Progressive Facial Hemiatrophy

Abstract

fact is the more remarkable since progressive facial hemiatrophy hardly presents diagnostic or therapeutic problems of magnitude. It is rather the great variety of clinical features and the pathogenesis of this puzzling disease that have attracted such widespread attention. From this standpoint the following clinical observations are noteworthy. REPORT OF CASESCase 1 (National Hospital Queen Square, London, service of the late S. A. K. Wilson).\p=m-\Thepatient was a 20 year old girl. Her complaints were: wasting of the right side of the face since the age of 7 years; fits since the age of 15 ; general headache and knifelike pains through the right side of the head for four or five years, and recent weakness of the whole left side.When she was 4 years old, a "white spot" was noticed on the right side of her forehead, near the midline. This spot gradually spread upward to the scalp, which became completely bald in that area. When she was 7 years old, it was noticed that the right side of the head sank in; for the four years prior to her admission to the hospital this depression had remained stationary.At the age of 7 she had for the first time a sudden attack of a tight feeling spreading up from the left thumb to the shoulder, the face and down the leg, the left foot being affected last. There was no loss of consciousness. This was followed by pain down the whole left side of the body and by muscular twitchings ; sometimes the drawing up started in the toes of the left foot and worked into the left arm and the left side of the face. These attacks occurred once in three or four weeks; each of them left her with weakness of the left side, especially of the left arm, which would abate in one or two days. For hours after an attackTo the memory of Samuel Alexander Kinnier Wilson, who suggested this publication.

Progressive hemifacial atrophy: historical review and actual features related to a new classification of facial hypoplasia and atrophy

“…A neurovasculitis (mainly around the venules) of the dermal neurovascular bundles, reported in a few cases of Romberg's syndrome, also occurs in Bell's palsy, herpes zoster, myasthenia gravis [65]. Christianson et al reported 38 cases of hemifacial atrophy in a study of 235 cases of localized scleroderma and observed a high incidence of anomalies of the central nervous system, suggested a relationship between scleroderma and neuropathic heredity or an indication of a neurovegetative disease in accordance with Wartenberg [16,88]. Also Tuffanelli et al, despite including PHA in localized scleroderma, believed that linear scleroderma could be a developmental anomaly excluding those cases with concurrent collagen-vascular diseases [84].…”

“…Archambault and Fromm collected nearly 400 cases, mentioning Moebius, Cassirer, and Marburg [2,13,48,50]. The works by Bini and Wartenberg were fundamental for an understanding of PHA (progressive hemifacial atrophy) [9,87,88]. Rogers reviewed 772 cases, and Mussinelli et al 100 selected cases for the period 1946/63, excluding all those impure and undefined cases of facial atrophy [56,72].…”

“…A latent, heredodegenerative, chronic mesencephalic lesion of neurovegetative type can spring up after infective, traumatic or unknown stimulation according to Bini, Wartenberg, Sanvenero Rosselli, Franceschetti and Koenig, Belloni, Peskova and Stockar, etc. [6,7,9,13,26,27,36,37,66,67,70,78,88]; this theory is reinforced by associated neurologic findings (15.5 % after Gorlin and Pindborg) [8,17,28,45,58,91], experimental cervical sympathectomy [53], ipsilateral or contralateral involvement of the trunk and extremities, unilateral involvement of various organs [1,56,57,71]. The heredodegenerative hypothesis could be supported if autosomal transmission [28,43,62] occurs with such a reduced penetrance and expressivity, so that only external, intra-or extrauterine factors allow the atrophy to phenotipify later.…”

“…Then, the subcutaneous atrophy progresses with sudden remissions of months or years. The disease process can stop early leaving only mild atrophy, localized usually in the frontal or malar areas [56,88], these are microforms of Romberg disease [71], or progress towards widespread involvement of facial tissues. The skin can become thin, taut and dry until it is adherent to muscles and bones.…”

“…Neuropathies and ophthalmopathies are the most common, from 10% to 30% [28,70,71,76]: general [1,88] and contralateral Jacksonian epilepsy [29,42,56,81,86,88], ipsilateral sympathetic disorders such as Hornet's syndrome (22% of cases 26,27), perspiration anomalies, unilateral mydriasis and heterochromia irides [28,72], Raynaud syndrome [3], trigeminal neuralgia [11,23,28,72], facial palsy and neuropsychoses [72,88], etc. ; ipsilateral Fuch's syndrome, exo-and enophthalmos, ptosis, ophthalmoplegia [38,46], optic atrophy, keratitis, ectropion, lid coloboma, etc.…”