PMC9134870_01
Clinical characteristics of the patient: obvious pigmentation in the skin around the neck, underarm pit and inguinal areas and rough hyperplasia with increasing hair in the chest and abdomen.
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Physical examination showed obvious pigmentation in the skin around the neck, underarm pit, and inguinal areas and rough hyperplasia with increasing hair in the chest and abdomen ( Figure 1 ) and other data were normal.
(A) Pancreatic MRI + enhancement: pancreatic neck diameter 6 mm nodule-like protrusion. (B) Patient ultrasound endoscopy: a low echo area in the pancreatic neck with a sectional size of approximately 1.0*0.6 cm. (C) EUS-FNA, intraoperative pancreatic tissue disease showed pancreatic puncture tissue is mostly cellulose-like exudate, large lymphocytes and little eosinophils diffuse or focal infiltration, local extrusion deformation, structure under clear, no pancreatic tissue structure and other were seen.
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Pancreatic MRI indicated a 6 mm diameter nodule-like protrusiona in pancreatic neck. ( Figure 2A ) and endoscopic ultrasonography (EUS) indicated a low echo area in the pancreatic neck ( Figure 2B ). According to  Figures 2A, B , insulinoma seems to be the cause of the diagnosis.
(A) Pedigree diagram and verification results of genetic testing for the proband and his parents: (B) Sample number: 19D3692119, Affiliation: proband, Nucleotide change: c.3472C>T, Amino acid changes: p.Arg1158Trp, Verification result: heterozygosis, Test method: Mass spectrometry validation; (C) Sample number: 19D3234505, Affiliation: mother, Nucleotide change: normal, Amino acid changes: normal, Verification result: normal, Test method: Mass spectrometry validation; (D) Sample number: 19D3234506, Affiliation: father, Nucleotide change: c.3472C>T, Amino acid changes: p.Arg1158Trp, Verification result: heterozygosis, Test method: Mass spectrometry validation.
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Arg1158Trp) Variability ( Figure 3 ).