case_images: PMC11814156_01
case_images: Erythema, with erosion, exudation and crust on the extremities.
case_images: fped-13-1484208-g001.jpg
case_images: PMC11814156_01_fped-13-1484208-g001.jpg
case_images: F1
case_images: Regarding skin lesions, following consultation with attending neonatologists and dermatologists, the patients was suspected to have incontinentia pigmenti (PI) as the linear erythema, with erosion, exudation and crust on the extremities (Figure 1).
case_images: (A) The proband's family tree diagram; the arrow indicates the proband. The circles represent the proband and her mother, and the square represents her father. (B) Sanger sequencing diagram. The mutation was verified by Sanger sequencing, which revealed two novel compound heterozygous mutations in exons 22 [c.2611C > T (p.Arg871Ter)] and 14 [c.1584-1585insCTTT (p.Glu529LeufsTer2)] of TMRRSS15 gene, which were inherited from the patient's mother and father, respectively.
case_images: fped-13-1484208-g002.jpg
case_images: PMC11814156_01_fped-13-1484208-g002.jpg
case_images: F2
case_images: The results showed that the patient had two novel compound heterozygous mutations in exons 22 [c.2611C > T (p.Arg871Ter)] and 14 [c.1584_1585insCTTT (p.Glu529LeufsTer2)] of the TMRRSS15 gene (Figure 2).