Wu Yu-Hung, Lin Yang-Chih
Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan.
J Am Acad Dermatol. 2007 Aug;57(2):327-34. doi: 10.1016/j.jaad.2006.12.023.
Dowling-Degos disease (DDD) is a rare inherited disease characterized by reticular hyperpigmentation on flexor surfaces.
We sought to describe several cases of generalized DDD, a presentation that resemble dyschromatosis universalis hereditaria.
The clinical manifestations, histopathologic, and genetic studies of a family with autosomal dominant inheritance were analyzed.
The father and his sister had reticular hyperpigmentation on flexor surfaces, whereas the daughter and son had generalized hyperpigmentation with numerous hypopigmented or erythematous macules and papules on the trunk and limbs. Skin biopsy specimens from both types of lesions all had typical features of DDD. Biopsy specimens from axillary skin had features of Galli-Galli disease, an acantholytic form. There were no mutations of the double-stranded RNA-specific adenosine deaminase or keratin 5 genes.
Generalizations cannot be drawn from genetic study of only one family.
DDD can present with generalized hyperpigmentation and hypopigmented papules.
Dowling-Degos病（DDD）是一种罕见的遗传性疾病，其特征为屈侧皮肤出现网状色素沉着。
我们试图描述几例泛发性DDD病例，其表现类似于遗传性泛发性色素沉着异常。
对一个常染色体显性遗传家族的临床表现、组织病理学和遗传学研究进行分析。
父亲和他的妹妹在屈侧皮肤有网状色素沉着，而女儿和儿子有泛发性色素沉着，躯干和四肢有许多色素减退或红斑性斑疹和丘疹。两种类型皮损的皮肤活检标本均具有DDD的典型特征。腋窝皮肤活检标本有Galli-Galli病（一种棘层松解型疾病）的特征。双链RNA特异性腺苷脱氨酶或角蛋白5基因无突变。
不能仅从一个家族的遗传学研究得出普遍结论。
DDD可表现为泛发性色素沉着和色素减退性丘疹。
