A 9-Month-Old Infant with Severe Scalp Dermatosis

    August 2016 in “ Journal of the American Academy of Dermatology ”
    Sibel Doğan, Nilgün Atakan
    TLDR The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
    A 9-month-old male infant presented with severe crusting and alopecia on the frontal scalp, characterized by an atrophic alopecic plaque with telangiectasias and peripheral desquamation. The infant had hypopigmented, sparse, and coarse hair, hyperconvex and triangular fingernails and toenails, and bilateral partial syndactyly between the fourth and fifth toes. His medical history included lacrimal atresia, and surgeries for ankyloblepharon, cleft lip, and cleft palate. The most likely diagnosis was Hay–Wells syndrome, and genetic analysis for p63 mutation was suggested as an appropriate diagnostic test. The next best approach for the patient was screening (echocardiography) for cardiac anomalies.
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