diffuse angiokeratosis
Introduction
Introduction Ceramide trihexosidosis, implicitly inherited by X-linked. First discovered and reported by Fabry and Anderson (1898). The incidence rate is about 1/40 000, and the vast majority are male hemizygous. Various ethnic groups have been discovered, and many reports have been reported in China.
Cause
Cause
Ceramide triglycosides are complex glycolipids composed of ceramide and three hexose (2 galactose, 1 glucose) molecules. Under normal conditions, it is degraded by a-galactosidase to lactosylceramide and galactose. It is known that a-galactosidase has two types, A and B. The lack of type A enzyme activity is the cause of the disease. The lack of it can lead to the accumulation of triglycoside in nerve tissue, kidney and skin, and the emergence of systemic diffuse blood vessels. Symptoms of keratinoma, peripheral neuropathic pain and renal insufficiency. This enzyme gene is located at Xqz. The full-length cloning and sequencing of the eDNA has been completed. In 165 cases of Fabry disease, 75% of the gene mutations were found to be missense mutations or nonsense mutations.
Examine
an examination
Related inspection
Urinary protein red blood cell count (RBC) EMG electroencephalography
In addition to clinical symptoms such as paroxysmal acromegaly, skin specific damage and renal insufficiency, the diagnosis of the skin and the culture of fibroblasts and the determination of a-galactosidase activity are often required for diagnosis. Amniotic fluid cell culture for enzyme activity detection, can also be used for prenatal diagnosis or detection of female gene carriers.
[clinical manifestations]
The vast majority of patients are male, with only a few female homozygotes, but with milder symptoms. Generally starting from 4 to 8 years of age, first of all skin symptoms, usually in the lower abdomen, buttocks, around the umbilicus or genital skin, vasodilatation papules, small purpura or black spots, and some central areas gradually keratinized. Some patients have conjunctival vasodilation or corneal, crystal opacity. The skin is often sweaty and sebum secretion is reduced. Since then, numbness of limb paroxysmal pain has gradually appeared, and it often worsens with changes in temperature or physical labor, similar to sensory peripheral neuropathy, but generally no motor symptoms. Cardiac hypertrophy, valvular defect or conduction dysfunction may also occur in the heart. Among them, mitral stenosis or a small number of children may involve the central nervous system, cerebral insufficiency or cerebral ischemia, hemiparesis, speech difficulties, etc. The report lock is not complete. . Renal damage is a common manifestation of this disease, from early proteinuria, hematuria, polyuria to advanced renal failure can gradually appear, can also be expressed as pseudo-diabetes insipidus, but no response to pituitary antidiuretic hormone. Cases after onset of middle age are rare, clinical manifestations are mainly heart symptoms, angina pectoris, left heart hypertrophy and myocardial infarction often occur, and symptoms of renal insufficiency are extremely mild, and there are almost no symptoms of skin and peripheral nerve damage. Diagnosis More difficult, some people call it a heart variant. Generally, the disease course of children from childhood is developing rapidly, and most of them die of chronic renal failure before middle age. Late-onset cardiac variability progresses slowly and can survive to over 60 years of age.
[Laboratory Inspection]
There are mainly abnormal urine routines, including urinary protein and erythrocytosis, tube type, and increased blood urea nitrogen and other renal dysfunction.
[Electrophysiology check]
There were only slight changes in EEG and EMG, such as non-specific changes such as slower nerve conduction velocity and prolonged latency. The electrocardiogram showed a shortened PR interval and supraventricular tachycardia.
Diagnosis
Differential diagnosis
Diffuse keratosis needs to be distinguished from various hemangiomas below.
1. Mibelli vascular keratomas: Mibelli angiomatoma (angiokeratoma of mibelli) is autosomal dominant, with a history of frostbite in the family, which occurs in adolescence.
2. Fordyce vascular keratomas: Fordyce angiokeratoma (fordyce angiokeratoma) is also known as scrotal vascular keratomas.
3. Solitary vascular keratomas: solitary angiokeratoma (solitary angiokeratoma) was first reported in 1967 by Jmperial and Helwig and may be caused by trauma.
4. Localized vascular keratomas: Localized vascular keratomas (angiokeratoma circumscriptum) are rare.
