scholarly journals Thalidomide as an effective treatment in a case of Osler Weber Rendu syndrome: a case report

2016 ◽  
Vol 7 (4) ◽  
pp. 107-109
Author(s):  
Titli Bandyopadhyay ◽  
VT Anand ◽  
Dibyendu Gangopadhyay
Keyword(s):  
Case Report ◽  
Effective Treatment ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Medical Sciences ◽  
Recurrent Epistaxis ◽  
Dominant Disease ◽  
Vascular Dysplasia

Osler Weber Rendu Syndrome (OWRS), or Hereditary Hemorrhagic telangiectasia (HHT) is an autosomal dominant disease presents with epistaxis, telangiactesia and multiorgan vascular dysplasia. Recurrent epistaxis is common in these patients and various local forms of therapy is tried to treat the condition, but there is lack of definitive and effective treatment. We present a patient of HHT with severe recurrent epistaxis successfully treated with thalidomide.Asian Journal of Medical Sciences Vol.7(4) 2016 107-109

scholarly journals Mosaic epidermolytic ichthyosis - case report

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 116-119 ◽  
Author(s):  
Marcela Sena Teixeira Mendes ◽  
Samara Silva Kouzak ◽  
Thaissa Araújo Aquino ◽  
Gustavo Henrique Soares Takano ◽  
Antonio de Padua Lima
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
The Other ◽  
Autosomal Dominant Disease ◽  
Epidermolytic Ichthyosis ◽  
Dominant Disease ◽  
Mosaic Form ◽  
Two Populations ◽  
Rare Autosomal Dominant Disease

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.

Keratoderma Hereditarium Mutilans (Vohwinkel's Syndrome) Associated with Sensorineural Deafness in an HIV Positive Man: A Case Report

2003 ◽  
Vol 1 (1) ◽  
pp. 49-50 ◽  
Author(s):  
L. Boccia ◽  
M. Perrella ◽  
P. Donofrio
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Sensorineural Deafness ◽  
Autosomal Dominant Disease ◽  
Hiv Positive ◽  
Recessive Type ◽  
Dominant Disease

Keratoderma hereditarium mutilans (KHM) or Vohwinkel's syndrome is a rare cutaneous disorder, characterized by thickening of palms and soles and by ainhum-like constrictions of the fingers and toes. KHM is usually inherited as an autosomal dominant disease, but a recessive type has occasionally been described.

scholarly journals A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Saba Ahmad ◽  
Luis Manon ◽  
Gifty Bhat ◽  
Jerry Machado ◽  
Alice Zalan ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cellular Differentiation ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Disease ◽  
Sacrococcygeal Teratoma ◽  
Dominant Disease ◽  
The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

Genetic counselling in pre-capillary pulmonary hypertension

ESC CardioMed ◽  
2018 ◽  
pp. 2558-2560
Author(s):  
Barbara Girerd ◽  
David Montani ◽  
Marc Humbert
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Genetic Counselling ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Pulmonary Capillary ◽  
Dominant Disease ◽  
Pulmonary Arterial ◽  
Biallelic Mutations

Pre-capillary pulmonary hypertension can be heritable in the context of pulmonary arterial hypertension (an autosomal dominant disease mainly due to mutations in BMPR2), and pulmonary veno-occlusive disease or pulmonary capillary haemangiomatosis (an autosomal recessive disease due to biallelic mutations in the EIF2AK4 gene). Genetic counselling can be implemented in referral centres for pulmonary hypertension as outlined in this chapter.

scholarly journals Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa

2011 ◽  
Vol 19 (4) ◽  
pp. 642-649 ◽  
Author(s):  
Sophia Millington-Ward ◽  
Naomi Chadderton ◽  
Mary O'Reilly ◽  
Arpad Palfi ◽  
Tobias Goldmann ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Murine Model ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Dominant Disease

Genetic counselling in pre-capillary pulmonary hypertension

ESC CardioMed ◽  
2018 ◽  
pp. 2558-2560
Author(s):  
Barbara Girerd ◽  
David Montani ◽  
Marc Humbert
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Genetic Counselling ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Pulmonary Capillary ◽  
Dominant Disease ◽  
Pulmonary Arterial ◽  
Biallelic Mutations

