Congenital vascular atrophic cutaneous heterochromia

Introduction to congenital vascular atrophic cutaneous heterochromia Congenital poikilodermaatrophicansvascularesyndrome, also known as Rothmund-Thomson syndrome, is characterized by skin atrophy, brown-red pigmentation, telangiectasia, and congenital cataract. basic knowledge The proportion of illness: 0.0006% Susceptible people: young children Mode of infection: non-infectious Complications: cryptorchid cataract

Congenital vascular atrophic cutaneous heterochromia

(1) Causes of the disease

The cause is unknown, it is autosomal recessive inheritance, there are often many patients in the family, more women than men, the previous generation often has a history of close relatives marriage.

(two) pathogenesis

The pathogenesis is still unclear and may be autosomal recessive.

Congenital vascular atrophic cutaneous heterochromia prevention

Sun exposure should be prevented.

Congenital vascular atrophic cutaneous heterochromia complications Complications cryptorchid cataract

Some patients have gonad dysfunction, internal and external genital dysplasia, men may have cryptorchidism, women without menstruation.

Congenital vascular atrophic cutaneous heterochromia symptoms Common symptoms Sun exposure causes skin allergies Skin atrophy and pigmentation Reticular pigmentation spots Skin heterochromia Skin Calcium Hair thin edema cryptorchidism Menstrual cramps A malnutrition

It develops from 3 to 6 months after birth. On the cheeks, before and after the ears and on both sides of the buttocks, red edematous patches appear on the extremities of the extremities, followed by telangiectasia, punctate or reticular pigmentation, which is accompanied by skin atrophy. Skin color changes such as discoloration spots.

Children are sensitive to light, and tend to be bullied in the light. 40% of them have cataracts at 3 to 6 years old. Some patients have corneal degeneration, hair, eyebrows, and thin eyelashes. About 25% of patients have poor growth and a rough surface. Hypertrophy, with mediastinum, about half of patients have congenital bone development defects or deformities, some patients have gonad dysfunction, internal and external genital dysplasia, men may have cryptorchidism, women without menstruation.

Examination of congenital vascular atrophic cutaneous heterochromia

There is currently no special examination method for this disease, mainly for routine dermatological examination.

Diagnosis and diagnosis of congenital vascular atrophic cutaneous heterochromia

According to the clinical manifestations, the characteristics of the lesions can be diagnosed.

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