关键词: 遗传性疾病, 先天性, 色素沉着异常, 儿童, Curry-Jones综合征, SMO基因, Hedgehog通路

Abstract: 【Abstract】 A 3-year-6-month-old boy presented with multiple asymptomatic banded white macules at birth, which expanded in proportion to his body, and deformity of his right thumb with slight dyskinesia. The patient showed difficulty in communication and concentration compared with children of the same age. The family history was unremarkable. The child had clear consciousness, passable spirits, and poor language ability. Physical examination revealed a special face and slight macrodactyly of the right thumb joints, and the heart, lung, and abdominal examination was otherwise normal. Skin examination showed multiple banded or confluent irregular white macules of varying sizes and slightly elevated plaques distributed along the Blaschko′s lines on the right chest, the flexor aspect of the right upper limb, the median line of the lower abdomen, and the right lower limbs, and banded brown macules on the palmar side of the right hand and radial aspect of the right thumb. Histopathological findings of the while macule on the lower limb were consistent with basaloid follicular hamartoma. Cranial magnetic resonance imaging revealed agenesis of the corpus callosum. Whole-exome sequencing of the lesional tissue showed a mutation c.1234C>T （p.L412F）in the SMO gene, which was not found in his parents. A diagnosis of Curry-Jones syndrome was made based on the skin lesions, and pathological and genetic findings. The mutation c.1234C>T （p.L412F）in the SMO gene may contribute to the disease. The patient continued functional exercises to improve the mobility of his right thumb, and underwent a close follow-up.

Key words: Genetic diseases, inborn, Pigmentation disorders, Child, Curry-Jones syndrome, SMO gene, Hedgehog signaling pathway