Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

Molho‐Pessach, Vered; Sheffer, Sivan; Siam, Rula; Tams, Spiro; Siam, Ihab; Awwad, Rula; Babay, Sofia; Golender, Julius; Simanovsky, Natalia; Ramot, Yuval; Zlotogorski, Abraham

doi:10.1111/pde.12541

Cited by 24 publications

(24 citation statements)

References 23 publications

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“…1d); similar findings have previously been described. [6][7][8][10][11] Although woolly hair perhaps represents the most classical finding for DSP mutations as seen in Carvajal syndrome and skin fragility/woolly hair syndrome, 1,3 varying degrees of alopecia have also been reported, including diffuse alopecia. 6 Moreover, periungual hyperkeratosis may be a further subtle, yet noteworthy finding in our case (Fig.…”

Section: Discussionmentioning

confidence: 98%

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin

et al. 2015

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Inherited mutations in desmosome genes can present with a spectrum of skin, hair and cardiac abnormalities. Here we describe a 4-year-old Turkish boy with a cardio-cutaneous syndrome resulting from compound heterozygous nonsense mutations in desmoplakin. Early recognition of such cases by clinical awareness of the dermatological features and molecular diagnostics can improve patient management through early cardiac support, although the risk of cardiomyopathy and arrhythmias poses a major health concern.

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Section: Discussionmentioning

confidence: 98%

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin

et al. 2015

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“…). Further possible findings include blisters and erosions at sites of friction or mechanical stress and psoriasiform keratoses on extensor legs and dorsal feet . Carvajal syndrome is a consequence of desmosome dysfunction that impairs heart muscle function and hair and skin physiology.…”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

“…Further possible findings include blisters and erosions at sites of friction or mechanical stress and psoriasiform keratoses on extensor legs and dorsal feet. [64][65][66][67][68] Carvajal syndrome is a consequence of desmosome dysfunction that impairs heart muscle function and hair and skin physiology. Recently, DSP mutations have also been demonstrated to hinder gap junction function in both heart and skin cells.…”

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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“…When keratins that are produced in the hair cortex are mutated, the hair shaft is fragile and easy to break, and when the mutations are in keratins expressed in the most proximal part of the hair cortex, this leads to a more severe phenotype of complete hair loss [117,118]. Instead, when keratins expressed in the IRS are mutated, this leads to a defect in hair curvature, oftentimes evident as wooly hair [90,92,[119][120][121]. It is therefore conceivable that neuroendocrine manipulation of hair keratin expression may result in modulation of hair growth and/or hair shaft phenotype.…”

Section: Hair Growthmentioning

confidence: 99%

Neuroendocrine Controls of Keratin Expression in Human Skin

Ramot¹,

Paus²

2018

Keratin

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The human skin serves as a source for a large number of neurohormones and neuropeptides, which affect skin biology on multiple different levels. Intriguingly, this includes the control of keratin expression by neurohormones such as thyrotropin-releasing hormone, thyrotropin, opioids, prolactin, and cannabinoid receptor 1-ligands. While this neuroendocrine regulation of human keratin biology in situ is likely to be involved in the maintenance of skin and hair follicle homeostasis and may participate in skin pathology, this regulation remains to be appreciated and explored by mainstream keratin research. Here, we review recent progress in this frontier of neuroendocrine and keratin skin research, define the many open questions in the field, and elaborate how neurohormones may be harnessed to treat selected genodermatoses and other skin disorders accompanied by abnormal keratin expression.

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Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

Cited by 24 publications

References 23 publications

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin

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

Neuroendocrine Controls of Keratin Expression in Human Skin

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