Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family
Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family
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DOI：
10.1016/j.annder.2010.02.002
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发表时间：
2010-04-01
影响因子：
0.9
通讯作者：
Nouira, R.
中科院分区：
文献类型：
--
作者：
El Amri, I.;Mamai, O.;Nouira, R.
背景- 点状掌跖角化病（PPPK），又称Buschke-Fischer-Brauer病，是一种罕见的遗传性皮肤病，具有常染色体显性遗传和可变的遗传率。其分子基础仍然未知。发现两个位点与该疾病连锁：一个在15 q22，另一个在8 q24。我们报告了一个突尼斯家族PPPK的临床和遗传特征。- 通过先证者确定了一个患有PPPK的突尼斯家庭。尽可能对每例患者进行病史询问、体格检查、组织病理学检查和采血提取DNA。- 本研究纳入了17例患者。年龄范围为15至81岁，性别比为3.2 m/f。病变出现在10至65岁之间，平均28岁。临床上，病变范围从手掌上的少量角化性丘疹到手掌和/或足底表面斑块中的病变合并。多汗症、色素减退斑和指甲营养不良常相关。在所有患者中，组织病理学检查显示表皮增厚，致密的角化过度覆盖在小而明显的凹陷表皮区域上。机械措施和角质层分离药膏证明是无益的。8号和15号染色体的基因分型以及LOD评分证实了与15号染色体上的可疑位点的遗传连锁，所讨论的位点的间隔减小到3.26Mb。该区域的侧翼是标记D155987和D155153。- 我们对该家族的研究证实了KPP-BFB的经典特征，并证明了几种相关的临床体征，其意义将在后续研究中确定。进一步的筛选研究以确定感兴趣区域的突变基因将有助于我们了解这种疾病的分子基础，并有望提出合适的治疗方法。(C)2010年Elsevier Masson SAS。All rights reserved.
Background. - Punctate palmoplantar keratoderma (PPPK), or Buschke-Fischer-Brauer's disease, is a rare form of genodermatosis with autosomal dominant transmission and with variable penetrance. Its molecular basis remains unknown. Two loci were found to be linked to this disease: one on 15q22 and the other on 8q24. We report the clinical and genetic characteristics of PPPK in a Tunisian family.Patients and methods. - A Tunisian family with PPPK was identified through a proband. As far as possible, history taking, physical examination, histopathological tests and blood sampling for DNA extraction were carried out for each patient.Results. - Seventeen patients were included in this study. Age ranged from 15 to 81 years with a sex-ratio of 3.2 m/f. Lesions appeared between the ages of 10 and 65 years and at a mean of 28 years. Clinically, lesions ranged from few keratotic papules on the palms to coalescence of lesions in plaques over palmar and/or plantar surfaces. Hyperhydrosis, hypopigmented macules and nail dystrophy were frequently associated. In all patients, histopathological examination revealed thickening of the epidermis with compact orthohyperkeratosis overlying a small and sharply demarcated area of depressed epidermis. Mechanical measures and keratolytic ointments proved non-beneficial. Genotyping for chromosomes 8 and 15 as well as LOD scores confirmed genetic linkage with the suspected locus on chromosome 15q, with the interval of the locus in question reduced to 3.26Mb. This region is flanked by markers D155987 and D155153.Conclusion. - Our study of this family confirmed the classical characteristics of KPP-BFB as well as demonstrating several associated clinical signs of which the significance will be determined in subsequent studies. Further screening studies to identify mutated genes in the region of interest will help us to understand the molecular basis of this disease and hopefully to propose suitable treatment. (C) 2010 Elsevier Masson SAS. All rights reserved.