PMC8220076_01
PMC8220076_02
Symmetrical erythema on the patient's face.
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PMC8220076_02_fendo-12-524242-g001.jpg
f1
Symmetrical erythema can be seen on his face ( Figure 1 ), areas of hypopigmentation and hyperpigmentation scattered.
Quantitative MRI of fat of the proband. No reduction or abnormal distribution of fat was presented.
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PMC8220076_02_fendo-12-524242-g002.jpg
f2
MRI of fat did not suggest a reduction or abnormal distribution of fat ( Figure 2 ). Metformin 0.5g tid and pioglitazone 30mg qd were added, while the total amount of insulin reduced from 74 units to 64 units per day.
Results of Sanger sequencing of BLM of the proband. The red arrows indicate the c.1544delA (p.Asn515Metfs*16) (A) and c.692T>G (p.Leu231*) (B) heterozygous variants.
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f3
BLM (BLM RecQ like helicase gene) variants (NM_000057.4), c.692T>G (p.Leu231*) and c.1544delA (p.Asn515Metfs*16) heterozygous variants, inherited from their parents, respectively ( Figures 3  and  4 ).
Family pedigree. Filled black symbols represent individuals with diabetes. The red arrow indicates the proband.
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f4
BLM (BLM RecQ like helicase gene) variants (NM_000057.4), c.692T>G (p.Leu231*) and c.1544delA (p.Asn515Metfs*16) heterozygous variants, inherited from their parents, respectively ( Figures 3  and  4 ).