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case_images: Clinical manifestations of our Carvajal syndrome patient with novel variants in the desmoplakin (DSP) gene. (A and B) Sparse, dark-brown, and woolly hair; (C) Oligodontia and odontoloxia; (D) Palmoplantar keratoderma (PPK) on both palms; (E and F) PPK on both toes and soles.
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case_images: She had sparse, dark-brown, and woolly hair (Figure 1A and B). She also suffers from agenesis of primary teeth with multiple oligodontia (7 teeth) and odontoloxia (Figure 1C). Striate palmoplantar keratoderma was observed on both palms, fingers, soles, halluces, and heels, with a rough and chapped surface (Figure 1D and F). Leukonychia also could be found on toenails (Figure 1E).
case_images: Electrocardiogram (ECG), Chest x-ray, and Echocardiography of our Carvajal syndrome patient with novel variants in the desmoplakin gene. (A) Echocardiography showing ventricular premature beats; (B) Chest x-ray showing dilated heart and increased cardiothoracic ratio; (C and D) Echocardiography showing dilated left and right ventricles.
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case_images: The 24-hour dynamic electrocardiogram indicated sinus rhythm, increased P wave amplitude, average heart rate of 74 beats/min, lowest heart rate of 55 beats/min, fastest heart rate of 139 beats/min, and 3561 ventricular premature beats (Figure 2A). Chest X-ray showed double-lung texture increased, together with heart shadow enlarged (Figure 2B). The diastolic and contractile functions of the left and right ventricles all decreased (Figure 2C and D).
case_images: Variant analysis in the proband and her parents. Both the parents carried a heterozygous variant c.4597C > T (p.Q1533X) in DSP gene; Proband disclosed a homozygous missense variant c.4597C > T (p.Q1533X) in exon 6 of DSP gene.
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case_images: The proband disclosed a homozygous missense variant c.4597C > T (p.Q1533X) in exon 6 of the DSP gene, ie the nucleotide at position 4597 in the coding region changed from cytosine to thymine, resulting in a senseless variant of the amino acid (Glutamine) at position 1533 (Figure 3).
case_images: Pedigree chart of the family.
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case_images: The proband's parents were verified by Sanger sequencing (MyGenostics Inc., Beijing, China): they both carried the heterozygous variant c.4597C > T (p.Q1533X) in DSP gene and were both healthy (Figure 4).  