Speaking of pigmentary incontinence, many people may not know what kind of disease it is. In fact, incontinence pigmentosa is a skin disease that often occurs in infants and young children, and it mainly occurs in baby girls. This is a genetic disease that is generally common in baby girls, is not too serious, and does not affect the health of baby girls. normal life, but if it happens to a baby boy, it can be fatal.
1. What to do if you have incontinence of pigment?
Mr. Yi, a reader from Hebei, asked: My child is 1 month old and suffers from incontinence of pigment. Now he has erythema on his trunk. How to deal with skin abnormalities? Will pigmentation need to be removed with laser in the future?
Li Zhimiao, deputy chief physician of the Department of Dermatology and Venereology of Peking University First Hospital, answered: Incontinence pigmentosa is a genetic disease that affects multiple organs. The disease can affect the skin, brain, fundus, etc. For the skin manifestations of pigmentary incontinence, the treatment principles are different in different periods. The main purpose of the erythema and blister stage is to protect and prevent infection. You can extract the blister fluid from larger confluent blisters and use topical astringent drugs such as zinc oxide oil or boric acid solution. If infection is suspected, antibiotic ointment should be added, such as fusidic acid or moxacillin. Pilocin ointment. During the wart-like hyperplasia stage, topical retinoic acid ointment can be used, combined with salicylic acid ointment or urea ointment to soften the cuticles. In the pigmentation stage, although pigmentation seriously affects the appearance, most of it will fade before puberty to the age of 20, so treatment is not recommended. Laser is not very effective in treating pigmentation in incontinence pigmentosa, so it is not recommended. ▲
2. The cause of pigmentary incontinence
1. The pathogenesis
is still unclear. Some people think that the epidermis cannot retain pigment. Chromoblasts are congenitally permeable or basal cells cannot retain melanin. Abnormal changes in skin pigmentation are related to congenital abnormal terminal configurations of the nervous system. There are also factors such as viral infection in the mother during pregnancy, congenital vitamin utilization defects, etc. There are different opinions and there is no consensus.
2. Genetics
A survey of 400 cases of this disease showed that 32 out of 55 families had a positive family history and more than two members were affected. The disease is hereditary. Be recognized. Due to the huge disparity in the ratio of male to female patients (the male to female ratio is 1:35), the conclusion of X-linked dominant inheritance was drawn. 50% of the disease-causing genes carried by mothers will be passed on to their children: male fetuses carrying abnormal genes are more likely to die in utero; female fetuses that are heterozygous have relatively less impact, so the birth rate is higher, so most of the clinical cases are female. The expected risk for offspring of female patients is: female patients, normal female babies, normal male babies, and aborted male babies each account for 1/4.
3. Pathology
A large number of eosinophils can be seen in the blister in the erythema stage of the skin lesions, thickening of the cornea in the verrucous hyperplasia stage, papillomatous hyperplasia, and pigment in the dermis in the dyschromic stage. There is a large amount of melanin in the cells. Cerebral cortical atrophy or cerebellar malformation. The cells in the basal layer of the bulbar conjunctiva cannot retain pigment, and the retinal necrosis results in nodular hyperplasia of the retinal pigment epithelium.
3. Symptoms of pigmentary incontinence
1. Skin symptoms of pigmentary incontinence
It can be roughly divided into 4 stages: 90 patients show erythema and blisters in the early stage after birth After about 1-5 weeks, the sexual inflammation turns to the second stage, which manifests as papules, pustules to hyperkeratotic stripes, also known as the verrucous stage; in the third stage, dark brown to light gray spiral pigment spots appear on the trunk and limbs. It can also be seen from 3-6 months after birth and at one year old. End-stage features include loss of hyperpigmentation and atrophic scarring.
About 7% of patients have fingernail malnutrition for unknown reasons. Skin symptoms in each stage can affect more than 1/3 of the scalp, and patients will become bald in the final stage. In a few cases, some sweat glands are underdeveloped.
2. Nervous system damage in incontinence pigmentosa
The following central nervous system symptoms are rare, epileptic seizures l3.3, mental retardation l2.3, spastic paralysis 11.4, structural Exception 7.5. Long-term follow-up shows that most people with structural abnormalities of the central nervous system or epileptic seizures within 4 weeks of birth have symptoms of severe motor and intellectual impairment. Some patients' pneumoencephalography shows brain atrophy or ventricular enlargement after hydrocephalus.
Avrahami (1985) tracked the brain CT changes of a newborn with this disease who had convulsions. It initially showed focal edema and showed widespread atrophy two years later. Another 11-year-old child with this disease had a small head and left spastic hemiparesis. Low brain CT also shows widespread brain atrophy.
3. Ocular signs of pigmentary incontinence
Most of the ocular signs in patients aged 25-35 years old are serious, and they are more common on one side, including strabismus, blindness, congenital cataracts, microphthalmia, Blue sclera, superficial keratitis, iris malformation, vitreous opacity, uveitis, chorioretinitis, nystagmus, myopia, retinal folds or hemorrhage, optic atrophy, etc.
4. Dental damage of pigmentary incontinence
2/3 of children after reaching one year of age have dental abnormalities. Typical partially or completely edentulous crowns are pile-shaped or cone-shaped; tooth development or eruption is blocked resulting in widening of the interdental space. Permanent teeth are equally affected as are deciduous teeth. High palatal arches and hemorrhagic bone cysts have also been reported in rare cases.
Male fetuses often die in utero, so female patients are more common. It usually begins about 1 week after birth. It can be divided into 3 stages:
(1) Bullous stage: bullae are often arranged in strips, mostly on the trunk and proximal limbs, and may be accompanied by red nodules and plaques that can last for several days or 1 ~2 months. Peripheral blood eosinophils increased.
(2) Verrucous hyperplasia stage: It is red or blue nodules or plaques with linear and wart-like proliferation of skin lesions on the hands and feet.
(3) Pigmentation stage: It is gray-black to brown pigmentation spots with strange shapes such as splashing water, swirls, lines, etc. The pigmentation can last for several years and then disappear after 10 to 20 years old. , the three stages of skin lesions can overlap. Others include pseudoalopecia areata, congenital cataracts, epilepsy, intellectual disability, dental malformations, etc.
4. Treatment of pigmentary incontinence
1. No special treatment is required
There is currently no specific drug to treat pigmentary incontinence. It mainly occurs in female infants. On the body, it usually appears soon after birth. At first, erythema and bullae appear on the limbs, and then wart-like lesions appear, and finally pigmentation forms. These precipitated pigments will slowly disappear on their own after a few years. Under normal circumstances, pigmentary incontinence does not require special treatment, because it will slowly subside and get better after the child is 2 years old, and will be basically unnoticeable by adulthood.
2. Treatment during the inflammatory phase
In most cases, pigmentary incontinence does not require treatment, as long as the waiting period slowly subsides, but some children will develop secondary symptoms. Infection and acute inflammation require treatment during this period. Adrenocortical hormones can be used to treat acute inflammation. In addition, if you want to treat the remaining pigment spots, you can treat them by applying 3-hydroquinone cream externally, or you can also try oral or intravenous Inject vitamin C.