Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation
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DOI：
10.1684/ejd.2009.0684
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发表时间：
2009-07-01
影响因子：
2.5
通讯作者：
Azevedo, Filomena
中科院分区：
文献类型：
--
作者：
Morais, Paulo;Mota, Alberto;Azevedo, Filomena
我们报告的情况下，一个12岁的女孩提出在出生红皮病，糜烂和水泡分散在皮肤。到3岁时，她出现了泛发性角化过度斑块，呈鹅卵石样，气味刺鼻，最突出的是在屈部、头皮和掌跖区域周围。临床、组织学及超微结构检查证实为表皮增生性角化症。分子遗传学分析揭示了KRT10基因的突变。尝试口服阿维A治疗，但由于肝功能障碍和明显脱皮和水疱而停药。EHK是一种罕见的常染色体显性角化疾病，由KRT1或KRT10基因突变引起。虽然掌跖角化病通常见于KRT 1突变的患者，但我们的患者表现为掌跖受累和KRT 10突变的EHK。此外，观察到对全身性类维生素A的反应较差，与KRT10突变患者的预期相反。即使管理通常是不令人满意的，一些患者与这种终身和严重的条件可能会随着年龄的增长而改善。
We report the case of a 12-year-old girl presenting at birth with erythroderma, erosions and blisters scattered over the integument. By the age of 3 she presented generalized hyperkeratotic plaques with a cobblestone pattern and a pungent odour, most prominently around flexures, scalp and palmoplantar areas. Clinical, histological and ultrastructural findings confirmed the diagnosis of epidermolytic hyperkeratosis (EHK). Molecular genetic analysis revealed a mutation in the KRT10 gene. Treatment with oral acitretin was attempted but it was discontinued due to hepatic dysfunction and marked desquamation and blistering. EHK is a rare autosomal dominant disorder of keratinization, caused by mutations in either the KRT1 or KRT10 genes. Although palmoplantar keratoderma is typically found in patients with KRT1 mutation, our patient presents EHK with palmoplantar involvement and KRT10 mutation. Moreover, a poor response to systemic retinoids was observed, contrary to what is expected in patients with KRT10 mutation. Even though management is usually unsatisfactory, some patients with this lifelong and serious condition may experience improvement with age.