Progressive facial hemiatrophy is a gradually worsening reduction in the size of half of the face, leading to its pronounced asymmetry. These changes are based on progressive atrophy of the skin, soft tissues and bones of the face. The disease leads to the formation of a gross aesthetic defect. Diagnosis is based on clinical data. Additionally, an EEG, REG or ultrasound of the vessels of the head, an MRI of the brain or an echo-EG, a biopsy of the skin and muscle tissue is performed. Treatment is nonspecific symptomatic — anabolic steroids, trophotropic agents, potassium preparations; according to indications, dehydration, antiepileptic and antineuralgic therapy. Correction of facial asymmetry is carried out by means of plastic surgery.
General information
Progressive facial hemiatrophy was described in 1837 by the British physician Parry. Later, in 1846, the German doctor Romberg associated the disease with a violation of the trophic function of the nervous system and attributed it to trophoneurosis. The latter in neurology also include trophic ulcers, Raynaud’s syndrome, a perforated foot ulcer that occurs in some spinal diseases, etc. In honor of the first researchers of facial hemiatrophy in the world literature, it is often referred to as Parry-Romberg disease.
Progressive facial hemiatrophy can act as an independent nosology or be a syndrome of other diseases — syringomyelia, scleroderma, spinal dryness in neurosyphilis, echinococcosis of the brain, tumors, etc. The typical age of onset of idiopathic hemiatrophy varies from 4 to 20 years. In females, it occurs 6 times more often than in men.
Causes
The true etiology and mechanisms of the disease development are not known for certain. Cases are described when progressive facial hemiatrophy developed after a traumatic brain injury, facial contusion, trigeminal neuralgia, infectious disease, ACVA, tooth extraction, damage to the cervical sympathetic ganglia. Familial and congenital cases of hemiatrophy were noted.
Currently, it is assumed that progressive facial hemiatrophy occurs with the pathogenic influence of various trigger factors (injuries, intoxications, infections) on suprasegmental cerebral autonomic centers in the presence of their functional (possibly genetically determined) insufficiency. As a result of the negative impact on the suprasegmental centers located in the hypothalamus, their regulating effect on the cerebral and spinal autonomic ganglia is disrupted, which leads to a disorder of the autonomic regulation of trophic processes in the area of innervation of the corresponding ganglion. Thus, there are local dystrophic and atrophic changes in the skin, subcutaneous tissue, muscle tissue and bone.
Symptoms
Progressive facial hemiatrophy appears in the form of one small area of skin atrophy, depigmentation or hyperpigmentation, usually localized in the central parts of the face — cheek, orbit area, lower jaw. There is a concomitant sweating disorder — hyperhidrosis or anhidrosis of the affected area. The skin becomes thinner, forms folds, subcutaneous vessels become visible through it. With such changes, the skin is often compared to parchment paper. It is characterized by increased vulnerability of the skin and poor wound healing. The spread of the atrophic process to the subcutaneous tissue leads to local tissue entanglement.
With the progression of the disease, atrophic changes affect the entire half of the face, sometimes moving lower — half of the neck. Moderate atrophy of the masticatory and mimic muscles occurs, while muscle functions are not impaired. In some cases, there is atrophy of the muscles of the nose, leading to its asymmetry. Possible atrophy of the auricle, muscles of the corresponding half of the tongue and soft palate. Atrophic changes in the tissues of the periorbital zone form a picture of the occlusion of the eyeball, which can be mistaken for enophthalmos.
Parry-Romberg disease is accompanied by depigmentation and hair loss, including eyelashes and eyebrows. On the side of the lesion, Gorner’s syndrome appears (pupil constriction, drooping of the upper eyelid, occlusion of the eyeball), indicating a disorder of sympathetic innervation. In some cases, patients report pain in the affected half of the face. If atrophy covers the entire half of the face, then its gross asymmetry arises. Atrophic processes in the bone tissue lead to a decrease in the size of the bones of the facial skull — the zygomatic arch, nose, upper and lower jaw, tooth loss up to complete adentia on the affected side.
