19 citations
,
April 1995 in “Clinical Genetics” This report describes two siblings with a new familial association of loose anagen syndrome and ocular coloboma, despite unaffected parents and no family history.
9 citations
,
August 2002 in “British journal of ophthalmology” This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” This report details the clinical presentation of an 18-year-old female with Kallmann syndrome, noting her ocular issues and differences in sexual development. The researchers treated her eye conditions cosmetically with superficial keratectomy and amniotic membrane graft, followed by corneal tattooing and strabismus correction.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
4 citations
,
September 2013 in “Journal of Plastic Surgery and Hand Surgery” This study details the successfully treated case of a 16-year-old girl with congenital alopecia due to encephalocraniocutaneous lipomatosis, resulting in high patient satisfaction after hair restoration.
November 2025 in “Journal of Clinical Medicine” This review article explores the potential systemic nature of alopecia areata, highlighting the association with ocular abnormalities and suggesting that shared pathogenic pathways may lead to eye symptoms occurring at younger ages than usual.
August 2018 in “Journal of The American Academy of Dermatology” Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report describes a 68-year-old woman with metastatic breast cancer who experienced significant improvement in visual acuity after stopping tamoxifen, which was associated with bilateral optic neuropathies.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This paper presents two cases of rare intraorbital ophthalmic artery aneurysms associated with arteriovenous malformations and discusses their clinical presentation, pathogenesis, and management, but reports no new clinical outcomes.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This report describes the clinical and histopathological features of lipoid proteinosis in a brother and sister with lid lesions, highlighting the importance of recognizing such lesions for diagnosis.
11 citations
,
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.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This report documents the second known case of Castleman's disease in the lacrimal gland, diagnosed in an 84-year-old woman through histological examination after excising a left upper lid mass.
7 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report details a 65-year-old woman who developed malignant melanoma in her right eye socket following previous eye trauma, treated by orbital exenteration.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
5 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This study presents two cases correlating the clinical appearance of adult-onset foveomacular vitelliform dystrophy with optical coherence tomography findings, describing the location of the yellow vitelliform material.
1 citations
,
December 2019 in “American journal of ophthalmology. Case reports” This case report describes an unusual occurrence of late-onset nevus comedonicus affecting both eyelids, with complications including bilateral ptosis and ectropion.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
7 citations
,
July 2011 in “Survey of Ophthalmology” This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.
2 citations
,
March 2021 in “Pakistan veterinary journal” This study found that injecting hyaluronic acid fillers using a layered feathering technique temporarily corrected entropion and relieved associated symptoms in two dogs, an Old English Bulldog and a Chow Chow, maintaining eyelid positions for 6-8 months.
25 citations
,
October 1996 in “Dermatologic Clinics” This article discusses loose anagen syndrome, highlighting its characteristics, diagnostic methods, and spontaneous improvement over time, but provides no new clinical results.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
72 citations
,
January 2011 in “Current Pharmaceutical Design” This review discusses the potential role of steroid 5α-reductase inhibitors in treating neuropsychiatric disorders related to dopaminergic hyperreactivity but reports no new clinical results.
61 citations
,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This review discusses the causes, clinical presentation, and management of anagen effluvium, emphasizing its psychological impact and the need for empathy and practical support, but reports no new results.
46 citations
,
October 2009 in “Archives of Dermatology” This study found that loose anagen hair syndrome is a common form of alopecia in young girls, typically presenting with thin, sparse hair and usually confirmed by a hair-pull test.
40 citations
,
January 2010 in “International Journal of Trichology” This review discusses the diagnostic criteria and guidelines for managing loose anagen syndrome and differentiating it from non-scarring alopecias, but it reports no new clinical results.
31 citations
,
December 2010 in “Journal of the American Academy of Dermatology” This study reports that structural abnormalities in the inner root sheath of hair follicles may cause the hair shaft to be loosely attached in patients with loose anagen hair syndrome.
21 citations
,
January 2020 in “General and Comparative Endocrinology” This review examines the diverse roles of SRD5α enzymes across species, focusing on their involvement in steroid synthesis, sexual development, and various physiological processes, but reports no new clinical results.
8 citations
,
August 2013 in “Pediatric Dermatology” This article reviews loose anagen hair syndrome, an inheritable hair disorder affecting children and sometimes adults, but does not report any new clinical results.
7 citations
,
November 2000 in “Clinics in Dermatology” In this study, pediatric patients with overt polyautoimmunity frequently had systemic lupus erythematosus as an index disease, with clustering patterns revealing familial influence on autoimmune disease aggregation.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.