PMC10017992_01
PMC10017992_02
Summary of Clinical events before diagnosis.
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f1
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.
(A) Oral lesions. (B) Hyperpigmentation over the upper chest. (C) Dystrophic nails.
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f2
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.
(A) Leukoplakia. (B) Reticulated hyperpigmentation over the side and front of the neck. (C) Dystrophic nails.
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f3
Moreover, he had reticulated hyperpigmentation over the neck and upper chest, dystrophic nails, and leukoplakia ( Figure 3 ).
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.
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f4
PMC10017992_03