Methods
On examination in our hospital, the patient’s vital signs are normal.
There were no noticeable aberrant lung or cardiac murmurs. The skin of
the neck and back was diffusely hardened and thickened with a smooth
surface and normal hairs. His hands, feet, or upper or lower limbs were
not involved. There were no finger ulcers, calcification, or sclerosis
(Figures 2A and 2B). The patient’s fasting glucose and glycated
hemoglobin A1(HbA1c) were both high, and a clear diagnosis of type 2
diabetes was made available by further implementing the glucose
tolerance test (OGTT) (a standardized OGTT of 75 g for 2 hours was
performed after an overnight fast). Total cholesterol (TC), Triglyceride
(TG), and Low-density lipoprotein cholesterol (LDL-C) concentrations
were high, and High-density lipoprotein cholesterol (HDL-C)
concentrations were low. Antistreptolysin-O (ASO), antistreptolysin
kinase (ASK), anti-Scl-70, anti-Jo-1, anti-PM-SCL antibody, anti-RP3
antibody, anti-keratin antibody, erythrocyte sedimentation rate, and
rheumatoid factor were all negative in the blood. The value of
α-Galactosidase A(α-Gal-A) tested by dried blood spot (DBS) was 4.74
(normal range, 2.40 to 17.65). Thyroid function tests and serum protein
electrophoresis results were normal. Other laboratory test results are
shown in Table 1.
An electrocardiogram showed high left ventricular voltage and mild
widening of QRS waves (Figure 3A). The dermis thickness on the patient’s
neck and back was measured using ultrasonography. The thickness of the
dermis was measured in the thickest area and the normal area for
comparison, and it was discovered that the skin on the neck and back
(8–10 mm) was considerably thicker and more echogenic than the typical
skin around the waist (4 mm) (Figure 3B). A transthoracic echocardiogram
(Figure 4A) on admission showed an enlarged left heart, left ventricular
end-diastolic internal diameter of 65mm, left ventricular end-diastolic
volume of 220ml, left ventricular hypertrophy, left ventricular
posterior wall thickness of 12mm, septal thickness of 12mm, left
ventricular apical appendage thrombus formation (2.1*1.5 cm), and
severely reduced overall left ventricular function (EF 30%). Coronary
computed tomography angiography (CTA) revealed no significant
abnormalities in the coronary vessels but indeed revealed an enlarged
whole heart and left ventricular myocardial hypertrophy (ranging from
14mm to 18mm thick). Cardiac magnetic resonance imaging (CMRI) showed
thrombosis in the left ventricular apical region and left heart
insufficiency, considering metabolic cardiomyopathy with delayed
enhancement of the inner apical septum and inferior lateral wall with
flocculent patches (Figure 5). Skin biopsy of the back demonstrates
thickening of the dermis and enlargement of the intra-dermal collagen
fiber gap, along with alcian blue staining positive deposits between the
swollen collagen fibers, which was consistent with the diagnosis of
scleredema (Figure 6A,6B).
Treatment was initiated concurrently after the required tests. Low
molecular weight heparin (LMWH) was injected subcutaneously to treat the
patient’s left ventricular thrombosis, rosuvastatin calcium tablets and
alirocumab were administered to lower lipids, along with sacubitril
valsartan sodium tablets, spironolactone, and furosemide tablets to
improve cardiac function and diuretic therapy. Dapagliflozin and
metformin hydrochloride tablets were used to decrease blood sugar
levels, and metoprolol tartrate tablets to regulate blood pressure and
control ventricular rate. Uremic clearance granules, Bailing capsules,
and Shenkang injection were used to protect the kidney, and febuxostat
to lower uric acid.