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Nevus Comedonicus in Oral-Facial-Digital Syndrome Type 1: A New Finding or Overlapping Syndromes?

Authors

  • Lauren A. Baker B.S.,

    1. University of Texas Southwestern Medical School, Dallas, Texas
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  • Nnenna G. Agim M.D.

    Corresponding author
    1. Pediatric Dermatology, Children's Medical Center, Dallas, Texas
    2. University of Texas Medical Center, Dallas, Texas
    • Address correspondence to Nnenna G. Agim, M.D., Pediatric Dermatology, Children's Medical Center, Dallas, F6.01 Pavilion Building, 2350 N. Stemmons Freeway, Dallas, TX 75207, or

      e-mail: nnenna.agim@childrens.com.

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Abstract

We report a patient with oral-facial-digital syndrome type 1 (OFDS1) who exhibited features overlapping those of nevus comedonicus syndrome, an unusual presentation that may potentially represent a new variant of OFDS1. OFDS1 and nevus comedonicus syndrome represent two rare syndromes with numerous overlapping features that have yet to be described in relation to one another. The features present in our patient led us to propose the possibility of a new variant of OFDS1 in which nevus comedonicus represents a cutaneous manifestation of the syndrome. Knowledge of this potential relationship is important for identification and management of the syndromes' accompanying manifestations in affected patients and may offer further insight into crossroads of pathogenesis.

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