局限性毛囊角化病。对遗传学研究的意义。
Localized Darier disease. Implications for genetic studies.
作者信息
O'Malley M P, Haake A, Goldsmith L, Berg D
机构信息
Division of Dermatology, University of Toronto, Ontario.
出版信息
Arch Dermatol. 1997 Sep;133(9):1134-8.
BACKGROUND
Darier disease is an uncommon genodermatosis characterized by the symmetrical eruption of keratotic reddish-brown papules occurring in the seborrheic areas of the body. A unilateral, or localized, variant has been identified. We report 4 new cases of localized Darier disease and review the English-language literature. The implications of these cases on future genetic studies are also discussed.
OBSERVATIONS
Localized Darier disease occurred with equal frequency in males and females. The average age at onset was 27 years. The most frequent site of involvement was the trunk (40% [16/40]). This condition was aggravated by sunlight, heat, or sweating in 42% (19/40) of reported cases, and 38% (15/40) of the patients responded to treatment with topical tretinoin.
CONCLUSIONS
Many of the clinical features of localized Darier disease suggest that it is a genetic mosaic of generalized Darier disease. Further studies of localized Darier disease may therefore prove to be instrumental in the search for the Darier disease gene.
背景
Darier病是一种罕见的遗传性皮肤病，其特征为在身体的脂溢部位出现对称分布的角化性红棕色丘疹。已发现一种单侧或局限性的变异型。我们报告4例局限性Darier病新病例并复习英文文献。还讨论了这些病例对未来遗传学研究的意义。
观察结果
局限性Darier病在男性和女性中发病频率相同。平均发病年龄为27岁。最常受累部位是躯干（40%[16/40]）。在报告的病例中，42%（19/40）的病情因阳光、热或出汗而加重，38%（15/40）的患者对局部使用维甲酸治疗有反应。
结论
局限性Darier病的许多临床特征表明它是泛发性Darier病的遗传嵌合体。因此，对局限性Darier病的进一步研究可能有助于寻找Darier病基因。
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