关键词: Bloom综合征

Abstract:

The patient 1 was a 9-year-old boy of Hui nationality who presented with recurrent erythema over the face and auricles for 8 years. Telangiectasis and erythema developed on both cheeks 7 months after birth, which gradually spread to the auricles, forearms and both legs with a mild ichthyosiform appearance. At 5 years of age blisters and erosions appeared on the lips, which occurred and were aggravated after exposure to strong sunlight during summer and spontaneously subsided or disappeared in winter. The patient 2, a 3-year-old boy who was the younger brother of the patient 1, presented with recurrent erythema for 2 years. At 1 year of age, erythema began to appear on both cheeks and gradually spread to the buccal region, with mild pruritus and scaling. Meanwhile, the skin of both legs was dry and scaling and gave an ichthyosiform appearance. The lesions usually appeared in early summer and gradually subsided in winter. No abnormality was found by systemic, laboratory, pathological or other auxiliary examination. Chromosomal abnormality was undetected. Body height was normal. The parents of the two siblings were first cousins. Both children were diagnosed with Bloom's syndrome.

Key words: Blooms syndrome