7 citations
,
August 2008 in “Cases Journal” This article reports a case of a 14-month-old child with a constriction ring syndrome caused by tightly wrapped hair, highlighting the importance of early recognition and treatment to prevent serious complications.
30 citations
,
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.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
April 2023 in “Journal of clinical and translational science”
July 2024 in “JAAD Case Reports” This study reports two cases of central serous chorioretinopathy developing after intralesional corticosteroid injections to the scalp for alopecia areata, suggesting a potential association that warrants cautious use and monitoring for ocular complications.
September 2024 in “Dermatology Reports” In this study, 45 patients with advanced basal cell carcinoma treated with the medication sonidegib experienced a 24% incidence of alopecia, with detailed trichoscopic and LC-OCT examination revealing specific hair changes, suggesting LC-OCT might help identify early signs of alopecia from sonidegib use.
27 citations
,
April 2011 in “Folia Histochemica et Cytobiologica” In this study using rats, finasteride-induced DHT deficiency led to morphological changes in seminiferous tubules, linked with altered junctional protein expression, potentially impairing fertility.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.
67 citations
,
September 2001 in “American Journal Of Pathology” This study found that overexpression of the enzyme ornithine decarboxylase in transgenic mice led to UVB-induced skin tumors, but this was prevented by the ODC inhibitor α-difluoromethylornithine.
3 citations
,
January 2008 in “Drug Safety” 31 citations
,
April 2005 in “American journal of ophthalmology” This case report identified lash ptosis as a potential complication of latanoprost therapy in a 61-year-old man with ocular hypertension.
29 citations
,
May 2011 in “Journal of Cataract and Refractive Surgery” This case report suggests a possible association between long-term finasteride use for male pattern baldness and the development of cataracts and intraoperative floppy-iris syndrome in a patient.
4 citations
,
February 2022 in “International Journal of Molecular Sciences” This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
5 citations
,
December 2018 in “Frontiers in Endocrinology” This study found that nuclear androgen receptor expression was enhanced by dihydrotestosterone in rat gubernacular mesenchyme, but this did not affect muscle morphology or matrix composition during fetal development.
This case report suggests that Minoxidil may be a potential cause of central serous chorioretinopathy in a 39-year-old cardiologist using it for androgenic alopecia.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
January 2025 in “Open Life Sciences” This study observed that transgenic mice with overexpression of HE4 developed keratitis and severe corneal opacity, suggesting that HE4 may significantly influence keratopathy and inflammatory responses in the eye.
3 citations
,
February 1996 in “Dermatologic Surgery” This article argues against the widespread use of isolated frontal forelock hair transplantation for most patients, suggesting more extensive coverage is often a reasonable option.
88 citations
,
August 1998 in “Carcinogenesis” This study found that overexpression of ornithine decarboxylase and activated Ha-ras together led to a high rate of tumor development in a mouse model without additional carcinogens.
13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
1 citations
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April 2025 in “Clinical Cosmetic and Investigational Dermatology” This report describes a rare case of porokeratotic eccrine ostial and dermal duct nevus in a 64-year-old woman, successfully treated with CO₂ laser, highlighting its potential occurrence in older adults.
3 citations
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January 2021 in “Veterinary dermatology” This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.
January 2025 in “Journal of Imaging Informatics in Medicine” 8 citations
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August 2018 in “Journal of Investigative Dermatology” 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.
January 2023 in “Malaysian Journal of Medical Research” This case report describes a 7-year-old girl whose allergic conjunctivitis went underdiagnosed and undertreated, resulting in poor prognosis due to the challenges associated with her young age and inability to verbally communicate symptoms.
October 2024 in “Frontiers in Oncology” This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.
September 2025 in “Cureus” In this case study, a 24-year-old female with Parry-Romberg syndrome showed significant craniofacial asymmetry, delayed dental development, and other symptoms without neurological deficits; orthodontic treatment is used to improve occlusion and facial balance.