Progressive facial hemiatrophy (Parry-Romberg syndrome)

Progressive facial hemiatrophy (PFH), also known as Parry-Romberg or Romberg syndrome, is a sporadic, but not so rare disease (OMIM # 141300) characterised by progressive and self-limited shrinking and deformation of one side of the face, which involves different tissues, scar-like cutaneous changes, subcutaneous connective and fatty tissue’ atrophy, circumscribed osteoporosis, bone deformation accompanied usually by contralateral Jacksonian epilepsy, trigeminal neuralgia (and/or peripheral nerve dysfunction), and changes in the eyes and hair. Evidence of mendelian basis is lacking. Larner and Bennison (1993) reported discordance in a pair of monozygotic twins and Anderson et al. (2005) reported two first cousins with PFH, whose fathers were dizygotic twins and whose mothers were sisters.