Carvajal syndrome. A rare case.

How to Cite

Phiske M.M., Jerajani H.R., Indurkar V.A., Mahajan A.U. 2007. Carvajal syndrome. A rare case. Eur. J. Pediat. Dermatol. 17 (4):201-4.

Authors

Phiske M.M. Jerajani H.R. Indurkar V.A. Mahajan A.U.
pp. 201-204

Abstract

We report a case of an 8-year-old male who presented with multiple striate and focal yellow to grey keratoderma on palms and soles and woolly hair on the entire scalp from the age of 1 year. The microscopic examination of the hair was normal. Mild cardiomegaly with straightening of left heart border was seen on chest X-ray. ECG showed evidence of pulmonary P. Left ventricular cardiomyopathy was detected on 2-D Echo. Histopathology from a palmar lesion was suggestive of keratoderma. The combination of features of woolly hair, palmoplantar keratoderma and left ventricular hypertrophy were suggestive of Carvajal syndrome, which is a familial cardiocutaneous syndrome consisting of woolly hair, palmoplantar keratoderma and heart disease.

Keywords

Carvajal syndrome, Woolly hair, Palmoplantar keratoderma, Left ventricular hypertrophy