Chan Yuin-Chew, Tay Yong-Kwang, Tan Lawrence Kang-Seng, Happle Rudolf, Giam Yoke-Chin
National Skin Center, Singapore.
Pediatr Dermatol. 2003 Sep-Oct;20(5):421-6. doi: 10.1046/j.1525-1470.2003.20511.x.
Harlequin ichthyosis is a rare and severe congenital erythrodermic ichthyosis characterized at birth by hyperkeratotic plates covering the entire body, ectropion, eclabium, poorly developed ears, and contractures of the hands and feet. Two Chinese children, a 2-year-old boy and an 11-year-old girl, presented with these classic features as well as alopecia and loss of eyebrows and eyelashes. The boy was small for his age and was found to have hypothyroidism at the age of 18 months; he is currently on thyroxine replacement therapy. At 6 years of age, the girl developed symmetrical polyarthritis associated with positive rheumatoid factor and radiologic evidence of erosive arthritis, suggestive of juvenile rheumatoid arthritis. She received prednisolone, nonsteroidal anti-inflammatory drugs (NSAIDs), and subsequently methotrexate for her arthritis, with clinical and radiologic improvement. Early therapy with oral retinoids in both children accelerated shedding of the hyperkeratotic plates as well as improved ectropion and eclabium. There was no major adverse reaction to oral retinoids. The development of juvenile rheumatoid arthritis in survivors with harlequin ichthyosis has not been previously described. The use of prednisolone and NSAIDs in the girl did not affect the skin condition, but the addition of methotrexate led to a decrease in erythema. The association with autoimmune disease is probably coincidental. The psychosocial impact of this severe lifelong disease on the two families was enormous. Early retinoid therapy may improve the disorder and help increase survival rates. A multidisciplinary approach, including psychosocial support of the affected families, is vital in the management of this lifelong disease.
丑角样鱼鳞病是一种罕见且严重的先天性红皮病型鱼鳞病，出生时的特征为全身覆盖有角化过度的鳞屑、睑外翻、唇外翻、耳部发育不良以及手足挛缩。两名中国儿童，一名2岁男孩和一名11岁女孩，呈现出这些典型特征，同时伴有脱发以及眉毛和睫毛缺失。该男孩身材低于同龄人，18个月大时被发现患有甲状腺功能减退症；他目前正在接受甲状腺素替代治疗。6岁时，该女孩出现对称性多关节炎，类风湿因子呈阳性，并有侵蚀性关节炎的放射学证据，提示幼年类风湿关节炎。她接受了泼尼松龙、非甾体抗炎药（NSAIDs）治疗，随后使用甲氨蝶呤治疗关节炎，临床症状和放射学表现均有改善。两名儿童早期口服维甲酸治疗加速了角化过度鳞屑的脱落，同时改善了睑外翻和唇外翻。口服维甲酸未出现重大不良反应。丑角样鱼鳞病幸存者中出现幼年类风湿关节炎此前尚无报道。女孩使用泼尼松龙和NSAIDs并未影响皮肤状况，但加用甲氨蝶呤后红斑有所减轻。与自身免疫性疾病的关联可能是巧合。这种严重的终身疾病对两个家庭的心理社会影响巨大。早期维甲酸治疗可能改善病情并有助于提高生存率。多学科方法，包括对受影响家庭的心理社会支持，对于管理这种终身疾病至关重要。
