Abstract
A lady and her sister presented with bilateral neck scarring, broad nasal root, deformed ears with preauricular pits, and small-sized squinted eyes with colobomas. Biopsy from the scarred skin showed atrophic skin, scarred dermis, and absent skin appendages. A high index of suspicion aided in diagnosing this rare genetic disorder.
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El-Darouti, M.A., Al-Ali, F.M. (2019). Neck Scarring, with Defects of Ears and Eyes. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_1
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DOI: https://doi.org/10.1007/978-3-030-21855-3_1
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