Lymphedema-distichiasis syndrome: report of a case and review.
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Biomedical subjects
Publications and source records attributed to J M Kincannon.
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PURPOSE: The authors document the association of peripapillary staphyloma and an atypical variant of hemimegalencephaly with the linear nevus sebaceous syndrome. BACKGROUND: Linear nevus sebaceous syndrome is an uncommon neurocutaneous disorder that has a propensity to involve the eyes. METHODS: Clinical, histopathologic, and neuroimaging findings are examined in a child with linear nevus sebaceous syndrome. RESULTS: In addition to bilateral peripapillary staphylomas, ophthalmologic abnormalities included a corneal dermoid, a complex conjunctival choristoma, macular hypoplasia, and optic nerve hypoplasia with contralateral optic atrophy. Magnetic resonance imaging disclosed a rare form of hemimegalencephaly characterized by hypoplasia of an optic radiation within the enlarged, dysgenetic cerebral hemisphere. CONCLUSION: The spectrum of oculocerebral dysgenesis in the linear nevus sebaceous syndrome can be expanded to include peripapillary staphyloma and atypical hemimegalencephaly with hypoplasia of an optic radiation.
Patch testing is perhaps not an exact science, but it is the best method available for identifying and confirming contact sensitivity. Illustrated step-by-step instructions for the procedure are presented, with helpful hints to avoid some of the pitfalls.
The ectodermal dysplasias are a heterogeneous group of conditions primarily affecting the hair, teeth, nails, and skin, and are classified according to the tissue(s) affected. The classification categories are: (1) abnormalities of hair, (2) dental defects, (3) abnormalities of nail morphology, and (4) dyshidrosis. Individuals are grouped according to defects present with findings from two or more categories required for diagnosis. As this classification method is based on phenotype, variable expression or small family size may well have an impact on diagnosis. We report a four-generation family with a hair-nail (1-3) dysplasia with nail morphology that is typical of Clouston syndrome. All affected relatives have thick, discolored, hyperconvex nails with onycholysis, varying degrees of hair involvement, and are hidrotic. They lack hyperkeratosis and multiple caries as originally described in Clouston syndrome. We propose that morphologic abnormalities of the teeth may not occur in the phenotype of Clouston syndrome and that it can be considered a hair-nail (1-3) dysplasia.