There are cases of a more generalized course of hemiatrophy with the spread of the process to the shoulder girdle, chest, upper limb. In exceptional cases, there are total and cross hemiatrophy, bilateral hemiatrophy of the face. In children, generalized forms are often accompanied by delayed motor development, delayed speech development, curvature of the spine, hip hypoplasia of the same side, Jackson convulsive seizures in the opposite half of the trunk.
Diagnostics
The vivid and pathognomonic clinical picture, which is given by progressive facial hemiatrophy, makes it possible to establish a diagnosis based only on clinical data. Difficulties with diagnosis may occur in the initial period of the disease. Initially, patients seek help from a dermatologist or dermatooncologist, less often from a cosmetologist. They must necessarily be redirected to a neurologist. In the presence of epiprimes, an epileptologist’s consultation is recommended.
Collecting anamnesis allows you to determine the progressive nature of changes in facial tissues. Questioning the patient can reveal the presence of vegetative pains and paresthesia, the absence of gross sensory disturbances and problems with chewing and swallowing food. An objective review determines the presence of atrophic skin changes, pigmentation disorders (spotted dyschromia, areas of brown color, etc.), signs of vegetative-trophic disorders. Characteristic is the preservation of skin sensitivity and motor function of facial muscles.
In order to identify the secondary nature of facial hemiatrophy, concomitant congenital anomalies and atrophic changes in the medulla, a comprehensive examination of the patient is carried out. Electroencephalography, MRI of the brain is prescribed (in its absence — Echo-EG to measure intracranial pressure), duplex scanning or ultrasound of the vessels of the head (if such examinations are impossible, REG is performed). EEG can reveal increased epileptic activity of the brain, MRI — areas of atrophy and hydrocephalus, vascular studies — reduced blood filling of the opposite hemiatrophy of the half of the head. A biopsy of the skin and muscles followed by histological examination allows us to confirm the presence of total atrophic changes in the skin, subcutaneous tissue and muscles.
Treatment
To date, progressive facial hemiatrophy has no effective pathogenetic treatment. It is possible to prescribe anabolic hormones (nandrolone decanoate, methandienone), trophotropic drugs and potassium preparations. In the presence of epileptic seizures, it is necessary to select anticonvulsants (carbamazepine, levocetirizine, phenytoin, valproates, topiramate, etc.), with hydrocephalus — dehydration therapy (acetazolamide according to the scheme), with intense pain syndrome — antineuralgic treatment (carbamazepine or phenytoin, chloropyramine, pentoxifylline, drotaverine, B vitamins).
In order to reduce the severity of facial asymmetry, plastic surgery can be performed — the introduction of fatty tissue (lipophilling of the cheek), skin and skin-fat graft transplantation, paraffin injections or silicone injection. The choice of treatment method is determined by the plastic surgeon in accordance with the degree of tissue atrophy. So, with mild hemiatrophy, it is advisable to introduce individual silicone implants. Pronounced progressive hemiatrophy of a person with a skin deficiency is an indication for local plastic surgery.
Experience has shown that over time, skin and skin-fat grafts undergo partial atrophy and scarring. The best result is obtained by autotransplantation of revascularized flaps, which can be taken from the groin area, the abdominal area (with the inclusion of the rectus abdominis muscle), the scapula area. In the presence of gross sclerodermic changes with impaired skin elasticity, autotransplantation with a thoracodorsal flap is indicated. In order to achieve the best aesthetic effect at the final stage, such plastic surgeries can be supplemented with the introduction of silicone implants. Competently performed modern plastic correction of hemiatrophy provides long-term preservation of the results of the operation.
Prognosis and prevention
The prognosis in the sense of recovery is unfavorable. However, progressive facial hemiatrophy does not significantly affect the functioning of the patient’s body and leads only to a persistent aesthetic defect that can be successfully corrected by plastic surgery methods. Since the etiology and pathogenesis of facial hematrophy have not been precisely established, its specific prevention cannot yet be developed.