1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
1 citations
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July 2022 in “Journal of Cataract and Refractive Surgery” This meta-analysis reports that male sex, hypertension, tamsulosin, finasteride, benzodiazepines, and antipsychotics are significantly associated with increased risk of developing intraoperative floppy-iris syndrome during cataract surgery.
1 citations
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March 2024 in “Ophthalmic Plastic and Reconstructive Surgery” In this case study, a 34-year-old woman with a rare presentation of pilomatrixoma involving alopecia and skin hypopigmentation showed no improvement in these symptoms despite a 3-month trial of topical steroid treatment, highlighting a potential association between pilomatrixoma and microinflammation.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, early prenatal treatment with Minoxidil, a lysyl hydroxylase inhibitor, partly improved cardiac outflow tract septation in Tbx1 mutant mice, suggesting that inhibiting collagen cross-linking may mitigate some effects of Tbx1 mutation associated with DiGeorge syndrome.
January 2022 in “Indian journal of paediatric dermatology” This case report details an unusual instance of multiple eruptive milia in an otherwise healthy 3-month-old baby, characterized by widespread distribution and believed to be idiopathic due to the absence of associated genodermatoses.
November 2017 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study found an IFIS incidence rate of 3.18% among cataract surgeries in a Chinese hospital and identified reserpine, clozapine, and post-panretinal photocoagulation as new risk factors.
May 2025 in “BMJ Case Reports” In this case report, a young man's vision problems, including blurred vision and difficulty with color perception, were suspected to be an adverse reaction to oral and topical minoxidil used for alopecia; his symptoms resolved after discontinuing the medication.
4 citations
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December 2014 in “Indian Journal of Dermatology” This case report documents a rare presentation of congenital milia en plaque on the scalp of a five-year-old boy, with blaschkoid extension to the nuchal area, highlighting its uncommon location and onset.
1 citations
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January 2018 in “Indian dermatology online journal” This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.
16 citations
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March 2011 in “Ophthalmic genetics” This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
1 citations
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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.
August 2022 in “Case reports in medicine” This case report describes a 19-year-old female with systemic lupus erythematosus who exhibited eyelash trichomegaly, a rare disorder involving changes in eyelash characteristics, alongside diffuse alopecia.
July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” In this report, a newborn female with bilateral symmetrical alopecia lesions was diagnosed with congenital triangular alopecia, an unusual presentation, highlighting the disorder's benign nature and the importance of early recognition and conservative management.
June 2025 in “British Journal of Dermatology” This study investigated premature greying and found lower levels of vitamin D and vitamin B12 in affected individuals compared to controls, associating micronutrient deficiencies with altered hair pigmentation, though no significant link between micronutrient deficiencies and inflammatory markers was observed.
20 citations
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February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” This case report describes a 6-year-old girl diagnosed with monilethrix despite no familial history and treated with a topical minoxidil trial.
29 citations
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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.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
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.
August 2024 in “Clinical Case Reports” This case study reports on a rare benign skin tumor known as Pilomatricoma in the lower left orbital region of a 32-year-old male, highlighting its characteristic histopathological features and emphasizing the importance of surgical excision for successful treatment and minimal recurrence risk.
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.
15 citations
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August 2002 in “British Journal of Ophthalmology” This paper discusses a case where intralesional cidofovir successfully treated squamous cell carcinoma without systemic toxicity, but surgical excision remains the standard for curative treatment and margin evaluation.
15 citations
,
March 2009 in “Pediatric dermatology” This case report documents a novel occurrence of bilateral trichomegaly with alopecia areata in a healthy 3-year-old girl, without known underlying health conditions or medication use.
21 citations
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April 2004 in “Australasian Journal of Dermatology” This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.
January 2007 in “Revista del Centro Dermatológico Pascua” This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.
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.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, primary cilia were found to contribute to meibomian gland enlargement and lipid production, though they are not necessary for normal gland development.
1 citations
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March 2013 in “British Journal of Dermatology” This correspondence discusses eyebrow alopecia in the context of centrofacial trichoblastomatosis and reports no new clinical findings.
1 citations
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January 2024 in “Journal of the Egyptian Womenʼs Dermatologic Society” This study found that ocular comorbidities, particularly errors of refraction, are common in patients with Alopecia Areata, but dermoscopic findings are not predictive of these ocular issues.