期刊
PEDIATRIC DERMATOLOGY
卷 39, 期 3, 页码 434-437出版社
WILEY
DOI: 10.1111/pde.14969
关键词
case report; CHIME syndrome; neuroectodermal disorder; PIGL
This case report describes a patient with CHIME syndrome showing atypical clinical features and laboratory findings, with a novel likely pathogenic PIGL missense variant detected on the maternal allele. This highlights the potential for phenotypic/genotypic variations in CHIME syndrome.
Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder related to PIGL gene mutations. Here, we report a patient who showed an initial delay in psychomotor development and skin abnormalities consistent with CHIME syndrome but with atypical clinical features and laboratory findings. In line with our clinical suspicion, the c.500T>C, p.(Leu167Pro) variant (found in all the previously described cases of CHIME syndrome) was found on the paternal allele. A novel likely pathogenic PIGL missense variant (c.154G>A, p.(Asp52Asn)) was detected on the maternal allele. This case provides new insights into the clinical spectrum of CHIME syndrome and highlights the potential for phenotypic/genotypic variations.
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