A 6-month-old girl presented with a lesion at the midline vertex of her skull that had been present since birth. The lesion was noted to have an annular dark tuft of hair with central clearing emanating from an underlying plaque directly over the posterior fontanel, measuring 18 × 15 mm (Figure, A). The lesion was growing with the child.
The patient’s history was also significant for congenital left renal agenesis and failure of her newborn hearing screening test. On examination, she had epicanthal folds, upslanted palpebral fissures, and bilateral clinodactyly. Results from initial genetic testing, including microarray and single gene testing for branchio-oto-renal syndrome, were negative for abnormalities.
Bick DS, Brockland JJ, Scott AR. A Scalp Lesion With Intracranial Extension. JAMA Otolaryngol Head Neck Surg. 2015;141(3):289-290. doi:10.1001/jamaoto.2014.3479