3 citations
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May 2015 in “Journal of The American Academy of Dermatology” Adalimumab significantly improves quality of life for patients with moderate to severe hidradenitis suppurativa.
January 2016 in “프로그램북(구 초록집)” This study found that the revised BASP classification for pattern hair loss, which addresses certain limitations of the original, could serve as an alternative option despite a decrease in clinical accuracy and ease of use.
1 citations
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September 2016 in “Hair transplant forum international” This article proposes enhancing the Norwood-Hamilton scale for assessing hair loss patterns but reports no new clinical results.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of recognizing non-classic congenital adrenal hyperplasia as a cause of hyperandrogenism and the need for genetic counseling given potential familial implications.
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.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.
September 2023 in “Journal of the American Academy of Dermatology” In this study, no significant differences in hidradenitis suppurativa severity or testosterone levels were found between women with and without polycystic ovary syndrome, suggesting PCOS does not predict poor prognosis in HS patients.
8 citations
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September 2004 in “Contact dermatitis” Avoiding dyed wigs and clothing improved severe allergic reactions in a woman treated with diphencyprone.
30 citations
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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.
6 citations
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May 2021 in “Stem Cell Reviews and Reports” This study identified and characterized progenitor cells from equine feet that may play a role in the pathogenesis and recovery of laminitis, suggesting potential therapeutic targets for treatment.
2 citations
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January 2009 in “Human cell culture” 74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
3 citations
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November 2021 in “Skin Appendage Disorders” This study found that home-use diphenylcyclopropenone (H-DPCP) is a cost-effective alternative to office-use for severe alopecia areata, showing similar effectiveness with reduced costs.
6 citations
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December 2021 in “Scientific Reports” This study found that inhibiting class I histone deacetylases in postnatal mouse dermal cells preserved their ability to induce hair follicles during culture by increasing specific gene expressions and activating the Wnt signaling pathway.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
February 2020 in “Open Access Macedonian Journal of Medical Sciences” In this case report, treatment with corticosteroids improved both clinical symptoms and hormonal imbalances in a 27-year-old woman diagnosed with non-classic congenital adrenal hyperplasia.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Hutchinson-Gilford Progeria Syndrome, its symptomatology, and the progress in developing treatment strategies, emphasizing that while a cure remains elusive, advances in understanding the disease's molecular mechanisms show promise for future approaches.
4 citations
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May 2020 in “Journal of the American Academy of Dermatology” This study found that hidradenitis suppurativa encounters most commonly occur with family or internal medicine providers, with frequent opiate prescriptions and low use of nonantibiotic systemic treatments.
4 citations
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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.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
7 citations
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May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
216 citations
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November 1999 in “Fertility and Sterility” This study found that a basal 17-hydroxyprogesterone level is effective for screening nonclassic adrenal hyperplasia in women, with a 4 ng/mL cutoff providing high specificity and positive predictive value.
62 citations
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March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
30 citations
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January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
2 citations
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June 2012 in “Journal of Dermatological Science” This study found that histidine decarboxylase is crucial for the hair-inducing ability of newborn mouse dermal cells, with its expression significantly decreasing in the first few days after birth.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.