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Aplasia Cutis Congenita of the Arm with Associated Radial Dysplasia: Case Report, Review of the Literature, and Proposed Classification

Authors

  • Diana Droubi M.D.,

    1. Department of Dermatology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York
    2. Women and Children's Hospital of Buffalo, Buffalo, New York
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  • Ilene L. Rothman M.D.

    Corresponding author
    1. Department of Dermatology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York
    2. Women and Children's Hospital of Buffalo, Buffalo, New York
    • Address correspondence to Ilene L. Rothman, M.D., Department of Dermatology, Women and Children's Hospital of Buffalo, 219 Bryant Street, Buffalo, NY 14222, or e-mail: irothman@kaleidahealth.org.

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Abstract

Aplasia cutis congenita (ACC), congenital absence of skin, is most common on the scalp but may rarely occur on the trunk and limbs. It is a physical finding that can occur in isolation or as part of a heterogeneous group of syndromes. It can affect localized to widespread areas of absent or atrophic, scarred skin at birth. We report a case of ACC of the distal right forearm associated with radial dysplasia in a newborn boy. According to the Frieden classification of ACC, this case, along with other similar reported cases, highlights the need to adjust the classification scheme commonly used for ACC so that it reflects the associated limb abnormalities with ACC of the extremities. Only five cases describing the association of radial dysplasia with ACC of the arm were found in the literature. Greater awareness of this association may allow for early intervention and better outcomes in children with ACC of the extremities.

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