case_images: PMC8220076_01
case_images: PMC8220076_02
case_images: Symmetrical erythema on the patient's face.
case_images: fendo-12-524242-g001.jpg
case_images: PMC8220076_02_fendo-12-524242-g001.jpg
case_images: f1
case_images: Symmetrical erythema can be seen on his face ( Figure 1 ), areas of hypopigmentation and hyperpigmentation scattered.
case_images: Quantitative MRI of fat of the proband. No reduction or abnormal distribution of fat was presented.
case_images: fendo-12-524242-g002.jpg
case_images: PMC8220076_02_fendo-12-524242-g002.jpg
case_images: f2
case_images: 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.
case_images: 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.
case_images: fendo-12-524242-g003.jpg
case_images: PMC8220076_02_fendo-12-524242-g003.jpg
case_images: f3
case_images: 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 ).
case_images: Family pedigree. Filled black symbols represent individuals with diabetes. The red arrow indicates the proband.
case_images: fendo-12-524242-g004.jpg
case_images: PMC8220076_02_fendo-12-524242-g004.jpg
case_images: f4
case_images: 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 ).