PMC9421425_01
Patient's clinical images at admission. (A) Claw-shaped hands with multi-finger deformity of the left thumb, with easily bruised and over stretchable skin (arrow). (B) Foot drop deformity (left), with surgical scars on the skin of the leg. (C) Over stretchable soft tissue of head shown on CT image. (D) X-ray images were presented for the lung in normal shape and size. (E) Calcifications in the liver. (F) Kidney atrophy (right), hydronephrosis, and renal calculi. (G) J stent in the urinary tract (left).
fgene-13-846529-g001.jpg
PMC9421425_01_fgene-13-846529-g001.jpg
F1
In addition, metacarpal curvature of hands (about 20 ) and multi-finger deformity of the left thumb were observed (Figure 1). On October 19, 2020, computed tomography (CT) scan was performed and found multiple solid nodules in both lungs, calcification in the right lobe of the liver, cholecystolithiasis, splenomegaly, right kidney atrophy, bilateral nephrohydrosis and renal calculi, implantation of left ureteral stent, and focal calcification of the prostate (Figure 1).
Images before and after orthopedics for equinovarus deformity of the right foot. (A,B) Foot drop and equinovarus deformity on DR (right). (C,D) Images after orthopedics of equinovarus deformity (right). (E) Pathological section of the fourth toe of the right foot showed chronic mucosal inflammation with submucosal fibrous adipose tissue hyperplasia and a little cortical bone tissue. Bar = 200 mum.
fgene-13-846529-g002.jpg
PMC9421425_01_fgene-13-846529-g002.jpg
F2
Regardless of infection from the incision, the right ankle still took a long recovery time (Figure 2).
Abdominal CT images before the operation for intestinal perforation and pathological detection. (A) Intestinal wall of the splenic flexure of the colon was discontinuous. (B) Abdominal and pelvic effusion. (C) Dilated duodenum and jejunum. (D) HE staining was performed using splenic flexure of the colon, showing a large number of inflammatory cell infiltration and abscess formation. Bar = 200 mum.
fgene-13-846529-g003.jpg
PMC9421425_01_fgene-13-846529-g003.jpg
F3
In detail, the intestinal wall of the splenic flexure of the colon was discontinuous and surrounded by abdominal and pelvic effusion mixed with intestinal contents (Figure 3). Clinical images of the patient for this phase are shown in Figure 3.
Abdominal CT images after gastric perforation and the pathological detection for gastric tissues. (A) Abdominal CT image after gastric perforation. (B) HE staining was performed with gastric tissues, showing inflammatory cells infiltrated and fibroblasts proliferated in the fibrous connective tissue of gastric tissue at pyloric perforation. Bar = 200 mum.
fgene-13-846529-g004.jpg
PMC9421425_01_fgene-13-846529-g004.jpg
F4
The pathological section images of gastric tissue are presented in Figure 4. After gastric perforation, the abdominal CT images were performed (Figure 4), identifying inflammatory peritoneal effusion and exudation. Clinical images of the patient for this phase are shown in Figure 4.
Whole-exome sequencing and variants verification by Sanger sequencing. (A) Genogram of the patient. (B) Sequence analysis reveals homozygous TT deletion at 883 and 884 of the CHST14 gene in the patient. The deleted nucleotides are boxed in the WT sequence (upper panel), while the arrow indicates the position of the deleted nucleotides in the mutation sequence (lower panel).
fgene-13-846529-g005.jpg
PMC9421425_01_fgene-13-846529-g005.jpg
F5
T at position 883 and 884 of CHST14, resulting in the substitution of phenylalanine at position 295 by cysteine of CHST14 [c.883_884del, p (Phe295Cysfs*5)] (Figure 5). This result was further verified by Sanger sequencing (Figure 5).