1 citations
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April 2024 in “Journal of Clinical Medicine” This study found that patients with severe alopecia areata demonstrated reduced corneal sensitivity and increased corneal staining, and exhibited altered topographic and biomechanical eye parameters compared to controls, suggesting a possible increased risk of keratoconus and the necessity for regular ophthalmological exams.
May 2013 in “Optometry and vision science” This abstract provides summaries of multiple clinical reports on topics like macular holes with posterior uveal melanoma, hemolacria, trichotillomania management with bimatoprost, Demodex identification methods, and psychological factors in contact lens discomfort, but reports no new research findings.
6 citations
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July 2011 in “British Journal of Dermatology” This paper reports a case of sebaceous carcinoma developing at the site of chronic candidiasis in a patient with keratitis–ichthyosis–deafness syndrome, without presenting new generalizable findings.
10 citations
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January 1995 in “Dermatology” This case study suggests that early or significant alopecia in young adults may warrant investigation for underlying congenital conditions like trichorhinophalangeal syndrome.
23 citations
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September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This case report describes successful CO2 ablation treatment of porokeratotic adnexal ostial nevus in an 8-year-old boy, with marked improvement over a 12-year follow-up.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
December 2023 in “International journal of ophthalmology” This study found that minimally invasive combined fascia sheath suspension improved eyelid symmetry in patients with unilateral ptosis, particularly in measures of marginal reflex distance and eyelid contour.
71 citations
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May 1996 in “Journal of Investigative Dermatology” This study found that overexpression of a mutated ornithine decarboxylase transgene in mice led to complete hair loss, which could be prevented or reversed with an ODC inhibitor.
28 citations
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July 1980 in “British Journal of Dermatology” This study describes a case of generalized trichorrhexis nodosa and finds that defects in alpha-keratin chain formation and low cystine levels in hair may contribute to the condition.
October 2024 in “Journal of the Endocrine Society” This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.
January 2024 in “Skin Appendage Disorders” This article discusses ciliary madarosis as a transient condition secondary to IAC, emphasizing the value of physical and trichoscopic evaluations for diagnosis and prognosis; it does not report new clinical results.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that knocking out the Hars2 gene in mouse cochlear hair cells led to mitochondrial dysfunction and ROS stress, resulting in progressive hearing loss and differential effects on inner and outer hair cells.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
6 citations
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May 2000 in “Pediatric Dermatology” This article discusses a case study supporting the reclassification of KID syndrome as an ectodermal dysplasia, introducing a potential treatment combination that may alleviate symptoms in affected patients.
January 2018 in “Investigative Ophthalmology & Visual Science” This study observed retinal and optic nerve damage in patients who had taken finasteride, suggesting potential ocular toxicity associated with the drug's use.
2 citations
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December 2021 This study found that the observed isotropic ss-ECD spectrum of finasteride is influenced by the anisotropy of locally oriented crystals, offering new possibilities for analyzing solid-state chiral materials.
19 citations
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May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
18 citations
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September 1994 in “Clinical and Experimental Dermatology” This article describes a case of localized trichorrhexis nodosa in a patient with otherwise normal hair, highlighting the condition's response to trauma and diagnostic process but reporting no new clinical findings.
July 2023 in “Clinical, cosmetic and investigational dermatology” In this study, reflectance confocal microscopy was used to diagnose periorificial dermatitis, revealing specific skin changes such as hair follicle dilatation, increased vascular density, and inflammation, which help distinguish it from similar conditions.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
29 citations
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January 2020 in “Frontiers in endocrinology” This paper considers fibrodysplasia ossificans progressiva as a segmental progeroid syndrome, which may help uncover mechanisms of normal aging and suggest targets for new treatments.
5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
May 2024 in “Clinical and experimental optometry” This case report describes a rare side effect of finasteride in a young male being treated for androgenic alopecia.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This case report describes a five-year-old boy diagnosed with nevus comedonicus syndrome, a rare skin condition, characterized by asymptomatic skin lesions and a congenital cataract of the right eye, without inflammation or typical signs of related conditions.
5 citations
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February 2018 in “Military medicine” This case study reports a U.S. Naval fighter pilot with recurrent central serous retinopathy who became the first to receive a waiver for unrestricted flight despite permanent defective visual acuity.
84 citations
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June 1970 in “Journal of Investigative Dermatology”
1 citations
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December 2019 in “Acta Medica Medianae” This article discusses connubial contact dermatitis, emphasizing its frequent misrecognition and the importance of identifying and eliminating the underlying causes for effective treatment.
3 citations
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August 2018 in “Therapeutics and Clinical Risk Management” This case report discusses a young woman who developed bilateral osteonecrosis of the femoral head after corticosteroid treatment for alopecia areata, underscoring the risk of this complication in patients undergoing such therapy.
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.
7 citations
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July 1975 in “Acta dermato-venereologica” This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.