A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

Bitar, Fadi; Najjar, Tracy; Nemer, Georges; Shigehara, Yohya; Hamie, Lamiaa; Abbas, Ossama; Kibbi, Abdul‐Ghani; Shimomura, Yutaka; Kurban, Mazen

doi:10.1111/jdv.13549

Cited by 9 publications

(16 citation statements)

References 9 publications

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“…Carvajal syndrome patients with leukonychia were also reported. 122 The disease is caused by mutations in the DSP gene encoding desmoplakin, which is an anchor protein in the formation of desmosomes. it has been mentioned that the end of exon 13 and exon 14 is the mutation hot spot for an autosomal dominant form of the disease.…”

Section: Carvajalsyndromementioning

confidence: 99%

Update of recent findings in genetic hair disorders

Shimomura

2021

The Journal of Dermatology

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Genetic hair disorders, although unusual, are not very rare, and dermatologists often have opportunities to see patients. Significant advances in molecular genetics have led to identifying many causative genes for genetic hair disorders, including the recently identified causative genes, such as LSS and C3ORF52. Many patients have been detected with autosomal recessive woolly hair/hypotrichosis in the Japanese population caused by founder mutations in the LIPH gene. Additionally, many patients with genetic hair disorders caused by other genes have been reported in East Asia including Japan. Understanding genetic hair disorders is essential for dermatologists, and the findings obtained from analyzing these diseases will contribute to revealing the mechanisms of hair follicle morphogenesis and development in humans.

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Section: Carvajalsyndromementioning

confidence: 99%

Update of recent findings in genetic hair disorders

Shimomura

2021

The Journal of Dermatology

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“…first described a Carvajal syndrome variant due to autosomal dominant DSP mutations and characterized by the absence of molars and premolars teeth in addition to palmar striate hyperkeratosis and focal sole keratoderma spreading over the Achilles tendon, WH and dilated left‐dominant cardiomyopathy (Table ). Subsequently, additional cases of autosomal dominant Carvajal syndrome, all presenting hypo‐ or oligodontia, have been reported …”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

“…Subsequently, additional cases of autosomal dominant Carvajal syndrome, all presenting hypo-or oligodontia, have been reported. [70][71][72][73] Arrhythmogenic right ventricular dysplasia, with mild palmoplantar keratoderma and woolly hair, due to DSC2 mutations In 2009, Simpson et al 74 reported two siblings suffering from a diffuse mild PPK, WH and ARVD with significant left ventricular involvement, due to an autosomal recessive DSC2 mutation ( Table 5). No additional cutaneous features have been described.…”

Section: Palmoplantar Keratoderma With Cardiomyopathy and Woolly Hairmentioning

confidence: 99%

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Guerra

Castori²,

Didona

et al. 2018

Acad Dermatol Venereol

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Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development. Other genetic diseases, which may show palmoplantar involvement, such as selected subtypes of hereditary epidermolysis bullosa, various hereditary ichthyoses and other keratinization disorders, several ectodermal dysplasias and some multisystem genetic disorders, are also briefly summarized. PPK diagnosis is based on inheritance pattern, age at onset, morphology, distribution and severity of hyperkeratosis, pattern of additional dermatological and systemic manifestations and laboratory findings. Molecular analysis is at present the gold standard to confirm the diagnosis in PPK forms due to mutations in known causative genes. No specific and curative therapy is currently available for PPKs which highly impair patients' quality of life. Topical treatments are symptomatic and offer only temporary relief. Among systemic treatments, retinoids improve disease symptoms in the majority of patients.

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“…a). The patient was previously diagnosed with Carvajal based on his clinical features that was confirmed by genetic testing . He had an intracardiac defibrillator (ICD) implanted as a result of severe left heart failure.…”

Section: Patients With Dsp Mutation and Erythrodermic Presentation Nmentioning

confidence: 99%

Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction

et al. 2018

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A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

Cited by 9 publications

References 9 publications

Update of recent findings in genetic hair disorders

Update of recent findings in genetic hair disorders

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction

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