At birth, the patient demonstrated a right-sided cleft lip and bilateral cleft palate, ankyloblepharon of the right eyelid, onychodystrophy, syndactyly of the fourth and fifth toes bilaterally, and widespread erosions and pustular lesions on the extremities and scalp. DNA analysis of buccal swabs revealed a T to C point mutation in exon 13 of the TP63 gene which resulted in an L514S mutation in the sterile alpha motif (SAM) of the p63 protein (numbered according to GenBank accession number AF075430).
Further evaluation of the patient revealed bilateral lacrimal gland and duct atresia, as well as atretic ear canals. Potassium hydroxide examination of a pustule scraping was positive for budding yeast forms and superficial swabs of scalp erosions grew Staphylococcus aureus, Enterococcus species, and Pseudomonas species, for which she received broad spectrum systemic antibiotics and antifungal therapy. Her skin erosions were treated with topical bacitracin ointment under petrolatum gauze and ultimately healed by four weeks of age. However, scalp erosions have persisted and have been increasingly difficult to manage.