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Congenital Hypertrophy (congenital + hypertrophy)
Selected AbstractsCongenital Hypertrophy of the Lateral Nail Folds of the Hallux: Clinical Features and Follow-Up of Seven CasesPEDIATRIC DERMATOLOGY, Issue 5 2000Bianca Maria Piraccini M.D. We describe the clinical picture and follow-up of seven patients with this abnormality. In three patients the affected toe showed an asymptomatic, dome-shaped, hypertrophic lip that partially covered the nail plate. Four patients had acute inflammatory changes due to toenail ingrowth, with considerable swelling and reddening of the hypertrophic lip that was painful on pressure. Topical treatment with steroids was useful to reduce inflammation and produced persistent remission in two patients. Follow-up showed a spontaneous disappearance of the hypertrophic nail fold in one of the seven patients. In two patients the hypertrophic lip partially regressed, but remained clearly visible, while in two patients it remained unchanged. In two patients surgical correction of the soft tissue abnormality was necessary due to painful nail ingrowth unresponsive to topical treatment. [source] 2463: Phenotype/genotype in Gardner diseaseACTA OPHTHALMOLOGICA, Issue 2010S MILAZZO Purpose Gardner syndrome is a variant of familial adenomatous polyposis and results in the manifestation of external and internal symptoms including gastrointestinal polyps, osteomas, tumors, epidermoid cysts and congenital hypertrophy of retinal pigment epithelium. Methods Three families of Gardner syndrome including 23 patients underwent complete check-up to characterize ocular and general phenotype. Ophthalmologic manifestations are simple, non invasive reliable and very sensitive. The gene responsible for this disorder was localized on the long arm of the fifth chromosome. APC-associated polyposis conditions are caused by mutations in the APC gene. A subset of individuals with clinical features of FAP will instead carry a mutation in the MUTYH gene. Results Of the 23 patients, 13 presented a bilateral congenital hypertrophy of retinal pigment epithelium. In these patients 6 had a positive coloscopic exploration. This inherited autosomal dominant disorder has a marked propensity to malignant transformation, so, it is important to detect affected patients early. Conclusion Currently, there are no specific screening recommendations for Gardner syndrome, but testing following general screening recommendations for extra-colonic malignancies, genetic counseling, and endoscopy are encouraged. [source] Topography of solitary congenital hypertrophy of the retinal pigment epithelium in the ocular fundusACTA OPHTHALMOLOGICA, Issue 8 2009Jørgen Krohn No abstract is available for this article. [source] | ||||||||||