Parry-Romberg syndrome: rare disorder of progressive facial hemiatrophy. Slowly progressive atrophy of the soft tissues of one side of the face, associated with trigeminal neuralgia and involvement of the eyes and hair. Muscles, cartilage and the underlying bony structures may also be involved.
The prevalence is estimated to be at least 1/700,000 individuals, women being slightly more affected than men.
PHA usually presents during the first 20 years of life, characterized by slowly progressive unilateral atrophy of various tissues (skin, connective tissue, fat, muscle and rarely, underlying bony structures) in the territory of the 5th cranial nerve.
Seizures and headaches are the most common neurologic symptoms. Ophthalmologic anomalies (enophthalmos, globe retraction, ptosis, iris heterochromia, uveitis, retinal vasculitis, glaucoma and eyelid atrophy) may result in visual impairment or blindness
1825 – Caleb Hillier Parry included an account of the condition now known as progressive hemifacial atrophy. This description appeared in Collections from Unpublished Papers in 1825, 3 years after his death, published by his eldest son, the physician, Charles Henry Parry.
1846 – Romberg gave a complete description of the disorder Trophoneurosen in Klinische Ergebnisse 1846 pp75-81
1871 – Albert Eulenburg (1840–1917), a German neurologist, was the first to use the descriptive term ‘Hemiatrophia facialis progressiva‘ [Progressive Hemifacial Atrophy (PHA)]
1983 – Lewkonia and Lowry definitive review.
- Progressive hemifacial atrophy (PHA)
- Hemiatrophia facialis progressiva
- Romberg syndrome
- Parry CH. Collections from the unpublished medical writings of the late Caleb Hillier Parry. London. 1825. pp478-480.
- Romberg MH. Trophoneurosen. In: Klinische Ergebnisse. Forstner, Berlin, pp75-81
- Eulenburg A. Lehrbuch der functionellen Nervenkrankheiten auf physiologischer basis. Berlin: Hirschwald. 1871 pp712
- Wartenberg R. Progressive facial hemiatrophy. Arch NeurPsych. 1945;54(2):75-96
- Rogers BO. Progressive facial hemiatrophy: Romberg’s disease: a review of 772 cases. Proceedings of the 3rd International Conference on Plastic Surgery. Excerpta Med Int Cong Series 1963; 66: 681-686
- Lewkonia RM, Lowry RB. Progressive hemifacial atrophy (Parry-Romberg syndrome) report with review of genetics and nosology. Am J Med Genet. 1983 Feb;14(2):385-90. [PMID 6601461]
- Tolkachjov SN, Patel NG, Tollefson MM. Progressive hemifacial atrophy: a review. Orphanet Journal of Rare Diseases 2015 doi: 10.1186/s13023-015-0250-9