Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report

Background 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. Case presentation Herein, we describe a 12-y...

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Published inBMC pediatrics Vol. 22; no. 1; pp. 1 - 486
Main Authors Tao, Dong-Ying, Niu, Huan-Hong, Zhang, Jing-Jing, Zhang, Hui-Qin, Zeng, Ming-Hua, Cheng, Sheng-Quan
Format Journal Article
LanguageEnglish
Published London BioMed Central Ltd 13.08.2022
BioMed Central
BMC
Subjects
Case Report
Case reports
Case studies
Coffin-Siris syndrome
Congenital diseases
Congenital giant nevus
Diagnosis
Dosage and administration
Drug therapy
Genetic aspects
Genotype & phenotype
Growth hormones
Insulin
Insulin-like growth factors
Intellectual disabilities
Intelligence tests
Laboratories
Magnetic resonance imaging
Mole (Dermatology)
Mutation
Patients
Pediatric research
Pediatrics
Short stature
Somatotropin
Stature, Short
Thyroid gland
Vitiligo
China
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Summary:Background 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. Case presentation 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. Conclusion 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. Keywords: Coffin-Siris syndrome, Short stature, Congenital giant nevus, Case report
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ISSN:1471-2431
1471-2431
DOI:10.1186/s12887-022-03535-4