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 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 21-year-old Black South African man with clinical features of ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome is described. The patient had the following anomalies: hypoplastic, peg-shaped teeth; fine, silky hair; absent lacrimal puncta resulting in secondary photophobia, blepharitis and corneal opacities. The hands and feet showed absent digits, symphalangism and displacement of bone consistent with ectrodactyly. In addition, the patient had extensive comedone naevus, a feature not previously reported in EEC syndrome. We stress that the dysplastic ectodermal features of EEC syndrome are not typical of either hidrotic or anhidrotic ectodermal dysplasia but fall into a class of their own. Clefting of the lip and palate were absent due, it is postulated, to the variable expressivity of EEC syndrome.
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PMID:A newly recognized feature of ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome: comedone naevus. 647 16

The variety of lesions that can cause alopecia of the eyelashes (Table 1) demonstrates the need for accurate diagnosis. A full-thickness biopsy of lid margin with appropriate three-suture closure can leave an imperceptible defect and may provide invaluable information. Although a partial-thickness lid biopsy is certainly appropriate for many common eyelid tumors such as basal-cell carcinomas or nevi, we feel strongly that a full-thickness lid biopsy is indicated when discussing chronic eyelid lesions that cause alopecia. The information gathered from a full-thickness biopsy is far superior especially in those lesions which cause chronic blepharitis or especially in a case of a recurrent chalazion where the conjunctival surface and skin surface are both equally significant. The high mortality associated with sebaceous-cell carcinomas makes a good pathologic specimen allowing for accurate diagnosis essential. Partial-thickness eyelid biopsies, especially in cases of sebaceous carcinoma, may lead the pathologist to an erroneous, more benign, diagnosis and the clinician to a false sense of security. While many of the nonscarring alopecias may be diagnosed on their clinical characteristics alone, the scarring alopecias will frequently need a lid biopsy to ascertain diagnosis and gauge treatment.
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PMID:Ophthalmologic oncology: alopecia of the eyelashes. 669 56

Frozen section diagnosis is extensively used in various branches of pathology, but its application in ophthalmic pathology was recognised only in the 1970s. We studied 10 sections of ocular and adenexal lesions by frozen section diagnosis, which included orbital lesions (4 cases), lid lesions (3 cases), and intraocular tissue (1 case). The time taken for processing ranged between 10 to 15 minutes. Diagnoses based on frozen section evaluation included lymphoma, mesenchymal chondrosarcoma, solar keratosis, compound naevus, silicone oil globules in cataractous lens, neurofibromatosis, pseudotumour, retinoblastoma, and chronic blepharitis. Although further histopathologic examination correlated well with the frozen section (100%) observations, the diagnosis was deferred in the case of naevus and reactive lymphoid hyperplasia. Our study shows that frozen section diagnosis in ophthalmic surgery is quite reliable and is particularly useful in ocular adenexal lesions.
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PMID:Frozen section diagnosis in ophthalmic pathology. 751 Feb 68

It has been reported that Demodex mites play a role in the pathogenesis of rosacea, acne vulgaris, perioral dermatitis, seborrhoeic dermatitis, micropapular-pruritic dermatitis, and blepharitis. Methods used for diagnostic purposes included cyanoacrylic adhesives, comedone extractor, cellophane tape preparations, skin scraping, punch biopsy and standardized surface skin biopsy. This study is a retrospective work. The aim of the present retrospective study was the investigation of the incidence of Demodex mites using histopathological examination of skin biopsy specimens of keratinized cysts, fungal spores, tricholemmal cysts, nevi, dermatitis, fibrosis, carcinoma and inflammation of the scalp. Fifty-nine biopsy specimens were examined histologically after staining with hematoxylen-eosin. Demodex mites (i.e., tricholemmal cyst, dermatitis, sebaceous cyst, carcinoma, keratose cysts, nevi, fungal spores) were found in 9 (15.3%) of them. It was concluded that since this parasite is found in pathological cases of the scalp, the possible role of Demodex in the pathogenesis of such diseases should also be evaluated.
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PMID:[Demodex spp. in hairy skin biopsy specimens]. 1915 9

Human immunodeficiency virus (HIV) causes impairment to the human immune system which leads to immunocompromised conditions, including ocular complications. Several important HIV-associated disorders may involve the anterior segment, ocular surface, and adnexae organ such as dry eye, blepharitis which reduce quality of life of patients. In present, potent antiretroviral therapies HAART (highly active antiretroviral therapy) has improved the length and quality of life which may lead to an increased prevalence of anterior segment ocular disorders. Hence, this study has been undertaken to identify the prevalence and associated factors of anterior segment and external ocular disorder in HIV infected patients in the era of HAART. A prospective descriptive cross sectional study was carried out in HIV positive patients conducted at the Department of Ophthalmology, Chiang Mai University Hospital, from February 2014 to October 2015. Detail history and ocular examination was carried out to examine for anterior segment and external ocular disorders. A total number of 363 patients were included for this prospective cross-sectional study. From the total of 363 patients, 123 patients had an anterior segment and external ocular disorder which account as the prevalence of 33.9%. The most common anterior segment manifestations was dry eye seen in 36 patients (9.9%), followed by posterior blepharitis (Meibomian gland dysfunction) seen in 23 patients (6.3%) and anterior blepharitis seen in 12 patients (3.3%). Other ocular complications included microvasculopathy, immune recovery uveitis, conjunctivitis, papilloma, anterior uveitis, corneal ulcer, nevus, trichiasis, molluscum contangiosum, Kaposi sarcoma, interstitial keratitis, conjunctival lymphangiectasia, dacryocystitis, vernal keratoconjunctivitis and eyelid penicilosis. In this study, the prevalance of anterior segment disorders was higher than in the preHAART era. Dry eye, blepharitis and uveitis were the top three most common anterior segment disorders in the HAART era. The statistical analysis showed no association between age, sex, CD4 count, duration of infection or receiving HAART and anterior segment disorders. Anterior segment abnormalities reduce the quality of life of patients, so ophthalmologists have to be aware and complete ocular examination should be performed in all HIV infected patients.
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PMID:Anterior segment and external ocular disorders associated with HIV infections in the era of HAART in Chiang Mai University Hospital, a prospective descriptive cross sectional study. 2946 24

To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. In our cohort, all patients had a positive CHD7 mutation, in addition to a clinical diagnosis. 19.4% (13/67) of CHARGE patients did not have a coloboma in either eye. 69.2% (9/13) had strabismus, 76.9% (10/13) had a refractive error that warranted refractive correction, 23.1% (3/13) had amblyopia, 38.5% (5/13) had nasolacrimal duct obstruction, 30.8% (4/13) had dry eye syndrome and exposure keratopathy, 15.4% (2/13) had ptosis, 15.4% (2/13) had blepharitis, 15.4% (2/13) had Cortical Visual Impairment, 7.7% (1/13) of patients had optic nerve drusen, 7.7% (1/13) had Marcus Gunn Jaw Winking, and 7.7% (1/13) with an eyelid nevus. There are numerous ophthalmic findings in individuals with CHARGE Syndrome without colobomas. No study to date has evaluated the ophthalmic findings in CHD7 positive CHARGE patients without colobomas. These findings need to be assessed and treated to ensure optimal vision in the CHARGE patient population. Absence of coloboma does not rule out a diagnosis of CHARGE syndrome, and if there is a clinical suspicion, clinical confirmation then genetic testing would be warranted.
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PMID:CHARGE syndrome without colobomas: Ophthalmic findings. 3291 32