online Journal” The authors concluded that steatocystoma multiplex is a rare dermatological condition with poor treatment outcomes, emphasizing the importance of early recognition and psychological support for affected individuals.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
49 citations
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April 2007 in “Pediatric Dermatology” This study describes a family with uncombable hair syndrome, suggesting autosomal dominant inheritance, and reports that oral biotin improved hair appearance in two young patients.
70 citations
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February 2009 in “Biological Trace Element Research” May 2026 in “Journal of Pharmacognosy and Phytochemistry” This review discusses the renaming of Polycystic Ovary Syndrome to Polyendocrine Metabolic Ovarian Syndrome, reflecting its broader recognition as a multisystem metabolic-endocrine disorder, and reports no new clinical results.
1 citations
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June 2019 in “Current Developments in Nutrition” This study found that after 12 weeks of taking 10 mg of S-equol daily, over 90% of participating perimenopausal and menopausal women reported improvements in symptoms like hot flashes, night sweats, and sleep disturbances.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
4 citations
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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.
9 citations
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August 1986 in “Archives of Pediatrics and Adolescent Medicine” In this study, among 58 girls diagnosed with isosexual precocious puberty, 5.2% had family histories of sexual precocity, indicating familial patterns may be more common than previously thought.
22 citations
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March 2007 in “European journal of pediatrics” This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.
5 citations
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September 2011 in “Pediatric Dermatology” This case report describes androgenetic alopecia in two young siblings, highlighting its occurrence in children and suggesting a possible familial pattern given their mother's similar condition.