关键词: blau 综合征, 病理学

Abstract: A 4-year-old girl presented with generalized papules, erythema, desquamation, subcutaneous nodules around large joints, as well as a 3-year-history of progressive eye damage. Three months after her birth, papules developed on the lower limbs, and gradually spread to involve the whole body. Eye damage appeared after a high fever and she was diagnosed with keratoleukoma, old iritis, and posterior synechia. Physical examination revealed sharply demarcated corneal opacity, shallow anterior chamber, obscure irides, and posterior synechia; pupils were not round. No superficial lymphadenectasis was observed. Dermatological examination showed ichthyosis-like coarse skin with generalized papules, erythema and desquamation, increased wrinkles and absence of sweat. Skin temperature was higher than normal. There were soft, irregularly sized, non-tender, movable subcutaneous masses at the wrist, ankle and knee joints without inflammation or warmth. Type-B ultrasonography of both eyes disclosed vitreous opacification, posterior detachment of vitreous, extravasation at the posterior vitreous membrane, and decreased intraocular pressure. Histopathology of lesions on the back, waist, and back of hands as well as subcutaneous nodules on the wrists showed epidermal acanthosis and infiltration with a large number of histiocytes, foam cells and multinucleated giant cells in the dermis. No abnormal findings were observed from other examinations. This case was diagnosed as Blau syndrome, which is an autosomal dominant inherited disease; currently, there is no effective therapy for it.

Key words: blau syndrome, pathology