Witkop tooth and nail syndrome: a case report

Abstract

Witkop tooth and nail syndrome is an autosomal dominant ectodermal dysplasia characterized by hypodontia and nail dysplasia. Mutations in MSX-1 have been identified as being involved in the syndrome. Mandibular incisors, secondary molars and maxillary canines are the most frequently missing teeth. Tooth shape may vary, and conical and narrow crowns are common. Nail dysplasia affects finger- and toenails, and is often more severe in childhood. Nails may be spoon-shaped, rigid, slow-growing and easily broken. The clinical and radiographic features of a mother and child presenting with this rare condition are described.

Witkop Tooth and Nail Syndrome: A Report of Three Cases in a Family

“…Although inheritance is autosomal dominant, considerable variation in expression may be found (4). The relatively mild degree of symptoms in the boy we saw may also suggest that he was affected to a lesser degree, as in the case reported by Devadas et al (8).…”

“…Defects in primary teeth may be so mild that no abnormality is noted until the permanent teeth fail to erupt, as in the boy described here. The developmental absence of mandibular premolars and second molars in all quadrants, as found in both girls reported here, is a frequent feature (2,8).…”

“…Moreover, Fried syndrome involves significant sparseness and thinness of the hair and eyebrows as well as an everted lower lip. Moreover, in individuals with Fried syndrome, the nails are not as severely affected (8,11).…”

“…The diagnosis of Witkop syndrome in the family we saw was based mainly on clinical and radiographic findings and family pedigree (8,13). Genetic counseling is beneficial for affected individuals and their families (3).…”

“…Dental characteristics in affected individuals include congenitally missing permanent or primary teeth. In addition, tooth malalignment and anatomical irregularities are common findings; as a result, the teeth are widely spaced, conical in shape, and have narrow crowns (8,9). Some authors believe these conditions to result in lip eversion because of impaired vertical occlusion (3).…”