Introduction
Pigment disorder(incontinentia pigmenti) also known as Bloch-sulzberger disease or Blohh-si-ments disease syndrome. It is a hereditary disease. After erythema, blisters, warts or inflammation changes, pigmented skin lesions may be present, which may be associated with defects in the eyes, bones, and central nervous system.
Cause
(1) Causes of the disease
It is a sex-linked X-linked dominant genetic disease, more women than men.
(two) pathogenesis
The abnormal gene of female X-linked dominant inheritance is only located in one of the two X chromosomes, and the disease-causing gene can be protected by another normal X gene, so the lesion is not serious and the survival rate is high. There is only one X gene in men. If it is a disease-causing gene, the lesion is heavier and often dies in the uterus. There are often close relatives married and family genetic history.
symptom
It occurs shortly after birth and rarely occurs after 2 months. The damage is divided into three phases: erythema and bullae; papules and sickle lesions; pigmentation. They occur irregularly, overlap each other, and are diversified.
The lesions are characterized by taupe and black-gray spots, which are irregular in shape such as lines, drops, threads, and marbles. They are arranged in an orderly manner and are often distributed in the trunk, upper arms, and thighs (Fig. 1). Before the appearance of pigmented spots, there are often bullae, Nissl's sign is negative, one after another, after the blisters disappear, red smooth nodules and plaques can be seen. Blue to brown splatter-like pigmentation spots can appear in the skin lesions. Color spots can gradually fade after several years, until 20 to 30 years old, and some are accompanied by atrophy and hardening.
Children with pseudo-alopecia areata, nail dysplasia, nail defect, nail deformity, eye damage accounted for about 30%, showing cataract, strabismus, optic atrophy, blue sclera, exudative choroiditis, etc.; bone abnormalities are rare Such as and refers to (toe), multi-ribs, osteoma, partial atrophy and tooth defects; delayed or partially toothless. The central nervous system can also be affected, showing mental retardation, microcephaly, epilepsy, paralyzed limb paralysis, short arms, short legs and so on.
According to the clinical manifestations, the characteristics of skin lesions and histopathological features can be diagnosed.
diagnosis
1. Franceschetti-Jadassohn syndrome Some people think that the disease is a heterogeneous pigment incontinence, the color is reticular, no water droplets, early no blister, sickle damage. There are also no tooth and eye damage.
2. Depigmentation pigment incontinence is more common in girls, colorless and opaque, only color spots, no blister in the early stage, no inflammation, no family history.
3. Pigmented urticaria Also known as mastocytosis, the pigmented spots of the disease are not in the form of water droplets, stimulating pigment spots can appear wheal, skin scratch marks positive, histopathology shows that a large number of mast cells can be seen in the dermis.
complication
Currently there are no related content description.
treatment
(a) treatment
Pigment spots can be regressed and generally do not require treatment. Corticosteroids can be applied to the early period of vesicular inflammation.
TCM treatment: the inflammatory phase should be detoxification and cooling blood, and the detoxification and cooling blood soup should be added or subtracted. In the later period, the method should be spleen and dehumidification, and the spleen and dehumidification soup should be added or subtracted.
(two) prognosis
Color spots can gradually fade after several years, until 20 to 30 years old, and some are accompanied by atrophy and hardening.
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