Parry Romber syndrome

 

 

Parry Romberg syndrome : newer concepts in pathophysiology.

Aleem MA, Meikandan D, Raveendran S, Ramasubramanian D



Parry Romberg Syndrome (progressive facial hemiatrophy) is characterized by slowly progressive atrophy of subcutaneous tissue. Bones, muscles, nerves, eyes and brain may be affected by atrophy of unknown origin. This condition was first described by Romberg in 1846.

A 18 years old girl presented with history of slowly progressive atrophy of right half of the face for five years duration. She had normal early development. Family history was not contributory. There was no history of any trauma or infection. There was atrophy of subcutaneous tissue, fat and muscles over the right half of the face with enophthalmos. Temporalis, massetars, orbicularis ocular and orbicular oris muscles were wasted [Figure. 1]. There was no tongue or pharyngeal muscles involvement. There was no other neurological deficit. Morphoea (localised scleroderma) was present over the anterior aspect of right thigh. EEG showed random sharp wave discharges over the right frontotemporal region. X-ray face showed no bony atrophy. CT scan of brain was normal. Skin biopsy of morphoea over the right thigh showed, chronic inflammatory changes consisting of severe atrophy of the epidermis, dermis, fatty tissue, marked proliferation of collagen fibres and perivascular infiltration by round cells and gaint phagocytes. EMG over the right thigh was normal.


Progressive facial hemiatrophy is characterised by slowly progressive atrophy frequently involving only one side of the face, primarily affecting the subcutaneous tissue and fat. The onset usually occurs during the first two decades of life. The cause and pathophysiology are unknown. Recently blink reflex and trigeminal evoked potential studies in these cases have indicated abnormalities in brain stem as well. Immunological evidence has favored the possibility of involvement of noradrenergic system in the brain stem. Hyperactivity of the brain stem sympathetic centers, possibly caused by an autoimmune process may be the primary cause for cutaneous and subcutaneous atrophy in Parry-Romberg Syndrome.[1] This disease may be due to neural crest defect.[2] Rarely ophthalmic involvement, in the form of enophthalmous,[3] pupillary disturbance. heterochromia, uveitis, pigmentary disturbance of ocular fundi and restrictive straismus have also been reported in these cases. Present patient showed evidence of right-sided enophthalmos. There may be associated otorhinolaryngological disorders[4] in the form of unilateral hearing loss, frontal sinus deformity and parotid gland atrophy in Parry Romberg diseases. Parry Romberg disease may be associated with hemiatrophy of brain, breast and whole half of the body along with pigmentary skin abnormalities such as vitiligo, facial nevus and morphoea along with sweating and lacrimation abnormalities. Our patient had right thigh morphoea proved by biopsy. Generalised or lateralised epileptic seizure activity, ipsilateral to the side of the hemiatrophy[5] may be noted in EEG, as seen in our case. There is no specific treatment. Sometimes progressive hemifacial atrophy is treated with autotransplantation of thoracodorsal flaps, and other facial reconstructive surgery with free fatty tissue.