Carvajal syndrome

Palmoplantar keratoderma with curly hair

“…Luis Carvajal first described Carvajal syndrome in Ecuador in 1998 . It is a rare autosomal recessive disorder characterized by striate epidermolytic palmoplantar keratoderma, wooly hair, and dilated cardiomyopathy.…”

“…This mutation produces a stop codon, leading to truncation of the C‐terminal portion of desmoplakin. Desmoplakin works as a connecting link between the desmogleins and intermediate keratin filaments . Thus tissues subject to high mechanical stress, such as heart, palms, and soles, are more commonly affected .…”

“…Woolly hair is usually present since birth, whereas palmoplantar keratoderma develops over a period of time after infancy. Other cutaneous manifestations include follicular keratotic papules on the face, abdomen, elbows, knees, and lower limbs; clubbing of the fingers; transient pruritic blisters; and psoriasiform keratosis . Oligodontia, congenital unilateral deafness, and recurrent pharyngitis are rare extracutaneous associations .…”

“…Automatic cardioverter defibrillator, antiarrhythmic drugs, and drugs for congestive heart failure are used for management of cardiac complications. Heart transplantation is an alternative option for end‐stage disease …”

“…Heart transplantation is an alternative option for end-stage disease. 1 Early recognition of this potentially life-threatening condition according to characteristic cutaneous findings can reduce morbidity and mortality.…”