A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

被引:1
|
作者
Shin, Jun-Oh [1 ,2 ]
Roh, Dongyoung [1 ,2 ]
Shin, Kihyuk [1 ]
Kim, Woo-Il [1 ,2 ]
Yang, Min-Young [1 ]
Lee, Won-Ku [1 ,2 ]
Kim, Hoon-Soo [1 ]
Kim, Byung-Soo [1 ]
Kim, Moon-Bum [1 ]
Ko, Hyun-Chang [1 ,2 ,3 ]
机构
[1] Pusan Natl Univ, Sch Med, Dept Dermatol, Busan, South Korea
[2] Pusan Natl Univ, Dept Dermatol, Yangsan Hosp, 20 Geumo Ro, Yangsan 50612, South Korea
[3] Pusan Natl Univ, Res Inst Convergence Biomed Sci & Technol, Yangsan Hosp, Yangsan, South Korea
关键词
Alopecia; Ichthyosis; Missense mutation; Photophobia; SPINULOSA DECALVANS; IFAP SYNDROME;
D O I
10.5021/ad.2022.34.1.59
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic disorder caused by mutations in the MBTPS2 gene. It is characterized by ichthyosis and alopecia from birth. Photophobia may be present in infancy or early childhood. Its mode of inheritance is X-linked recessive; thus, it mostly affects male. The disease severity varies, ranging from mild cases limited to the skin to the severe variant involving multiple extracutaneous features. A 7-year-old boy presented with scanty hair on scalp and eyebrows at birth. On physical examination, scaly patches were observed on the whole body and spiky follicular hyperkeratotic papules were observed on the face and trunk. He also suffered from severe photophobia. Histopathological examination of the scalp showed miniaturized hair follicles without perifollicular fibrosis. Genetic analysis revealed a novel mutation in the MBTPS2 gene which was a homozygous missense mutation of c.245T>C leading to an amino-acid substitution from phenylalanine to serine (p.Phe82Ser). We diagnosed this patient with IFAP syndrome. To date, 25 pathogenic MBTPS2 gene mutations have been identified. To our knowledge, c.245T>C is a novel homozygous missense mutation in the MBTPS2 gene, which has not been reported in Human Gene Mutation Database, ClinVar Database, and Leiden Open Variation Database. Previous reports suggested genotype-phenotype correlations in the MBTPS2 gene mutations. Supported by a previous notion that genotype correlates with phenotype, this novel mutation can be a predictive factor for the mild form of IFAP syndrome, restricted to the classic symptom triad.
引用
收藏
页码:59 / 62
页数:4
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