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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a rare intracranial meningeal melanocytoma associated with the nevus of Ota. The patient was 36-year-old man with a 2-week history of headache and difficulty in opening his right eye. Physical examination showed a black nevus scattered on the right-hand side of the face, right eyelid ptosis and papilledema. CT scans and MRI showed a tumor in the region of the right cavernous sinus. The tumor was subtotally resected. Histological examination confirmed the diagnosis of melanocytoma.
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PMID:Intracranial meningeal melanocytoma associated with nevus of Ota. 2192 17

Congenital giant melanocytic nevi of the scalp and forehead are rare lesions present at birth. These lesions are associated with risk of malignant transformation, but they primarily represent a psychological problem to both patient and parents and merit early excision and reconstruction. In this study we report our own experience: seven patients, aged 8 months to 9 years, with congenital pigmented nevi involving forehead and scalp, and a 4-year old patient with congenital pigmented nevus of periorbital region and nose were treated successfully with excision and expanded skin flap reconstructions. The mean expansion procedures were 2 (range, 1 to 3), with an average of 8,8 injections for each expansion procedure (range, 6 to 11). In only one patient simultaneous expanders were placed in the scalp and forehead. Follow-up ranged from 4 months to 15 years. We had no rupture, extrusion or infection of the skin expanders. Complications included eyebrow ptosis and asymmetry in two patients underwent correction at a final procedure. In our opinion tissue expansion is an excellent technique for the treatment of giant nevi of the scalp and forehead because it offers the best aesthetic and functional outcomes.
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PMID:Giant congenital nevi of the scalp and forehead treated by skin expansion. 2211 Dec 95

A kissing nevus is a type of congenital compound nevus that affects equal portions of the upper and lower eyelid, and it extends to the lid margins. Congenital divided nevi of the eyelids are a rare melanocytic lesion. Only 30 patients are reported in the literature. We report a 40-year-old female of rural background who presented with a large painless enlarging pigmented mass, involving both upper and lower left eyelid since the past 20 years. Complete excision of the lesion was done, and the mass sent for histopathology, which revealed a compound nevus involving both lids. Surgery removed the obstruction, which had caused decreased visual acuity and had altered the cosmetic appearance of the patient. Lesions on the upper lid cause a mechanical ptosis, covers the visual axis, which causes obstruction in vision and is cosmetically unacceptable. There is a definite risk of malignant change in the nevus giving rise to malignant melanoma, and hence they should be removed as early as possible to give better functional and cosmetic results.
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PMID:Kissing naevus arising from neural crest cells presenting as upper and the lower lid mass. 2616 32

CLOVES syndrome characterized by Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal anomalies is a recently described sporadic syndrome from postzygotic activating mutations in PIK3CA. This 3-year-old boy, born to nonconsanguineous and healthy parents, had epidermal verrucous nevus, lower limb length discrepancy and bilateral genuvalgum, anterior abdominal wall lipomatous mass, central beaking of L2 and L3, and fibrous dysplasia of the left frontal bone. Ocular and dental abnormalities (ptosis, esotropia, delayed canine eruption, dental hypoplasia), ipsilateral asymmetrical deformity of skull, and large left cerebral hemisphere with mild ipsilateral ventriculomegaly were peculiar to him denoting an uncommon phenotype. The parents did not consent for magnetic resonance imaging and genetic studies because of financial constraints. The CLOVES syndrome has emerged as an uncommon yet distinct clinical entity with some phenotypic variations. Its diagnosis is usually from cutaneous, truncal, spinal, and foot anomalies in clinical and radioimaging studies. Proteus syndrome remains the major differential.
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PMID:Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features - An Uncommon Phenotype? 3133 68

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


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