PMC7011349_01
Slate-grey appearance of face.
CRIG2019-6148425.001.jpg
PMC7011349_01_CRIG2019-6148425.001.jpg
fig1
In the course of months upon follow-up, he developed fatigue, generalised lassitude, and a slate-grey discolouration most prominently around the nose and mouth, tongue, hand palms, and around skin scars (see Figure 1).
Electropherogram.
CRIG2019-6148425.002.jpg
PMC7011349_01_CRIG2019-6148425.002.jpg
fig2
DNA sequence analysis of the ABCD1 gene (NM_000033.3) revealed the hemizygous variant c.1534G>A (p.(Gly512Ser)) which is a recurrent, pathogenicity class 5 variant (see electropherogram in Figure 2).