Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant ciliopathy characterized by facial, oral, and digital anomalies, often with neurological involvement. We report an 11-month-old girl presenting with multiple congenital milia on the cheeks, forehead, and auricular helices, accompanied by sparse wiry hair, partial occipital alopecia, and trichoscopic features of pili torti and comma-shaped black dots. Additional findings included craniofacial and oral anomalies, brachydactyly, preaxial polydactyly type 1 (PPD1), and agenesis of the corpus callosum with intracerebral cysts. This case highlights the diagnostic significance of congenital milia as an early clue for recognizing OFD1.
Fid et al. (Sun,) studied this question.