Lestringant G G, Masouyé I, Frossard P M, Adeghate E, Galadari I H
Department of Dermatology, Tawam Hospital, Al Ain, United Arab Emirates.
Dermatology. 1997;195(4):337-43. doi: 10.1159/000245984.
The spectrum of Dowling-Degos disease-reticulate acropigmentation of Kitamura (DDD-RAK) is a group of rare autosomal dominant disorders that have in common a unique histological picture of hyperpigmented digitate epidermal 'downgrowths'. Patients with the DDD-RAK spectrum may show hyperpigmented macules and papules, facial pits, breaks in dermatoglyphics and epidermoid cysts.
We examined 5 unrelated patients, 3 females and 2 males (age range 22-35 years), who presented with clinical and histological features of the DDD-RAK spectrum. In addition, the patients presented with hypo- or depigmented macules and papules. Histopathology of the lesions revealed features that were identical to DDD-RAK; there were, however, diminution or absence of pigmentation. Family histories for pigmented lesions and leukoderma were positive in all patients and consistent with autosomal dominant modes of inheritance.
These 5 cases, together with isolated reports in the literature of achromic lesions with histological features of DDD-RAK, point to the hypothesis that achromic macules and papules may be a feature of the DDD-RAK spectrum.
道林-迪戈斯病-北村网状肢端色素沉着症（DDD-RAK）谱系是一组罕见的常染色体显性疾病，其共同特征是具有色素沉着的指状表皮“向下生长”这一独特的组织学表现。DDD-RAK谱系的患者可能出现色素沉着的斑疹和丘疹、面部凹坑、皮纹中断和表皮样囊肿。
我们检查了5例无亲缘关系的患者，3名女性和2名男性（年龄范围22 - 35岁），他们具有DDD-RAK谱系的临床和组织学特征。此外，这些患者还出现了色素减退或色素脱失的斑疹和丘疹。病变的组织病理学显示与DDD-RAK相同的特征；然而，色素沉着减少或缺失。所有患者色素沉着病变和白斑的家族史均为阳性，且符合常染色体显性遗传模式。
这5例病例，连同文献中关于具有DDD-RAK组织学特征的无色素病变的单独报道，提示无色素斑疹和丘疹可能是DDD-RAK谱系的一个特征。
