P33 A lichenoid eruption and severe eczema in association with IMAGe syndrome

BRITISH JOURNAL OF DERMATOLOGY(2024)

引用 0|浏览3
暂无评分
摘要
Abstract IMAGe syndrome is a rare genetic disorder. IMAGe is an acronym for; (1)Intrauterine restricted growthMetaphyseal dysplasiaCongenital adrenal hypoplasiaGenitourinary abnormalities in males (cryptorchidism, micropenis, and hypospadias) Diagnosis is established by molecular genetic testing with heterozygous CDKN1C pathogenic mutation or a proband with suggestive findings in the PCNA (proliferating cell nuclear antigen)- binding domain of the maternally expressed allele. Additional features include characteristic facies (frontal bossing), developmental delay, immunodeficiency, osteoporosis and scoliosis. Severe, early onset eczema has been described in association with this syndrome. (2) We present the case of a 15-year-old boy with proven IMAGe syndrome, longstanding history of atopic dermatitis, and new onset lichenoid eruption on the forearms.
更多
查看译文
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要