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128 DENTAL MALFORMATIONS: AN ADDITIONAL FEATURE OF DIGITO-CUTANEOUS DYSPLASIA
  1. C. D. Ganal,
  2. K. K. Vaux,
  3. L. M. Bird*
  1. San Diego, CA. *Children's Hospital & Health Center

Abstract

A syndrome of digital fibromas, distal limb malformations, and focal dermal hypoplasia has recently been elucidated in the literature. In 1974, Bloem et al. were the first to describe an association between digital fibromas and pigmentary lesions. In 1998, Horii et al. reported on another case in which digital fibromas were associated with pigmentary dysplasia in addition to facial dysmorphism and metacarpal and metatarsal disorganization and postulated that this was a hamartomatous syndrome not previously described. Bacino et al. (2000) described a four-generation family with ten affected females that strongly suggested X-linked dominant inheritance with male lethality, and later Zhang et al. (2000) mapped this condition to Xq27.3-Xqter. In 2001, Gorlin et al. termed the syndrome digito-cutaneous dysplasia. Other than multiple frenula, oral findings have been discussed only once by Lin et al. in 2003, who described a patient in which there were significant dental findings. The purpose of this abstract is to report an additional case in which there are dental findings similar to those reported by Lin et al. The patient is a 2-year-old female born to an unaffected 19-year-old Mexican G1P1 female. Her weight is less than the third percentile, her height is between the fifth and tenth percentile, and her head circumference is at the tenth percentile. She has telecanthus, a depressed nasal tip, overfolded left helix, hyperextensibility, small and proximally-placed thumbs, multiple digital fibromas with associated joint contractures, abnormal distal palmar creases, clinodactyly, and several hyperpigmented and hypoplastic skin lesions. Her dental findings include multiple caries, conical incisors, and wedge-shaped grooves in several teeth. The frequency of dental malformations in digito-cutaneous dysplasia should become clear as more cases of this condition are identified. If the oral features of this condition prove to be a consistent feature, perhaps Oral-Digital-Cutaneous Dysplasia would describe the condition even more accurately.

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