Ichthyosiform erythroderma and cardiomyopathy: report of two cases and review of the literature

Abstract

We report two children with ichthyosiform erythroderma who at the ages of 9 weeks and 8 years, respectively, developed dilated cardiomyopathy, which was fatal in one and required heart transplantation in the other. A link between these conditions is considered likely, either as a primary genetic syndrome or secondary to micronutrient deficiency and/or infection. Owing to its insidious onset, cardiomyopathy may be overlooked, or symptoms attributed to the other conditions such as severe infections and failure to thrive that are common in these patients. We therefore recommend that children with congenital erythroderma are monitored closely, clinically and with echocardiography, for cardiomyopathy.

Comèl-Netherton syndrome defined as primary immunodeficiency

“…(9, 26, 27) Cardiomyopathy, which developed in one of our patients following Staphylococcus aureus sepsis, is a complication with unknown etiology, reported previously in two patients. (28)…”

A heterozygous null mutation combined with the G1258A polymorphism ofSPINK5causes impaired LEKTI function and abnormal expression of skin barrier proteins

“…He had sparse scalp hair and the hair abnormality of trichorrhexis invaginata was confirmed. At the age of 9 years, his condition was complicated by the development of an acute dilated cardiomyopathy following a presumed viral infection for which he had a heart transplant in March 1997 11 . More recently he developed a primary cutaneous CD30+ T‐cell lymphoproliferative disorder, attributed to his immunosuppression 12 and sadly he died on November 2006 as a result of cardiac complications.…”

Primary cutaneous CD30+ T-cell lymphoproliferative disorder following cardiac transplantation in a 15-year-old boy with Netherton's syndrome

“…The history of this patient until the age of 9 years has previously been reported 5 . The second child of unrelated white parents, he was born at 31 weeks' gestation by emergency caesarean section following pre‐eclampsia.…”

“…However, 11 months later, this treatment was discontinued as the patient developed congestive cardiac failure due to dilated cardiomyopathy of unknown aetiology. In March 1997, at the age of 9 years, he underwent an orthotopic cardiac transplant due to failed conservative treatment 5 . He developed acute graft rejection that responded to intravenous methylprednisolone, and was maintained on oral ciclosporin, prednisolone and azathioprine.…”