PMC10034379_01
Photographs show clubbed fingers and toes, thickened palm skin, swollen knee joints, and limited flexion in the patient.
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F1
He had mildly thickened skin but no eczema, acne, or seborrheic dermatitis (Figure 1).
The long bone fragments of the child's hands, feet, and limbs show thickening of the periosteum, osteoporosis, and acro-osteolysis of the phalanges (arrow), swelling knee joint, and enlarged patellar bone with surrounding tissue hyperplasia (A-E). Lung computed tomography indicates local pleural thickening and traction (F). Compared with the results in 2019, food retention and duodenal dilation were remarkable by imaging in 2022 (G,H). Abdominal color ultrasound shows that the jejunum is lengthy, the local intestinal wall is thickened, and it gathers into a mass. There is a transcendental intussusception, which can be unzipped by itself (I). Electronic gastroenteroscopy revealed a rough gastric mucosa (J) and smooth colonic mucosa (K). Pathological biopsy of gastric and intestinal mucosal tissues showed mild changes in chronic inflammation (L,M).
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F2
Imaging examination revealed a significantly thickened periosteum in the long bone, knee joint swelling with an enlarged patellar bone, and surrounding tissue hyperplasia (Figures 2A-E). Lung computed tomography (CT) indicated local pleural thickening and traction (Figure 2F). Intussusception was detected by abdominal CT (Figure 2G). Abdominal CT showed food retention in the stomach, duodenal dilation, lengthy and clustered intestines, and endoscopic biopsy suggested chronic inflammatory changes in the digestive tract (Figures 2G-M).
(A) sanger sequence confirmed NM_000860.5: c.498 + 1G > A in the patient and his parents. (B) The pedigree diagram of the affected family. Only the proband (arrow) and his parents underwent genetic tests.
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F3
We identified a homozygous HPGD(NM_000860.5):c.498 + 1G > A variant in the patient, and both parents were carriers of this variant (Figure 3A). In our case, one of the patient's cousins and granduncles had the same syndrome, but they did not undergo genetic testing because we could not contact them (Figure 3B).