Belligni Elga F, Dokal Inderjeet, Hennekam Raoul C M
Department of Pediatrics, University of Torino, Torino, Italy.
Eur J Med Genet. 2011 May-Jun;54(3):231-5. doi: 10.1016/j.ejmg.2011.01.001. Epub 2011 Jan 18.
Naegeli(-Franceschetti-Jadassohn) syndrome and Dermatopathia Pigmentosa Reticularis are allelic disorders, both characterized by a congenital generalized reticulate hyperpigmentation, palmoplantar hyperkeratosis and other ectodermal symptoms. The disorders differ in their primary pigmentation localization and hair and dental manifestations. They resemble Dyskeratosis Congenita and Poikiloderma Clericuzio type in many of the skin changes, but especially the presence of leukoplakia and bone marrow disfunctioning in the first, and of telangiectasias, generalized hyperkeratosis of palms and soles, and nail pachyonychia in the latter are distinguishing features. Here we present two unrelated patients who have prenatal and postnatal growth retardation, microcephaly, developmental delay, generalized reticulate hyperpigmentation, hypohidrosis, absent fingertip prints, and absent palmoplantar hyperkeratosis. The patients differ in nail manifestations and hair colour. No Keratin14 mutation or genomic imbalance at CGHarray could be found in either of them. Although their phenotype overlaps with Naegeli syndrome, dermatopathia pigmentosa reticularis, dyskeratosis congenita and poikiloderma Clericuzio type, the differences in ectodermal manifestations, immunological functioning, growth pattern and cognition may indicate the presence of a separate entity.
内格利（-弗朗切斯科蒂-雅达松）综合征和网状色素性皮病是等位基因疾病，二者均以先天性全身性网状色素沉着、掌跖角化过度及其他外胚层症状为特征。这两种疾病在原发性色素沉着部位以及毛发和牙齿表现方面存在差异。它们在许多皮肤变化方面与先天性角化不良和克莱里库齐奥型皮肤异色症相似，但尤其是前者存在白斑和骨髓功能障碍，而后者存在毛细血管扩张、掌跖广泛性角化过度和甲肥厚，这些是其区别特征。在此，我们报告两名无血缘关系的患者，他们存在产前和产后生长发育迟缓、小头畸形、发育迟缓、全身性网状色素沉着、少汗、指尖指纹缺失以及掌跖角化过度缺失。这两名患者在指甲表现和头发颜色方面存在差异。在他们两人中均未发现角蛋白14突变或比较基因组杂交阵列上的基因组失衡。尽管他们的表型与内格利综合征、网状色素性皮病、先天性角化不良和克莱里库齐奥型皮肤异色症有重叠，但在外胚层表现、免疫功能、生长模式和认知方面的差异可能表明存在一种独立的疾病实体。
