5 citations
,
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.
1 citations
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July 2025 in “Journal of Human Immunity” This study found that administering minoxidil and PGE2 to pregnant mice with 22q11.2 deletion syndrome models corrected multiple developmental anomalies, including thymus growth and parathyroid positioning, by targeting prenatal mesenchymal differentiation.
101 citations
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March 2019 in “Cell Stem Cell” This study found that Oncostatin M, via JAK-STAT5 signaling, keeps hair follicle stem cells inactive, and its removal leads to hair growth initiation in mice.
32 citations
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November 2011 in “Reproductive Sciences” The study found that among young Brazilian women, the likelihood of metabolic syndrome in those with PCOS is strongly associated with BMI and the phenotype involving menstrual irregularity and hyperandrogenism.
1 citations
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July 2016 in “PubMed” In this study, once-daily 5% minoxidil foam and twice-daily 2% minoxidil solution both promoted hair regrowth in women with female pattern hair loss, but noninferiority of the foam was not established.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
2 citations
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June 2016 in “PubMed” This case study reports successful treatment of an 11-year-old girl's trichotillomania with cognitive behavioral therapy, mild topical treatments, and supportive parental involvement, without psychopharmacologic intervention.
March 2026 in “Journal of Skin and Stem Cell” In this study, lower serum adiponectin levels and altered lipid profiles were observed in patients with periorbital melanosis, suggesting an association with metabolic syndrome.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
September 2021 in “Pediatrics in review” This case report describes a 2-year-old girl with Majocchi granuloma, a deep granulomatous folliculitis, which improved after treatment with oral terbinafine despite relapses leading to multiple treatment courses.
January 2017 in “mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich)” In this study, women with PCOS who had children reported shorter menstrual cycles and more regular daily routines compared to childless women, who experienced less hirsutism and weight gain.
1 citations
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October 2015 in “Actas Dermo-Sifiliográficas”
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
20 citations
,
February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” This case report describes a 6-year-old girl diagnosed with monilethrix despite no familial history and treated with a topical minoxidil trial.
23 citations
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September 2009 in “Child Abuse & Neglect” This case report highlights the importance of considering hair-thread tourniquet syndrome as a potential diagnosis for girls with genital swelling and pain, emphasizing the need for prompt intervention.
39 citations
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January 1998 in “Dermatology” The authors concluded that milia, steatocystoma multiplex, and eruptive vellus hair cysts may be subtypes of multiple pilosebaceous cysts with overlapping histologic features.
26 citations
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December 2003 in “Experimental Dermatology” In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.
May 2023 in “International journal of science and research” This case report describes two boys aged 8 and 10 with loose anagen hair syndrome who experienced successful hair regrowth using topical minoxidil 2% solution, suggesting it may be an effective initial treatment option for severe cases of this condition.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that TET2 plays a tumor-suppressive role in preventing squamous cell carcinomas by regulating 5-hydroxymethylcytosine levels, suggesting therapeutic potential for DNA methylation dynamics.
22 citations
,
August 1999 in “Mechanisms of Development” This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.
In this study assessing post-menopausal Asian women, distinct shifts in Malassezia species prevalence on the skin were linked to increased inflammation and impaired skin barrier function, potentially driving disorders like psoriasis and seborrheic dermatitis.
January 2007 in “프로그램북(구 초록집)” 5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
10 citations
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January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
1 citations
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April 2022 in “Applied sciences” This study reports the development of a microemulsion using Momordica charantia extract, which demonstrated strong antioxidant and 5α-reductase inhibitory activity, potentially aiding hair loss management. The microemulsion was stable over 12 weeks, suggesting its future potential for cosmetic or pharmacological applications.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
2 citations
,
September 2022 in “Annals of Oncology” This study observed that MIRV improved gastrointestinal symptoms and other quality of life measures in patients with platinum-resistant ovarian cancer compared to chemotherapy.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
13 citations
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October 2003 in “Clinical pediatrics” In this case report, a 14-year-old boy with Satoyoshi syndrome did not improve with intravenous immunoglobulin but responded dramatically to steroid treatment.