Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy

Islam, Akm Monwarul; Rahman, Md. Toufiqur; Chowdhury, Abu Hana

doi:10.21037/cdt.2016.03.07

Cited by 6 publications

(5 citation statements)

References 13 publications

(10 reference statements)

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“…Naxos disease is a recessive association of ARVC with wooly hair and diffuse PPK [61] . Mutations in genes encoding PKG and DSP have been identified as the main causes of Naxos disease [62] .…”

Section: Dsp Cardiomyopathy Clinical Manifestationsmentioning

confidence: 99%

“…[60] Naxos/CS Naxos disease is a recessive association of ARVC with wooly hair and diffuse PPK. [61] Mutations in genes encoding PKG and DSP have been identified as the main causes of Naxos disease. [62] In the Naxos disease variety described in families from Ecuador and Israel (Arab families), two different mutations of the DSP gene (Dsp7901del1G and DspG2375R) were shown to truncate the proteins at the C-terminal domains.…”

Section: Masquerading As Arvcmentioning

confidence: 99%

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Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Yuan

Cheng

Wang

et al. 2021

Chinese Medical Journal

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Desmoplakin (DSP), encoded by the DSP gene, is the main desmosome component and is abundant in the myocardial tissue. There are three DSP isoforms that assume the role of supporting structural stability through intercellular adhesion. It has been found that DSP regulates the transcription of adipogenic and fibrogenic genes, and maintains appropriate electrical conductivity by regulating gap junctions and ion channels. DSP is essential for normal myocardial development and the maintenance of its structural functions. Studies have suggested that DSP gene mutations are associated with a variety of hereditary cardiomyopathy, such as arrhythmia cardiomyopathy, dilated cardiomyopathy (DCM), left ventricular noncompaction, and is also closely associated with the Carvajal syndrome, Naxos disease, and erythro-keratodermia-cardiomyopathy syndrome with skin and heart damage. The structure and function of DSP, as well as the clinical manifestations of DSP-related cardiomyopathy were reviewed in this article.

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Section: Dsp Cardiomyopathy Clinical Manifestationsmentioning

confidence: 99%

Section: Masquerading As Arvcmentioning

confidence: 99%

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Yuan

Cheng

Wang

et al. 2021

Chinese Medical Journal

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“…Since then, more patients have been found not only in Greece, but in Israel, Saudi Arabia, Italy, and Turkey [12]. Sporadic cases of the disease have also been identified in Bangladesh and in Canada [13,14]. The prevalence of the disease in the Greek islands has been calculated to 1:1000 [3].…”

Section: Epidemiology and Genetic Substratementioning

confidence: 99%

Naxos Disease: Current Knowledge and Future Advances

Leopoulou¹,

Mattsson²,

Kåks³

et al. 2021

Cardiomyopathy - Disease of the Heart Muscle

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Naxos disease is a genetic cardiocutaneous syndrome manifesting with a cardiomyopathy that belongs in the arrhythmogenic right ventricular cardiomyopathy (ARVC) spectrum and follows an autosomal recessive pattern. It manifests with wooly hair, keratosis of the extremities and right ventricular dysfunction. It is accompanied by risk of arrhythmias as well as sudden cardiac death (SCD), even at a young age. Furthermore, the disease often progresses to right ventricular heart failure, but can also affect the left ventricle. Patient management follows current guidelines on ARVC and principles for heart failure management. Bioengineering and research about pluripotent stem cells seem to have potential to improve future management of the disease. This chapter covers current knowledge on Naxos disease regarding clinical features, epidemiology, pathogenesis, guidelines on patient management and provides insights in research frontlines.

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“…The clinical features include wooly hair at birth, diffuse palmoplantar keratosis developing during the first year of life, and arrhythmogenic right ventricular cardiomyopathy. The last of these presents by adolescence with arrhythmia and automatic implantable cardioverter defibrillator is usually indicated which may prevent sudden death [101].…”

Section: Woolly Hairmentioning

confidence: 99%

Genetic Hair Disorders: A Review

Ahmed

Almohanna

Griggs

et al. 2019

Dermatol Ther (Heidelb)

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Hair loss in early childhood represents a broad differential diagnosis which can be a diagnostic and therapeutic challenge for a physician. It is important to consider the diagnosis of a genetic hair disorder. Genetic hair disorders are a large group of inherited disorders, many of which are rare. Genetic hair abnormalities in children can be an isolated phenomenon or part of genetic syndromes. Hair changes may be a significant finding or even the initial presentation of a syndrome giving a clue to the diagnosis, such as Netherton syndrome and trichothiodystrophy. Detailed history including family history and physical examination of hair and other ectodermal structures such as nails, sweat glands, and sebaceous glands with the use of dermoscopic devices and biopsy all provide important clues to establish the correct diagnosis. Understanding the pathophysiology of genetic hair defects will allow for better comprehension of their treatment and prognosis. For example, in patients with an isolated hair defect, the main problem is aesthetic. In contrast, when the hair defect is associated with a syndrome, the prognosis will depend mainly on the associated condition. Treatment of many genetic hair disorders is focused on treating the primary cause and minimizing trauma to the hair.

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Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy

Cited by 6 publications

References 13 publications

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Naxos Disease: Current Knowledge and Future Advances

Genetic Hair Disorders: A Review

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