A NEW AUTOSOMAL DOMINANT NEUROECTODERMAL SYNDROME

Abstract

This report describes three males and four females in three generations of a family with a new, progressive neuroectodermal syndrome. The principal features are: seizure (6/7); cerebral vascular accident (1/7); generalized hirsutism (7/7); low frontal hair line and temporal projection of scalp hair onto forehead (7/7); coarse facies (7/7); redundance of skin of the eyelids (blepharochalasis) (5/7); thick lips (6/7) hyperplasia of tissue in anterior palatal region (4/7) and cutis verticis gyrata (5/7). Abnormalities are more marked in males. No corneal leukoma, clubbing of the digits, periostosis or mental retardation are present. Androgen profiles and FSH/LH ratios in the two cases tested are normal. The occurrence of this disorder in three generations with male-to-male transmission documents autosomal dominant inheritance. This condition has features in common with pachydermoperiostosis, however it lacks clubbing and periostosis. Pashayan et al. (1973) reported on a family with blepharo-naso-facial syndrome; these individuals have many similarities to our cases, yet they have marked dystopia canthrum, torsion dystonia, and mental retardation which are not present in our cases. Gingival fibromatosis-hypertrichoses syndrome differs by having extensive gingival fibromatosis and mental retardation. Autosomal dominant syndrome of cutis verticis gyrata and thickening of the oral mucosa (Hughes, 1983), has many features in common with our cases but lacks hirsutism. We conclude that our cases represent a new syndrome.

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