Diociaiuti Andrea, Fortugno Paola, El Hachem May, Angelo Corrado, Proto Vittoria, De Luca Naomi, Martinelli Diego, Boldrini Renata, Castiglia Daniele, Zambruno Giovanna
Dermatology Division, Bambino Gesù Children's Hospital-IRCCS, P.zza Sant'Onofrio, 4, IT-00165 Rome, Italy.
Acta Derm Venereol. 2014 Sep;94(5):579-82. doi: 10.2340/00015555-1796.
Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in the KRT10 gene. The disease manifests at birth with erythroderma and scaling and is characterised by the gradual development of numerous confetti-like spots of normal skin. Diagnosis of IC is frequently delayed until adolescence or even adulthood. We report 2 young children who were first diagnosed as having congenital ichthyosiform erythroderma. However, the development of thick, confluent hyperkeratotic plaques together with the histopathological finding of keratinocyte vacuolisation in the suprabasal epidermis evoked IC. Immunofluorescence analysis showed a highly reduced keratin 10 expression within the cytoplasm of suprabasal keratinocytes and its characteristic mislocalisation to the nuclei. The diagnosis was confirmed by the identification of 2 previously unreported mutations in intron 6 and exon 7 of KRT10. Careful clinical examination then showed the presence of the first spots of normal skin in both patients at the age of 2.5 and 5 years, respectively. These cases point to the usefulness of immunofluorescence analysis of keratin 10 expression for an early diagnosis of IC.
点状鱼鳞病（IC）是一种严重的非综合征性鱼鳞病，由KRT10基因的杂合突变引起。该病在出生时表现为红皮病和鳞屑，其特征是逐渐出现许多正常皮肤的点状斑。IC的诊断常常延迟至青春期甚至成年期。我们报告了2例幼儿，最初被诊断为先天性鱼鳞病样红皮病。然而，厚的、融合的角化过度斑块的出现以及基底层上方表皮角质形成细胞空泡化的组织病理学发现提示了IC。免疫荧光分析显示，基底层上方角质形成细胞胞质内角蛋白10表达高度降低，且其特征性地错误定位于细胞核。通过鉴定KRT10基因第6内含子和第7外显子中的2个先前未报道的突变，确诊了该诊断。仔细的临床检查随后显示，两名患者分别在2.5岁和5岁时出现了最初的正常皮肤斑点。这些病例表明，对角蛋白10表达进行免疫荧光分析有助于IC的早期诊断。
