- 期刊
- OpenAccess
先天性魚鱗癬之眼部表徵―病例報告
Ocular Manifestation of Collodion Baby-Case Report
摘要
先天性魚鱗癬樣皮膚病是一類少見的遺傳性疾病，病嬰除了典型的皮膚病灶外，有部份病例會合併有眼部的病變，其中又以眼瞼外翻和角膜病變最常見，其它少見的眼部變化有眼瞼炎，結膜增生，兔眼，白內障和視神經萎縮等。本篇報告一先天性魚鱗癬樣皮膚病病例，出生時除了全身皮膚增厚及佈滿鱗屑外，並有下眼瞼外翻，睫毛缺失，結膜充血等眼部病變，經向皮膚病理組織切片檢查，診斷為板層狀魚鱗癬，即俗稱的火棉膠樣嬰兒。
關鍵字
無資料並列摘要
The collodion baby (lamellar ichthyosis) is a rare keratinizing disorder that is inherited as an autosomal recessive trait. Affected infant is covered at birth by a luck, taut membrane resembling oiled parchment or collodion which is subsequently shed. Ocular changes in collodion baby are rare; eyelid erythema with scaling, lagophthalmos, ectropion and conjunctivitis may occur. We present a newborn baby with diffuse thickening of skin, scaling over head, trunk and four limbs; prominent hyperkeratotic changes of hands and feet. Fissures over intertrigenous skin fold, such as axilla popliteal fossa, ankles were also noted. The ocular condition revealed absence of cilia in both lower eyelids, mild everted left upper eyelid and lagophthalmos, congested conjunctiva of both eyes. Skin biopsy at right thigh showed lamellar ichthyosis with marked hyperkeratosis, mild thickening of granular layer and acanthosis.