Abstract：
Coffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported.
Herein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature. Prominent characteristics of the cutaneous system were observed: (1) A congenital giant nevus from the left frontal and temporal regions to the entire left scalp; and (2) multiple melanocytic nevi on the face and trunk. Whole exome sequencing revealed a novel heterozygous variant in the ARID1B gene. Recombinant human growth hormone (rhGH) was given for short stature, and resulted in significantly improved height. No enlargement or malignant transformation of nevi occurred within 4 years of follow-up.
The symptoms in cutaneous system is noteworthy,which may be a neglected phenotype in CSS.The therapeutic response of growth hormone is effective in this patient and no tumor related signs were found.
Herein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature. Prominent characteristics of the cutaneous system were observed: (1) A congenital giant nevus from the left frontal and temporal regions to the entire left scalp; and (2) multiple melanocytic nevi on the face and trunk. Whole exome sequencing revealed a novel heterozygous variant in the ARID1B gene. Recombinant human growth hormone (rhGH) was given for short stature, and resulted in significantly improved height. No enlargement or malignant transformation of nevi occurred within 4 years of follow-up.
The symptoms in cutaneous system is noteworthy,which may be a neglected phenotype in CSS.The therapeutic response of growth hormone is effective in this patient and no tumor related signs were found.
摘要：
Coffin-Siris综合征（CSS）是一种罕见的常染色体显性疾病，以智力障碍为特征，发育迟缓,和特征性的面部特征。很少有这种罕见综合征的皮肤表型患者被报道。
这里，我们描述了一个12岁的中国女孩被诊断患有CSS，他因智力残疾和身材矮小被转诊到我们医院。观察到皮肤系统的显着特征：（1）从左额叶和颞区到整个左头皮的先天性巨痣；（2）面部和躯干上有多个黑素细胞痣。全外显子组测序揭示了ARID1B基因中的一种新的杂合变体。重组人生长激素（rhGH）用于治疗身材矮小，并导致高度显着提高。随访4年内未见痣肿大或恶变。
皮肤系统的症状值得注意，这可能是CSS中被忽视的表型。生长激素的治疗反应对该患者有效，未发现与肿瘤相关的体征。
这里，我们描述了一个12岁的中国女孩被诊断患有CSS，他因智力残疾和身材矮小被转诊到我们医院。观察到皮肤系统的显着特征：（1）从左额叶和颞区到整个左头皮的先天性巨痣；（2）面部和躯干上有多个黑素细胞痣。全外显子组测序揭示了ARID1B基因中的一种新的杂合变体。重组人生长激素（rhGH）用于治疗身材矮小，并导致高度显着提高。随访4年内未见痣肿大或恶变。
皮肤系统的症状值得注意，这可能是CSS中被忽视的表型。生长激素的治疗反应对该患者有效，未发现与肿瘤相关的体征。
