Parry-Romberg Syndrome

Abstract

Parry-Romberg syndrome (PRS) is an uncommon disorder and characterized by a slowly, an acquired progressive atrophy involving skin, soft tissue, cartilage, and bony structures. Accompanying atrophies of the other parts of the body are rarely reported. The aim of this study is to report a case that had contralateral lower extremity atrophy with PRS, and to review the related etiologic features, physiopathology, and mechanism. The patient who admitted for his facial atrophy also had atrophy of his contralateral extremity. This extremity was also short in length when compared with other extremity. To obtain detailed information regarding the severity of involvement routine laboratory investigations including antinuclear antibody (ANA), magnetic resonance imagine (MRI) of the craniofacial region and lower extremities, MR angiography of the lower extremities and brain, 3-dimension computed tomography (CT) scan of the craniofacial region were performed. Normal or negative laboratory findings included results of blood count, renal and hepatic function biochemical tests, rheumatoid factor, C-reactive protein, anti-dsDNA antibody except ANA that were positive. His lower extremity and brain MR angiography were normal. In the 3-dimensional cranial CT, there was no abnormality or defect in the bony structures. His brain MRI showed no pathologic changes, and his facial MRI demonstrated noteworthy atrophy to the sternocleidomastoid, masseter, pterygoid muscles, and subcutaneus soft tissues on the right side of the face. Additionally, MR investigation of his lower extremities revealed decreased volume in muscles and bony structures of the effected extremity compared with the other extremity, but pathologic evidence of fatty degeneration associated with muscle atrophy was not demonstrated. The patient had isolated contralateral lower extremity involvement combined with hemifacial atrophy (without affecting any other part of the body). Although more accepted theory is the sympathic nervous system dysfunction, autoimmunity may play a roll in the etiology of our case as ANA abnormality was found in multiple tests.

Caracterização miofuncional orofacial na síndrome de Parry-Romberg

“…In the situations evaluated for this study, there was a higher occurrence of atrophy in the buccinator muscle region and no incidence of atrophy in the masseter muscle region. However, a previous study (6) reported the case of a patient with Parry-Romberg syndrome who presented with atrophy of the sternocleidomastoid, masseter and pterygoid muscles and of the subcutaneous soft tissues, though these findings were revealed via magnetic resonance imaging (MRI) rather than EMG. To validate these results, the test should be repeated, adding the buccinator muscle region to the data collection and analysis.…”

“…In Parry-Romberg syndrome, the individuals show normal craniofacial growth until the onset of the first signs, which normally occurs in the first two decades of life (2)(3)(4)6,7,10,11,13) . Normal craniofacial growth may explain why there were no significant differences regarding the static measurements of the face, even when dealing with a syndrome whose main characteristic is facial asymmetry (4,13) .…”

“…Parry-Romberg syndrome, described by Parry and Romberg in the nineteenth century, is also known as progressive facial hemiatrophy (1)(2)(3)(4)(5)(6)(7)(8)(9)(10) . This syndrome is usually unilateral (2)(3)(4)6,10,11) , affecting the skin (1,3,5,(7)(8)(9)(10)12) , muscles (1,3,(5)(6)(7)(8)10,11) , fatty tissue (4,6,8,12) , cartilage (4,7) and bones (1,3,4,(6)(7)(8)(9)(10)(11)(12) , and can also present as idiopathic facial atrophy because its etiology remains unknown.…”

“…Given this clinical picture, patients often seek medical care with aesthetic complaints (3) . Parry-Romberg syndrome, which is more common in women (2,3,6) , usually begins in the first two decades of life (2)(3)(4)(6)(7)(8)10,11,13) and progresses slowly over a period of two to ten years (6) until it stabilizes (3,6,7) . Because it is a rare syndrome, the main information on it is based on case studies or case series.…”

“…The most important features of the syndrome are facial asymmetry (4,13) , which can extend across the entire hemiface (13) , deviation of the mouth and nose to the affected side (6) and unilateral exposure of teeth in the smile (3,4,12) . When the forehead is affected, the patient presents localized linear scleroderma, characterized by skin thickening due to excessive deposition of collagen fibers and known as en coup de sabre (8,12,13) .…”