case_images: PMC10017992_01
case_images: PMC10017992_02
case_images: Summary of Clinical events before diagnosis.
case_images: fonc-13-1098876-g001.jpg
case_images: PMC10017992_02_fonc-13-1098876-g001.jpg
case_images: f1
case_images: He had an elder sister of 25 years with a history of chronic gastrointestinal (GI) complaints, rash, oral lesions, and nail abnormalities ( Figures 1 ,  2 ) However, the blood counts of the sister were in normal limits and there was no history of bleeding or infections.
case_images: (A) Oral lesions. (B) Hyperpigmentation over the upper chest. (C) Dystrophic nails.
case_images: fonc-13-1098876-g002.jpg
case_images: PMC10017992_02_fonc-13-1098876-g002.jpg
case_images: f2
case_images: He had an elder sister of 25 years with a history of chronic gastrointestinal (GI) complaints, rash, oral lesions, and nail abnormalities ( Figures 1 ,  2 ) However, the blood counts of the sister were in normal limits and there was no history of bleeding or infections.
case_images: (A) Leukoplakia. (B) Reticulated hyperpigmentation over the side and front of the neck. (C) Dystrophic nails.
case_images: fonc-13-1098876-g003.jpg
case_images: PMC10017992_02_fonc-13-1098876-g003.jpg
case_images: f3
case_images: Moreover, he had reticulated hyperpigmentation over the neck and upper chest, dystrophic nails, and leukoplakia ( Figure 3 ).
case_images: Male sibling: death at 2 months of age, cause not established. Female sibling: death at 24 h of life, cause not established. Male sibling: death at 4.5 years of age, cause not established. 33-year-old female sibling: alive and healthy. 22-year-old male sibling: alive and healthy.
case_images: fonc-13-1098876-g004.jpg
case_images: PMC10017992_02_fonc-13-1098876-g004.jpg
case_images: f4
case_images: PMC10017992_03