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Review
. 2021 Jan;38(1):31-38.
doi: 10.1111/pde.14478. Epub 2020 Dec 4.

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes

Qisi Sun  1 , Lara Wine Lee  2 , E Kevin Hall  3 , Keith A Choate  1 , Robert W Elder  3
Affiliations
Review

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes

Qisi Sun et al. Pediatr Dermatol. 2021 Jan.

Abstract

Carvajal and erythrokeratodermia cardiomyopathy syndromes (EKC) are rare, inherited cardiocutaneous disorders with potentially fatal consequences in young children. Some patients display features of congestive heart failure and rapidly deteriorate; others exhibit no evident warning signs until sudden death reveals underlying heart disease. We present two patients to illustrate the characteristic hair, skin, teeth, and nail abnormalities, which-especially when distinct from that of other family members-should prompt cardiac evaluation and genetic analysis. In this article, we discuss established treatments as well as a promising, novel therapeutic that has led to nearly complete resolution of the cutaneous and cardiac pathology in EKC syndrome.

Keywords: Cardiocutaneous syndrome; Carvajal; dermatology; erythrokeratodermia cardiomyopathy; genetics.

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References

REFERENCES

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