Pre-capillary pulmonary hypertension can be heritable in the context of pulmonary arterial hypertension (an autosomal dominant disease mainly due to mutations in BMPR2), and pulmonary veno-occlusive disease or pulmonary capillary haemangiomatosis (an autosomal recessive disease due to biallelic mutations in the EIF2AK4 gene). Genetic counselling can be implemented in referral centres for pulmonary hypertension as outlined in this chapter.

scholarly journals Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

2020 ◽  
Vol 9 (11) ◽  
pp. 3581
Author(s):  
Els M. de Gussem ◽  
Steven Kroon ◽  
Anna E. Hosman ◽  
Johannes C. Kelder ◽  
Martijn C. Post ◽  
...  
Keyword(s):  
Life Expectancy ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Organ Involvement ◽  
Control Group ◽  
Centers Of Excellence ◽  
Systematic Screening ◽  
The Social ◽  
Dominant Disease ◽  
Similar Survival

Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease, is characterized by telangiectases and arteriovenous malformations (AVMs). Untreated AVMs, especially in the lungs—pulmonary AVMs (PAVMs)—can result in morbidity with a decreased life expectancy. We have investigated whether HHT patients, systematically screened for HHT-related organ involvement and treated if needed, have a similar survival as persons without HHT. We included all individuals screened for HHT between 2004 and 2016 with a genetically or clinically confirmed diagnosis (HHT group) or excluded diagnosis (non-HHT control group). The social security number was used to confirm status as dead or alive in December 2019. We included 717 HHT patients and 471 controls. There was no difference in survival between the HHT and the non-HHT control group. The HHT group had a life expectancy of 75.9 years (95% confidence interval (CI) 73.3–78.6), comparable to the control group (79.3 years, 95% CI 74.8–84.0, Mantel–Cox test: p = 0.29). In conclusion, the life expectancy of HHT patients systematically screened for HHT-related organ involvement and treated if needed in an HHT center of excellence was similar compared to their controls, justifying systematic screening and treatment in HHT patients.

scholarly journals Recurrent Ulcerations in an 84-Year-Old Male Diagnosed with Hailey-Hailey Disease

2020 ◽  
Vol 12 (3) ◽  
pp. 209-212
Author(s):  
Fahad Al Qooz ◽  
Mohammed Almuharraqi ◽  
Sajjad Salam ◽  
Veena Nagaraj ◽  
Abdullah Darwish
Keyword(s):  
Quality Of Life ◽  
Steroid Therapy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Oral Antibiotics ◽  
Dominant Disease

Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is a rare inherited acantholytic dermatosis. It is an autosomal dominant disease affecting the intertriginous areas. HHD has been characterized by flaccid blisters, erosions, and macerations that are limited to flexural (friction-prone) areas. The painful blisters and erosions significantly decrease patients’ quality of life. There are multiple types of therapy related to this disorder. Many of the studies have suggested benefits from steroid therapy in addition to oral antibiotics.

scholarly journals Diagnosis of hereditary hemorrhagic telangiectasia in a pediatric patient admitted with diabetes: the utility of genetic testing

2021 ◽  
Vol 2 (3) ◽  
pp. 01-02
Author(s):  
Alvaro E. Galvis ◽  
Beatrice Batoczki ◽  
Iris S. Pecson ◽  
Evan Vidal ◽  
Craig T. Nakamura
Keyword(s):  
Genetic Testing ◽  
Pediatric Patient ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Autosomal Dominant Disorder ◽  
Case Presentation ◽  
History Of ◽  
Vascular Dysplasia

Background: Hereditary hemorrhagic telangiectasia (HHT) formerly known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder characterized by vascular dysplasia and a wide spectrum of clinical manifestations. Case presentation: We report the case of an undiagnosed pediatric patient who presented hypoxemia on clinical exam as the only suggestive feature for the presence of HHT. Conclusions: Although HHT diagnosis is based on the finding of characteristic clinical features genetic testing should also be implemented when a family history of the disease is present to help confirm or refute the diagnosis.

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