9 citations
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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.
January 2016 in “e-Oftalmo CBO Revista Digital de Oftalmologia” This review discusses central serous chorioretinopathy, detailing its etiology, associated factors, diagnostic imaging, and therapeutic options, but provides no new clinical findings.
2 citations
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September 2021 in “JCPSP. Journal of the College of Physicians & Surgeons Pakistan” In this study, researchers observed that while there were no significant microvascular abnormalities in the macula of PCOS patients, the parafoveal thickness was significantly increased in most quadrants.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
20 citations
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October 2001 in “British Journal of Ophthalmology” This case report suggests that intralesional cidofovir may be a consideration for treating squamous cell carcinoma, as it showed a successful outcome without systemic toxicity, although surgical excision remains preferred.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
84 citations
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June 1970 in “Journal of Investigative Dermatology” 15 citations
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November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
1 citations
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October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
6 citations
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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.
22 citations
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August 2015 in “Cochrane Database of Systematic Reviews” The study aims to find the best treatment for central serous chorioretinopathy by comparing various options.
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.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
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.
2 citations
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March 2017 in “Sultan Qaboos University medical journal” This case report describes a six-month-old infant with focal scalp hair heterochromia and no detectable underlying abnormalities, which was still present at a one-year follow-up.
October 2019 in “European Journal of Dermatology” This review discusses the diagnosis and treatment of pityriasis rubra pilaris and reports no new clinical results.
June 2022 in “Indian journal of clinical and experimental opthalmology” This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.
3 citations
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March 2022 in “Medicine” This case report described a patient with unilateral branch retinal artery occlusion due to previously undiagnosed systemic lupus erythematosus, where systemic immunotherapy led to significant visual improvement and resolution of macular edema.
March 2023 in “Pediatrics & neonatology” This case study reported a successful surgical excision of two cephalocele lesions in a female neonate, resulting in uneventful recovery and appropriate neurodevelopment during a seven-month follow-up.
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.
January 2024 in “SAGE Open Medical Case Reports” In this study, exome sequencing revealed that two brothers with ichthyosis, born to consanguineous parents, had NIPAL4 autosomal recessive congenital ichthyosis, while the older brother's blindness resulted from separate mutations in the peroxidasin gene, which were also found in an unaffected sister.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” This case report of an infant with AEC syndrome highlights the importance of early and aggressive management of ocular complications to preserve vision and reduce the risk of amblyopia.
This case report describes retinal occlusion and medial canthal swelling in a 64-year-old female following the injection of acellular porcine urinary bladder matrix for hair restoration, a previously unreported side effect.
18 citations
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December 2006 in “Clinical dysmorphology” This article reviews the case of a 2-year-old boy with rhombencephalosynapsis and considers its potential links to Gomez–López-Hernández syndrome, suggesting further research into its genetic causes; no new clinical results are reported.
13 citations
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October 2001 in “British Journal of Ophthalmology” This report discusses the use of intralesional cidofovir and suggests it might be a viable option for treating SCC due to its successful outcome without observed systemic toxicity in this case.
2 citations
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June 2019 in “The Journal of Dermatology” This report describes two cases of aplasia cutis congenita with hair collar signs and hemangioma, which may suggest neural tube defects, although imaging showed no bone or neural tissue abnormalities.
January 2026 in “Indian Journal of Ophthalmology - Case Reports” In this study, a rare case of a trichilemmal cyst in a 6-year-old's upper eyelid was observed; it was identified through histopathological examination after excision, highlighting the importance of considering trichilemmal cysts in atypical pediatric eyelid swellings.
23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.