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.
Progressive facial hemiatrophy (Parry-Romberg syndrome)
MILONE, Pietro
2008-01-01
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.