Fourteen-month-old girl with facial skin thinning.

摘要

A 14-month-old girl presented to our pediatric dermatology clinic for evaluation of a birthmark. She was born at 38 weeks gestation after an uncomplicated labor and delivery to nonconsanguineous parents. At birth, she was noted to have bilateral microphthalmia and an unusual birthmark. On examination, she had a reticulate pattern of brown macules involving the cheeks and extending to the nose and neck (Fig. 1). On the face, it was evident that these were following the lines of Blaschko. Within the affected areas, there were also geographic-shaped, atrophic, pink lesions (Fig. 2). No fat herniation was noted. A cardiac murmur was found, and echocardio-graphy demonstrated a patent foramen ovale. Profound sensorineural hearing loss was also identified.