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Home > West Medicine > Other Specialties > Dermatology
百科

Congenital poikiloderma vasculare atrophicans

皮肤科

Common symptoms

隐睾、甲营养不良、无月经来潮、日光照射引起皮肤过敏、网状色素沉着斑

The pathology of disease

Congenital poikiloderma vasculare atrophicans (Rothmund-Thomson) is poikiloderma; short stature; juvenile cataracts; skeletal; osteosarcoma risk; RECQL4; genetics.

Symptoms

Facial poikiloderma; photosensitivity; short stature; juvenile cataracts; skeletal anomalies; osteosarcoma risk; autosomal recessive

Causes

RECQL4 helicase mutation; autosomal recessive; premature aging.

Treatment

Sun protection; screen for osteosarcoma/cataracts; supportive; dermatology/genetics/oncology

Dept

Dermatology / genetics / ophthalmology / orthopedics / oncology.

Warm reminder: Health education reference only; seek care at regular hospital.