Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome.
Naxos disease is an autosomal recessively inherited familial syndrome characterized by woolly hair, palmoplantar keratoderma and a cell adhesion cardiomyopathy, especially arrhythmogenic right ventricular dysplasia (ARVD). Carvajal syndrome is a variant of Naxos disease in which curly or woolly hair, biventricular--predominantly left ventricular involvement were seen. Mutations in genes encoding the cell adhesion proteins like plakoglobin and desmoplakin were related with these syndromes. We report a 17-year-old boy and his family findings with curly hair, palmoplantar hyperkeratosis, ARVD and left ventricular involvement. The family was of Arabic origin, and a third-degree consanguinity was reported between the parents. They are from east part of Turkey and there were no relatives from Cyclades Island (Greece). Patient's younger brother had ARVD without cutaneous manifestations of the syndrome and his grand father had mild ARVD, curly hair and palmoplantar hyperkeratosis.
Kilic
T
T
Babaoglu
K
K
Aygün
F
F
Vural
A
A
Ural
D
D
Agacdiken
A
A
Anik
Y
Y
Komsuoglu
B
B
D000293:Adolescent; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics; D001707:Biopsy, Needle; D015150:Echocardiography, Doppler; D015716:Electrocardiography, Ambulatory / Q000379:methods; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D011379:Prognosis; D013577:Syndrome; D014421:Turkey