4 citations
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
5 citations
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November 2020 in “EBioMedicine” This study reports a novel diagnostic method for latent circadian rhythm sleep-wake disorder using circadian gene oscillations from hair follicle cells to improve sleep disorder differentiation and potential therapeutic intervention.
October 2025 in “Clinical Case Reports” This case report challenges the traditional view by documenting reversible vision loss following scalp injections of platelet-rich plasma, attributed to an inflammatory or microvascular event, treatable with corticosteroids.
11 citations
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February 2004 in “Clinical and Experimental Ophthalmology” In this case report, the authors suggest an association between prolonged finasteride use and anterior subcapsular cataracts, as observed in a 43-year-old man, marking the first reported instance.
May 2025 in “The Journal of Rheumatology” In this case report, a 64-year-old woman diagnosed with both NMOSD and SLE showed mild improvement in vision and recovered from thrombocytopenia after treatment with glucocorticoids and Rituximab, highlighting the importance of accurate diagnosis and tailored treatment for overlapping autoimmune disorders.
August 2009 in “Mechanisms of Development”
52 citations
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January 2001 in “Eye” This review discusses challenges in treating CMO associated with uveitis and highlights the need for prospective studies to guide therapy, as current treatments are largely empirical and potentially harmful.
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
5 citations
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August 2011 in “Dermatologic Surgery” Artificial dermis used for hair transplantation can reconstruct scalp defects effectively without the need for tissue expansion.
December 2015 in “Vascular Pharmacology” Hair papilla cells are crucial for blood vessel development in hair follicles, affecting hair growth and loss.
September 2009 in “European Urology Supplements” This study found that a 3 mm margin around the prostate CTV may be adequate if accompanied by frequent imaging, but superior-inferior displacements were notably greater than in other directions.
September 2009 in “European Urology Supplements” Surgery for high-risk prostate cancer is challenging but doesn't lead to more complications, and additional treatment is often needed.
September 2024 in “Pigment Cell & Melanoma Research” This study found that mitochondrial fusion regulator Opa1 is crucial for maintaining melanocyte stem cells during the hair follicle cycle in mice, with Opa1 deficiency leading to impaired SCF-KIT signaling, reduced melanocyte populations, and early hair graying.
October 1940 in “Clinical and Experimental Optometry” In this study, adult albino rats on a vitamin A deficient diet developed ocular symptoms like xerophthalmia and photophobia within four weeks, without showing loss of dark adaptation.
1 citations
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January 2020 in “Skin appendage disorders” This case study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.
478 citations
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September 1996 in “Proceedings of the National Academy of Sciences” This study found that overexpression of PTHrP in mice chondrocytes led to short-limbed dwarfism and delays in endochondral ossification, highlighting PTHrP's role in inhibiting chondrocyte differentiation.
January 2016 in “International journal of basic and clinical pharmacology” This case report describes the development of central serous retinopathy after prescribing a low dose of prednisolone for androgenic alopecia, which resolved after gradual steroid withdrawal.
25 citations
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December 2008 in “Journal of Dermatological Case Reports” In this study, R-CSLM showed promise in evaluating hair shaft diseases by providing high-quality images of hair structures, although further development is necessary for follicle and perifollicular area analysis.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
23 citations
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February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
10 citations
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November 2019 in “Journal of the European Academy of Dermatology and Venereology” This study observed distinct differences in hair characteristics between individuals with cardio-facio-cutaneous syndrome and Costello syndrome, highlighting the role of the RAS pathway in these RASopathies and aiding clinical diagnosis.
January 2026 in “Forum Dermatologicum” This case study examined a 72-year-old woman with unique hair shaft constrictions consistent with monilethrix, despite features atypical for this condition, ultimately reaching a diagnosis that led to successful improvement using oral minoxidil and reduced hair trauma.
16 citations
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January 2019 in “Aging” This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.
January 2023 in “TNOA journal of ophthalmic science and research” In this case report, a young male developed acute central serous chorioretinopathy after using 5% topical minoxidil for androgenic alopecia, which resolved after discontinuation of the drug and focal laser treatment.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” The authors reviewed cases of six children with both hair-shaft abnormalities and neurological disorders, noting that such hair defects may indicate neurological conditions, including potentially treatable metabolic errors.
February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
July 2024 in “Dermatology Practical & Conceptual” This article discusses the diagnostic challenges between certain neonatal scalp conditions and highlights the potential of line-field confocal optical coherence tomography to provide detailed, non-invasive skin examination, without presenting new clinical findings.