progressive hemifacial atrophy
Introduction
Introduction to progressive facial atrophy Progressive hemifacial atrophy (progressivehemifacialatrophy), also known as Parry-Romberg syndrome, is a progressive unilateral tissue dystrophic disease, a small number of lesions involving the limb or body, called progressive half atrophy disease. Its clinical features are chronic progressive atrophy of focal subcutaneous fat and connective tissue on one side of the face, muscle fibers are not affected, and severe cartilage and bone are invaded. The disease is associated with sympathetic dysfunction, sympathetic nerve damage caused by various reasons, causing facial tissue neurotrophic disorders, and finally leading to facial tissue atrophy. Other doctrines involve local or systemic infections, injuries, trigeminal neuritis, connective tissue disease, genetic degeneration, and the like. basic knowledge Sickness ratio: 0.00052% Susceptible people: adolescents who are born before the age of 20 Mode of infection: non-infectious Complications: epilepsy migraine
Cause
Progressive side of lateral atrophy
Central or peripheral damage to the autonomic nervous system (30%):
The cause of this disease is not known, as some cases with symptoms of cervical sympathetic disorders including Horner syndrome are generally considered to be related to central or peripheral damage to the autonomic nervous system. Brain hypoplasia can also be complicated by this disease.
Genetic factors (30%):
In recent years, some patients have found that some patients often have dysplasia, congenital aneurysm, etc. It is speculated that genetic factors cause abnormal embryonic development, and may also be related to this disease. In addition, a small number of this disease may be secondary to certain infections such as polio. Trauma, endocrine dysfunction, autoimmune diseases, etc.
Pathogenesis
The muscles in the damaged area shrink due to the disappearance of fat and connective tissue, but the muscle fibers are not tired, and the contraction ability is preserved. The subcutaneous fat and connective tissue in the facial lesion are first affected, and then the skin, subcutaneous tissue, hair is involved. And the fat glands, the heaviest ones invade the cartilage and bones, the skin and subcutaneous fat outside the face, the subcutaneous tissue, the tongue, the soft palate, the vocal cords, the internal organs, etc. are also occasionally involved.
The ipsilateral cervical sympathetic nerve may have small round cell infiltration, and some cases may have atrophy of the cerebral hemisphere, which may be ipsilateral, contralateral or bilateral, with partial atrophy of the body, biopsy showing atrophy of the skin papillary layer The dermis and adipose tissue are fibrotic, and lymphocytes and plasma cells are infiltrated, and the muscle fiber transverse stripes are reduced. In addition, there have been reports in the literature (Henta, 1999) facial nerve fiber atrophy and vacuolar degeneration, and axonal degeneration can be seen under electron microscope.
Prevention
Progressive facial side atrophy prevention
There are no effective preventive measures, mainly to prevent possible primary causes. Early detection and early treatment are the key to prevention. Regular physical examinations are performed once a year to achieve primary prevention. Patients with facial paralysis caused by facial neuritis should be treated aggressively to avoid further aggravation of lateral facial atrophy. Western medicine treatment is mainly treated with nutritional nerves, which can be combined with traditional Chinese medicine acupuncture, massage and other physical therapy measures to avoid further development of progressive facial side atrophy.
Complication
Progressive facial side atrophy complications Complications, epilepsy, migraine
Only some patients were accompanied by seizures or migraine, but about half of the patients had paroxysmal activity recorded on the EEG.
Symptom
Symptoms of lateral facial atrophy Symptoms Common symptoms Chipping dry skin Eyes protruding Hair loss Eyeball invagination Single side atrophy Skin hardening Hair thinning Subcutaneous fat atrophy Atrophy
1. Adolescents who are born before the age of 20, occasionally see the disease within 1 year old, more common in women, insidious onset, slow progress, the process of atrophy can start in any part of the face, mostly a cheek, forehead, etc. The upper part of the sputum is more common, the starting point is often strip-shaped, slightly parallel to the midline; the skin is dry, shrinking, hair loss, called "knife marks", the lesion slowly develops to half of the face, severe cases appear forehead , eyelids, ears, ankles, cheeks, tongues, gums and other tissues shrink, occasionally can affect the side, head, neck, shoulders, or other parts of the body, part of the pain or feeling of the cheeks The onset of the disorder, a small number of onset manifested as seizures.
2. The ward is characterized by localized subcutaneous fat and connective tissue atrophy, skin atrophy, wrinkles, often accompanied by hair loss, pigmentation, leukoplakia, telangiectasia, increased or decreased sweat secretion, decreased salivary secretion, tibia, frontal bone, etc. , there is a clear dividing line with normal skin.
3. Some cases have pupillary changes, iris pigmentation, eyeball invagination or protrusion, eyeball inflammation, secondary glaucoma, facial pain or mild side sensation, facial muscle twitching, and endocrine disorders, etc., can progress with the disease The facial atrophy and focal fat atrophy are often accompanied by skin sclerosis in a certain part of the body. When the side limbs and trunk of the lesion are involved, the limbs become thinner and shorter, the breasts become smaller, the bristles become scarce, and the organs become different. Small, but the muscle strength is normal, and some atrophy invades the contralateral limb, called cross-lateral atrophy.
Examine
Examination of lateral facial atrophy
Blood, cerebrospinal fluid routine and biochemical tests are not specific.
1. X-ray film shows that the lesion side of the bone is thinning, shrinking, and shortening.
2. MRI or CT shows atrophic changes in the diseased side bones, organs, and cerebral hemisphere.
3. EEG can have paroxysmal spikes or slow wave activity.
Diagnosis
Diagnosis and differentiation of progressive facial atrophy
The diagnosis is based on the special facial morphology and imaging changes of the disease. When the patient has typical unilateral atrophy, especially subcutaneous fat atrophy, occasionally affecting the head, neck, shoulders and limbs, and the muscle strength is not affected, the diagnosis Not difficult.
Differential diagnosis
1. Congenital lipodystrophy (also known as Lawrence-Seip syndrome). This disease mainly manifests the body, scattered fat in the limbs or facial area, autosomal recessive inheritance, onset in infancy, often complicated by genital hypertrophy , sweating, hirsutism of the head, black acanthosis, later development of diabetes, liver, renal insufficiency or cardiac hypertrophy, and acromegaly.
2. Localized scleroderma may cause confusion at the beginning of the disease, but the head and face are not the site of scleroderma, and the skin scleroderma is not easy to pinch with the underlying tissue, and there is no knife-mark distribution to help identify.
It needs to be differentiated from diseases such as syringomyelia, amyotrophic lateral sclerosis, and muscular dystrophy.
