Department of Dermatology, Peru National Police Hospital, Lima, Peru.
Jalisco Dermatological Institute, Guadalajara, Mexico.
Acta Dermatovenerol Alp Pannonica Adriat. 2021 Mar;30(1):47-48.
Buschke-Fischer-Brauer (BFB) disease is a rare keratoderma characterized by multiple hyperkeratotic lesions on the palms and soles, with an autosomal dominant pattern. In several countries, some genetic alterations have been associated with this clinical entity. A 68-year-old Peruvian woman presenting with hyperkeratotic lesions on both her palms and soles was diagnosed with BFB keratoderma. After sequencing of the genes that had previously been related to this disease, a mutation (c.249C>G) that was predicted to generate a termination codon (Tyr83*) was found in the alpha and gamma adaptin binding protein P34 gene (AAGAB). After treatment with 30% urea plus 10% salicylic acid, the patient experienced an improvement in her condition. Here we report a novel mutation in the AAGAB gene of a patient diagnosed with BFB keratoderma and a treatment that improved her symptoms.
Buschke-Fischer-Brauer (BFB) 病是一种罕见的角化病，其特征是手掌和脚底有多个角化过度病变，呈常染色体显性遗传模式。在一些国家，一些遗传改变与这种临床实体有关。一位 68 岁的秘鲁妇女，手掌和脚底均有角化过度病变，被诊断为 BFB 角化病。在对以前与这种疾病相关的基因进行测序后，在 alpha 和 gamma 衔接蛋白 P34 基因 (AAGAB) 中发现了一个预测会产生终止密码子 (Tyr83*) 的突变 (c.249C>G)。在使用 30%尿素加 10%水杨酸治疗后，患者病情有所改善。在此，我们报告了一位 BFB 角化病患者的 AAGAB 基因突变，并介绍了一种可改善其症状的治疗方法。
