Plug tooth

Introduction The pin-shaped tooth is a clinical symptom caused by certain diseases, causing the tooth to grow into a plug shape. The tibial tooth is one of the clinical manifestations of pediatric pigmentation disorder. Incontinentia pigmenti is also known as pigment incontinence, Bloch-Sulzberger syndrome, Bloch-Siemens syndrome, and melanosis coria degenerarativa. It is a rare compound genetic syndrome with characteristic skin changes that can be associated with eye, bone and central nervous system malformations and abnormalities.

Cause

The symptoms can be diagnosed according to the clinical typical skin lesions and its development process, combined with the obvious increase of blood granulocytes. Further diagnosis can be performed through skin tissue biopsy.

(1) Causes of the disease

The condition is inherited by autosomal dominant or concomitant.

(two) pathogenesis

Women have two X chromosomes, so the condition is not serious, and the male abnormal gene is located on only one X chromosome, so the condition is serious and often died in the fetal period. Therefore, it is more common in female patients. Domestic Zhang Yuchang et al reported that there was one boy in a group of cases. Carney reported a female to male ratio of 97:3, with abnormal chromosome analysis in 7/18 patients. It has been reported in China that one patient was exposed to radiation during the embryonic period, causing a genetic mutation that occurred after 2 weeks of birth.

an examination

Related inspection

X-ray lipiodol angiography

This disease is a disease of abnormal skin pigmentation.

Skin damage

(1) Skin damage performance: Most of the skin lesions of this symptom are present at birth, and the latest occurs at 3 months after birth. The inflammatory phase can occur during the fetal period and there is no progression after birth. Initially erythema, papules, followed by herpes or bullae, from mung bean to broad bean size, clear content, blister wall tension, striped or strip-like dense arrangement, not distributed according to skin lines or nerve segments. Herpes, bullae, etc. last for several months and appear repeatedly. Occurs in the side of the trunk, around the breast and limbs, etc., herpes often does not rupture or rupture after some oozing, herpes absorbs or forms an induration, and then remains pigmented spots.

Symptoms can occur in the back of the hands and feet, especially the fingers and toes.

Pigmentation spots can be the only abnormalities, and can also be manifestations of primary or inflammatory lesions. The forms of pigmented spots are peculiar and diverse, and are often irregularly splashed, swirled or map-like. Its color is gray-blue, dark gray-blue, yellow-brown or dark brown. The pigmentation is deepening before the age of 2, and then gradually becomes shallower with age, until it disappears. Pigment changes can last for many years, and even disappear until 20 to 30 years old.

(2) Staging: The clinical damage of this symptom can be divided into three stages. About 1/3 of the cases have a typical development process. In most cases, the order of the three stages is irregular, which tends to become overlapping. A few have only pigment spots and no stage I and II. change.

Stage I: erythema, papules, blister formation or short-term herpes, usually starting at birth, or within 2 weeks after birth, rarely occurring after 1 year of age.

Phase II: The formation of a wart or mossy rash begins 2 to 6 weeks after birth.

Phase III: Pigmentation period, starting from the 12th to the 26th week.

2. Eye lesions: About 1/3 of the cases have eye abnormalities, such as congenital cataract, optic atrophy, optic discitis, retinal hemorrhage, pigmentation, nystagmus, blue sclera, strabismus, etc.

3. Abnormal nervous system: About half of the cases may have different degrees of neurological abnormalities, including mental retardation, spastic paralysis and epilepsy.

4. Other manifestations: delayed teeth, pin-shaped teeth, abnormal formation of permanent and permanent crowns, sparse hair, hair loss on the top of the head, thin nails with vertical and horizontal stripes. In addition, rare sorghum arch, cleft palate and cleft lip, spina bifida, gnome, microcephaly and so on.

Differential diagnosis

Herpes blisters should be distinguished from bullous epidermolysis, childhood pemphigoid, etc. The pigmentation phase should be differentiated from Franceshetti-Jadassohn syndrome, which is reticular pigmentation, no inflammatory changes, and With excessive keratosis and vasodilation, sweating changes, both sexes can occur.

Hullous pemphigoid is a bullous disease that is more common in the elderly. The blister wall is thick and not easy to break. Histopathology is a subepidermal bullous. Immunofluorescence showed the basement membrane with immunoglobulin self-deposition. The course of the disease is chronic and the prognosis is good. According to the characteristics of vesicles, mild to moderate itching, combined with histopathological findings and immunofluorescence, is not difficult to diagnose.

Juvenile pemphigoid is a chronic skin disease characterized by subepidermal blistering. According to the characteristics of vesicles, mild to moderate itching, combined with histopathological findings and immunofluorescence, is not difficult to diagnose.

This disease is a disease of abnormal skin pigmentation.

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