It is caused by mutations in AAAS gene which encodes a protein called ALADIN. 8-year-old boy who presented with hypoglycemic seizures, dysphagia, dry eyes and hyperpigmentation
[ncbi.nlm.nih.gov]
She had mild, diffuse hyperpigmentation of the skin, and more severe hyperpigmentation in the lips, gums, buccal mucosa, creases of the palms, and elbows.
[cags.org.ae]
He had moderate hyperpigmentation of the skin, gum, buccal mucosa, palmar creases, knuckles, and elbows.
[annsaudimed.net]