Familial mastocytosis associated with neurosensory deafness

Trevisan, Giusto; Pauluzzi, Paolo; Gatti, Alessandro; Semeraro, Argeo

doi:10.1046/j.1468-3083.2000.00018.x

Cited by 18 publications

(11 citation statements)

References 18 publications

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“…Although numerous reports of familial occurrence and concordant twin pairs have strongly suggested a genetic basis for CM, 16,17,[60][61][62][63][64][65][66][67] few data are available concerning the genetic contribution to systemic MCAD. To date, systemic MCAD has been assumed to be largely sporadic in nature 15 , and only three familial cases of systemic MCAD (two SM and one MCAS) have been reported.…”

Section: Heritability Of Systemic Mcadmentioning

confidence: 99%

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics

2012

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SummaryDespite increasing understanding of its pathophysiology, the aetiology of systemic mast cell activation disease (MCAD) remains largely unknown. Research has shown that somatic mutations in kinases are necessary for the establishment of a clonal mast cell population, in particular mutations in the tyrosine kinase Kit and in enzymes and receptors with crucial involvement in the regulation of mast cell activity. However, other, as yet undetermined, abnormalities are necessary for the manifestation of clinical disease. The present article reviews molecular genetic research into the identification of disease-associated genes and their mutational alterations. The authors also present novel data on familial systemic MCAD and review the associated literature. Finally, the importance of understanding the molecular basis of inherited mutations in terms of diagnostics and therapy is emphasized.

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Section: Heritability Of Systemic Mcadmentioning

confidence: 99%

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics

2012

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“…Although some reported cases of systemic mastocytosis with neurologic manifestations (neurosensory deafness, loss of consciousness, encephalopathy, hypoxic lesions leading to Parkinsonism), suggest central nervous system involvement, it is unsure whether it can be attributed to mast cell infiltration and/or mediators releasing [18]–[21]. Masitinib is a tyrosine kinase inhibitor (TKI) with exhibiting high affinity and selectivity in-vitro for KIT receptor and efficiency in vivo , because this molecule has been successfully tested in symptomatic patients with systemic mastocytosis [16], [22]–[24].…”

Section: Introductionmentioning

confidence: 99%

Depression in Patients with Mastocytosis: Prevalence, Features and Effects of Masitinib Therapy

et al. 2011

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Depression in patients with mastocytosis is often reported but its prevalence and characteristics are not precisely described. In addition, the impact of therapies targeting mast cells proliferation, differentiation and degranulation on psychic symptoms of depression have never been investigated. Our objective was to determine the prevalence and to describe features of depression in a large cohort of mastocytosis patients (n = 288) and to investigate the therapeutic impact of the protein kinase inhibitor masitinib in depression symptoms. The description of depression was based on the analysis of a database with Hamilton scores using Principal Component Analysis (PCA). Efficacy of masitinib therapy was evaluated using non parametric Wilcoxon test for paired data within a three months period (n = 35). Our results show that patients with indolent mastocytosis present an elevated prevalence of depression (64%). Depression was moderate in 56% but severe in 8% of cases. Core symptoms (such as psychic anxiety, depressed mood, work and interests) characterized depression in mastocytosis patients. Masitinib therapy was associated with significant improvement (67% of the cases) of overall depression, with 75% of recovery cases. Global Quality of Life slightly improved after masitinib therapy and did not predicted depression improvement. In conclusion, depression is very frequent in mastocytosis patients and masitinib therapy is associated with the reduction its psychic experiences. We conclude that depression in mastocytosis may originate from processes related to mast cells activation. Masitinib could therefore be a useful treatment for mastocytosis patients with depression and anxiety symptoms.

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“…Trevisan et al [2000] described two siblings with mastocytosis and neurosensory hearing loss, in a family segregating hereditary deafness, and Ina et al [2007] reported a 30-month-old girl with CM and bilateral neurosensory hearing loss. Mental retardation and dysmorphic features were not found in these cases, although cerebral MRI in the Ina's patient disclosed bilateral symmetric subcortical lesions in the temporo-occipital and fronto -parietal lobes.…”

Section: Discussionmentioning

confidence: 99%

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia

Salpietro

Briuglia

Cutrupi

et al. 2009

American J of Med Genetics Pt A

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Mastocytosis refers to a heterogeneous group of rare disorders characterized by an abnormal accumulation of mast cells in one or more organ systems. Cutaneous mastocytosis (CM) is the most frequent form in children and is characterized by hyperpigmented macules or papules symmetrically distributed over the trunk, and less so over the limbs, neck, and scalp. Two published articles have reported on unrelated girls presenting with mastocytosis, microcephaly, hearing loss, and hypotonia. Based on the original observation, this disorder was defined as CM with short stature, conductive hearing loss, and microtia (OMIM 248910). Here we report on a girl with similar manifestations who corroborates the existence of this rare disorder. CM, microcephaly, microtia, and/or hearing loss are the minimal diagnostic criteria. All the known patients were sporadic, but parental consanguinity in the first case argues for a possible autosomal-recessive inheritance.

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Familial mastocytosis associated with neurosensory deafness

Cited by 18 publications

References 18 publications

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics

Depression in Patients with Mastocytosis: Prevalence, Features and Effects of Masitinib Therapy

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia

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