pigmentary disorders
Introduction
Introduction to pigmentation disorders Incontinentiapigmenti (Incontinentiapigmenti), also known as Bloch-sulzberger disease or Blohh-si-ments syndrome, is a hereditary disease with pigmented skin lesions after erythema, blisters, warts or inflammation. There are defects in the eyes, bones and central nervous system. basic knowledge The proportion of illness: 0.003% Susceptible people: no special people Mode of infection: non-infectious Complications: optic atrophy
Cause
Cause of pigmentation disorder
(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 pathogenic gene can be protected by another normal X gene, so the lesion is not serious, the survival rate is high, and the male has only one X gene. If it is a disease-causing gene, the lesion is heavier, often died in the palace, often with close relatives marriage and family genetic history.
Prevention
Pigment disorder prevention
The disease belongs to chromosomal diseases, and the cause of chromosomal abnormalities is unclear. It may have certain correlation with environmental factors, genetic factors, dietary factors, and mood and nutrition during pregnancy, so this disease cannot be directly prevented. Regular examination should be done during pregnancy. If the child has a tendency to develop abnormalities, chromosome screening should be done in time, and abortion should be performed in time to avoid the birth of the diseased child.
Complication
Pigment disorder complications Complications optic atrophy
The disease belongs to the chromosomal genetic disease, usually caused by the marriage of close relatives, and the inheritance of chromosomal diseases caused by the father, and the disease can form complications such as erythema, blisters, infection, and the skin integrity is destroyed, so the skin can be induced by scratching the patient. Bacterial infections or fungal infections, usually secondary to low constitution, or long-term use of immunosuppressive agents and fungal infections such as onychomycosis, such as concurrent bacterial infections may have fever, skin swelling, ulceration and purulent secretions, etc. which performed. Severe cases can lead to sepsis, which should be brought to the attention of clinicians.
Symptom
Symptoms of pigmentation disorder Common symptoms Mental retardation papules small head yellow vision red optic atrophy strabismus pigmentation plaque skin hemosiderin Shending atrophy
It occurs shortly after birth, rarely occurs after 2 months, and the damage is divided into 3 stages: erythema and bullae; papules and sputum lesions; pigmentation, which are irregular, overlapping and diverse.
The lesions are characterized by taupe and black-gray spots, which are linear, drop-shaped, thread-like and marble-like, and irregular in shape. They are often arranged in the trunk, upper arm, and thigh, before the appearance of pigmented spots. , often with bullae, Nissl's sign negative, one after another, after the blisters subsided, red smooth nodules and plaques can be seen, blue to brown splatter-like pigmentation spots can appear in the skin lesions, and the color spots can last for several years. It gradually subsided until it was 20 to 30 years old, and some were accompanied by atrophy and hardening.
Children often have 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, central nervous system can also be affected, showing mental retardation, microcephaly, epilepsy, spastic limbs Paralysis, short arms, short legs, etc.
Examine
Examination of pigmentation disorders
Histopathology: The blister is located in the epidermis with the formation of a sponge. There are many eosinophils. The epidermis between the vesicles often contains small groups of epidermal cells, which are arranged in a turbine shape and scattered large eosinophilic cytoplasmic keratinocytes. The dermis is infiltrated like the epidermis, and the verrucous hyperplasia shows irregular papillary hyperplasia and hyperkeratosis. The hyperplasia of the dermis is increased in the dermis, containing a large amount of melanin particles, and the basal layer of melanin particles is reduced. , there is vacuolar degeneration.
Diagnosis
Diagnostic identification of pigment disorders
diagnosis
According to the clinical manifestations, the characteristics of skin lesions and histopathological features can be diagnosed.
Differential 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, no tooth and eye damage.
2. Depigmentation pigment incontinence: more common girls, colorless and spotted, 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 dripping, 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.
