豪猪状鱼鳞病一例诊断与治疗观察

中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (11): 801-804.

豪猪状鱼鳞病一例诊断与治疗观察

张锡宝¹,李雪梅²,孙建方³,何玉清¹,田歆¹,罗权¹,徐晓²,李常兴⁴,周欣¹,李薇¹,崔丽²,唐庚云²

1. 广州市皮肤病防治所
2.
3. 南京中国医学科学院北京协和医学院皮肤病研究所
4. 东莞市慢性病防治院

收稿日期:2010-02-03 修回日期:2010-04-10 出版日期:2010-11-15 发布日期:2010-11-10
通讯作者: 张锡宝 E-mail:zxibao@126.com
基金资助:
广东省自然科学基金资助项目;广州市卫生局重点资助项目

Diagnosis and treatment of porcupine-like ichthyosis: a case report

Received:2010-02-03 Revised:2010-04-10 Online:2010-11-15 Published:2010-11-10

摘要/Abstract

摘要：

患儿男，10岁。因全身出现红色角化性扁平丘疹及褐黄色钉状突起性角化性斑块来我所就诊。皮肤科检查：头面部、躯干、四肢大片红色角化斑块基础上疣状、钉样突起，表面结褐黄色油腻痂，皮损多融合，如“豪猪”样外观。背部皮损组织病理学检查示角化过度，局部柱状角化不全，棘层增生肥厚，角质层偶见棘突松解性角化不良细胞，真皮乳头不规则向上增生，浅层血管周围淋巴组织细胞浸润，根据病理结果诊断为豪猪状鱼鳞病。给予口服阿维A胶囊及外用0.1%的维A酸乳膏持续治疗8年，起始剂量0.5 mg?kg-1?d-1，最大剂量1 mg?kg-1?d-1。治疗期间定期监测患儿肝肾功能，血脂及身高、体质量，不良反应除皮肤黏膜干燥外，其他无异常。

关键词: 豪猪状鱼鳞病, 毛囊角化病, 维A酸

Abstract:

A 10-year-old boy presented with a 3-year history of erythematous flat keratotic papules and brown-yellow, nail-like prominent keratotic plaques all over the body surface. Dermatological examination showed verrucous or nail-like prominence over multiple erythematous keratotic plaques on the head, face, trunk and limbs. The lesions, most of which confluenced, were covered with brown-yellow and greasy crusts, and gave a porcupine-like appearance. Skin biopsy of lesions from the back revealed epidermal hyperkeratosis, focal columnar parakeratosis, acanthosis, few acantholytic and dyskeratotic cells in stratum corneum, irregular upward proliferation of dermal papilla cells, and a superficial perivascular lymphocytic infiltration. A diagnosis of ichthyosis hystrix was established based on the histopathological findings. The boy was treated with oral acitretin and topical 0.1% acitretin cream for 8 years. The initial and maximum dose of oral acitretin was 0.5 mg?kg-1?d-1 and 1 mg?kg-1?d-1, respectively. Liver and kidney function, body height and weight were examined during the treatment, and no side effect was observed except for skin xerosis.

Key words: Acitretin, ichthyosis hystrix, Darier’s disease

张锡宝李雪梅孙建方何玉清田歆罗权徐晓李常兴周欣李薇崔丽唐庚云. 豪猪状鱼鳞病一例诊断与治疗观察[J]. 中华皮肤科杂志, 2010, 43(11): 801-804.

参考文献

[1] Zhang XB, Luo Q, Li CX, et al. Clinical investigation of acitretin in children with severe inherited keratinization disorders in China. J Dermatolog Treat, 2008,19(4): 221-228. [2] Yusuf, S. M. BS MB, MSc, Ichthyosis hystrix Curth–Macklin type in an African girl .International Journal of Dermatology.2009, 48 (12): 1343 – 1345. [3] Ollendorff-Curth H, Allen FH Jr, er al. Follow-Up of a Family Group Suffering from Ichthyosis Hystrix Type Curth-Macklin. Humangenetik,1972, 17(1):37-48. [4] Gülzow J, Anton-Lamprecht I. Ichthyosis hystrix gravior typus Rheydt: anotologic -dermatologic syndrome (author's transl). Laryngol Rhinol Otol (Stuttg),1977, 56 (11):949-955. [5] Penrose LS, Stern C. Reconsideration of the Lambert pedigree (ichthyosis hystrix gravior). Ann Hum Genet, 1958,22(3):258-283. [6] Wang WH, Li LF, Zhang Q, et al. Ultrastructural features of ichthyosis hystrix strongly resembling Lambert type. Br J Dermatol, 2007,156 (5):1027-1031. [7] van Geel M, van Steensel MA, Küster W, et al. HID and KID syndromes are asso- ciated with the same connexin 26 mutation. Br J Dermatol, 2002 ,146(6):938-942. [8] Sprecher E, Ishida-Yamamoto A, Becker OM, et al. Evidence for novel functions of the kerain tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol, 2001,116(4):511-519. [9] Richardson ES, Lee JB, Hyde PH,et al. A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma of the Ichthyosis Hystrix Curth–Macklin Type. J Invest Dermatol, 2006,126(1):79-84. [10] Au WY, Ma SY, Yeung CK,et al.A Patient with Congenital Ichthyosis Hystrix (Disseminated Congenital Naevus) and Acute Lymphoblastic Leukaemia. Leuk Lymphoma, 2003, 44(1):209-212. [11] Ersoy-Evans S, Sahin S, Mancini AJ et al. The acanthosis nigricans form of epidermal nevus. J Am Acad Dermatol, 2006, 55(4):696-698. [12] 何玉清,张锡宝,曾抗. 大疱性鱼鳞病及维A酸相关作用研究进展.国际皮肤性病学杂志, 2006,32(6):377-379. [13] Shimizu H, Tan Kinoshita MT, Suzuki H. Darier’s disease with esophageal carcinoma Eur J Dermatol. 2000,10(6):470-472. [14] Kriner J, Montes LF. Gigantic ichthyosis hystrix. J Am Acad Dermatol, 1997, 36(4):646-647. [15] Goldberg EI, Lefkovits AM, Sapadin AN. Zosteriform Darier’s Disease versus Acantholytic Dyskeratotic Epidermal Nevus.J Cutan Pathol, 2002, 29(1):52-54. [16] Sakuntabhai A, Dhitavat J, Burge S, et al. Mosaicism for ATP2A2 mutations causes segmental Darier's disease. J Invest Dermatol, 2000, 115(6):1144-1147. [17] Huh WK, Fujiwara K, Takahashi H.Congenital acantholytic dyskeratotic epider- mal naevus following Blaschko’s line versus segmental Darier’s disease Eur J Dermatol. 2007, 17(2): 130-132.