CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase‐Like Protein Gene Mutation

• Published in: Pediatric dermatology Vol. 32; no. 6; pp. e277 - e282
• Main Authors: Mi, Xiang‐bin, Luo, Miao‐xuan, Guo, Lin‐lang, Zhang, Tang‐de, Qiu, Xian‐wen
• Format: Journal Article
• Language: English
• Published: United States 01.11.2015
• Subjects: 3-Hydroxysteroid Dehydrogenases - genetics; Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Asian Continental Ancestry Group - genetics; Child; China - epidemiology; Exons - genetics; Female; Genetic Diseases, X-Linked - diagnosis; Genetic Diseases, X-Linked - genetics; Humans; Ichthyosiform Erythroderma, Congenital - diagnosis; Ichthyosiform Erythroderma, Congenital - genetics; Immunohistochemistry; Limb Deformities, Congenital - diagnosis; Limb Deformities, Congenital - genetics; Point Mutation; Polymerase Chain Reaction; Skin - pathology; China
• ISSN: 0736-8046; 1525-1470
• DOI: 10.1111/pde.12701

Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is an X‐linked autosomal dominant disorder characterized by unilateral congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects caused by a mutation in the gene encoding NAD[P]H steroid dehydrogenase‐like protein (NSDHL) at Xq28. The histopathologic hallmark of skin lesions in CHILD syndrome is psoriasiform epidermis with hyperkeratosis and parakeratosis, and its most striking feature affecting the upper dermis is filling of the papillary dermis with foam cells. Here we present the case of a 9‐year‐old Chinese girl born with the typical clinical features of CHILD syndrome. Histologic and immunohistochemical evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the NSDHL gene. In addition, we provide a literature review of 26 unrelated CHILD syndrome patients from different countries, caused by 20 unique gene mutations occurring throughout the entire NSDHL gene, to promote understanding and provide a more comprehensive description of this unusual disorder.