A rare association between constrictive pericarditis and congenital ichthyosis

Constrictive pericarditis (CP) is a condition characterized by scarring, fibrosis and a noncompliant pericardium sac, which prevents diastolic filling of the cardiac chambers. Worldwide, the most common causes of CP are tuberculosis, viral infection, cardiothoracic surgery and irradiation therapy. However, the underlying cause is unknown in many cases, as CP presents insidiously with symptoms of right‐sided heart failure some time following the precipitating cause. Surgical pericardiectomy is the most effective therapy for symptomatic patients who are refractory to medical management. A 17‐year‐old boy, with known nonbullous congenital ichthyosiform erythroderma (CIE), presented with tachypnea and extreme generalized oedema (anasarca) (Fig. 1).1 Blood tests showed mild normocytic anaemia and normal renal, liver and thyroid function. Test results showed mild elevation of C‐reactive protein, normal albumin and immunoglobulin levels, and negative results for autoantibodies and for Quantiferon screen for tuberculosis. Chest radiography showed a large right pleural effusion with overlying atelectasis and leftward mediastinal shift. Aspiration of the pleural effusion revealed exudate. Bacterial culture, Ziehl–Neelsen stain for acid‐fast bacteria and cytology screening for malignancy were all negative. Patient's back, with nonbullous congenital ichthyosiform erythroderma. The patient was prescribed oral furosemide and spironolactone, but despite the loss of 6 kg in fluid weight, he remained symptomatic. Echocardiography showed mixed echodensity pericardial thickening of 7–10 mm anterior and posterior to the heart. This was associated with respiratory variation in left ventricular cavity size, and a septal bounce indicative of interventricular volume dependence caused by extrinsic constriction of both ventricles (Fig. 2a,b).2 Apical four chamber view of the heart with a normal configuration in expiration (a) and a septal bounce causing left ventricular constriction in inspiration (b). Based on the clinical and laboratory findings, the patient was diagnosed with CP causing right and left circulatory congestion refractory to medication. Surgery was performed to excise the pericardium, which was sent for histology and culture (Fig. 3a,b). (a,b) Chronic pericarditis with fibrosis; (b) chronic pericarditis with fibrosis and minimal inflammation, and a scanty infiltrate of lymphocytes and macrophages. Haematoxylin and eosin, original magnification (a) × 100 and (b) × 200. Histology of the pericardium showed marked paucicellular fibrosis, with minimal chronic inflammation and focal incipient dystrophic calcification. Granulomas were not found. Constrictive pericarditis is characterized by scarring and loss of elasticity of the pericardium, resulting in external impedance of cardiac filling.3 It is caused by fibrosis and thickening of the pericardium, which inhibits the diastolic filling of the heart.4 The pericardium appears to limit the distension of the myocardium, preventing overall dilatation, and it also fixes the heart within the mediastinum. Recognition of CP is clinically important, but often difficult and challenging, despite the many diagnostic approaches now available. In the current case, it was initially difficult to achieve a diagnosis, and almost all transudative and exudative causes of pleural effusion were excluded, such as liver cirrhosis, nephrotic syndrome, cardiomyopathy, hypothyroidism, tuberculosis, lymphoma and malignancy. CIE can sometimes associate with protein loss, which can manifest as hypoalbuminaemic oedema. However, serum albumin was normal in our patient. There are some associations in the literature relating to ichthyosis, such as skin manifestations and pericardial disease including systemic scleroderma, systemic lupus erythematosus, paraneoplastic syndromes, tuberculosis and atypical infectious diseases. However, our patient was investigated extensively, and found to be negative for autoantibodies and infective markers, which excluded these rare associations. In conclusion, this case shows an unusual association between CP and nonbullous CIE, which has not been described previously in the literature. Conflict of interest: the authors declare that they have no conflicts of interest.