macular albinism
Introduction
Introduction to plaque albinism Plaque albino (mice disease, white spot disease, piebaldism) is also known as patterned leuttama (partialalbinism), part of the whitening disease (partialalbinism), Chinese medicine believes that the disease belongs to the white bark, only on the front of the person weighing leukoplakia ( Whiteforelock), clinically rare. basic knowledge The proportion of illness: this disease is rare, the incidence rate is about 0.0001% Susceptible people: no specific people Mode of infection: non-infectious Complications: ataxia, deafness
Cause
The cause of plaque albinism
(1) Causes of the disease
The disease is a congenital leukoplakia without melanocytes, which is autosomal inherited and completely penetrative.
(two) pathogenesis
It is caused by the decreased function of c-kit (mast cell stem cell growth factor), which hinders the differentiation of melanocytes.
Prevention
Plaque albinism prevention
There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.
Complication
Plaque albino complications Complications, ataxia, deafness
Some are accompanied by ataxia, deafness and mental retardation.
Symptom
Symptoms of plaque albinism Common symptoms Whole body hair is grayish white deafness Frontal leukoplakia Ataxia Intelligence reduction
After birth, there are leukoplakia in the anterior crotch, which are interlaced with black hair. The affected part is white, eyebrows and eyelashes can be white. The size and shape of the white spot generally do not change with age.
The typical feature of the disease is frontal leukoplakia, 80% to 90% may be associated with frontal white hair, triangular or diamond-shaped, symmetrical, located in the center of the forehead or slightly to one side, can be extended down to the base of the nose, or Seen before the lower jaw, the abdomen and abdomen, the upper limbs can see asymmetrical white spots; occasionally there are white spots on the cheeks, and the hair at the skin lesions also becomes white. Very few patients have only white hair on the occipital area, but no skin white spots, it may be Varieties of mottled disease, some patients have pigmentation spots on the back of the hands and feet, island-like normal skin in the center of diffuse leukoplakia, and pigments around the white spots are thick, some people may be accompanied by unilateral iris pigmentation, fundus whitening and macular dysplasia , strabismus and amblyopia, and some with ataxia, deafness and mental retardation, etc., no self-consciousness.
Examine
Examination of plaque albinism
Histopathology: There is no melanin in the skin of the lesion, or there are a few melanocytes, and its morphological variation. Under the electron microscope, melanocytes contain pigment precursors and abnormal pigment precursors.
Diagnosis
Diagnosis and identification of plaque albinism
According to the distribution characteristics of white spots occurring after birth, the diagnosis is not difficult.
It should be differentiated from vitiligo, vitiligo is a congenital disease, the incidence is late, the damage is not as extensive as the disease, and the pigmentation of the leukoplakia is more obvious. If there is widening of the eyelid, dysplasia or deafness, Waardenburg syndrome should be considered. .
