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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Carvajal-Huerta syndrome

Introduction

Overview

Overview

Carvajal-Huerta syndrome (also known as “Striate palmoplantar keratoderma with woolly hair and cardiomyopathy”[1] and “Striate palmoplantar keratoderma with woolly hair and left ventricular dilated cardiomyopathy,”[2]) is a cutaneous condition inherited in an autosomal recessive fashion, and due to a defect in desmoplakin.[1] Striate palmoplantar keratoderma, woolly hair, and left ventricular dilated cardiomyopathy has been described in both autosomal dominant and autosomal recessive forms, but only the recessive forms have a clear association with dilated cardiomyopathy.[2]:513 The skin disease presents as a striate palmoplantar keratoderma with some nonvolar involvement, particularly at sites of pressure or abrasion.[2]:513

References

References

  1. ↑ 1.0 1.1 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 811. ISBN 1-4160-2999-0.
  2. ↑ 2.0 2.1 2.2 Freedberg, et al. (2003). Fitzpatrick’s Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi M.B,B.S [2]