Recurrent Ulcerations in an 84-Year-Old Male Diagnosed with Hailey-Hailey 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.

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Endoscopic-Guided Coblation Treatment of Nasal Telangiectasias in Hereditary Hemorrhagic Telangiectasia: “How I do it”

American Journal of Rhinology and Allergy ◽

10.2500/ajra.2017.31.4427 ◽

2017 ◽

Vol 31 (3) ◽

pp. 205-206 ◽

Cited By ~ 3

Author(s):

David M. Poetker

Keyword(s):

Quality Of Life ◽

General Anesthesia ◽

Nasal Cavity ◽

Operating Room ◽

Local Anesthetic ◽

Hereditary Hemorrhagic Telangiectasia ◽

Autosomal Dominant ◽

Dominant Disease ◽

Bevacizumab Injection

Introduction Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that leads to frequent epistaxis. It can have a significant impact on quality of life. Many reports exist regarding various therapies to address the epistaxis. Materials and Methods We presented our technique for addressing the epistaxis associated with HHT. Results Patients are treated in the operating room while they are under general anesthesia. A local anesthetic is injected sublabially, and oxymetazoline is dripped into the nose. The coblation wand is used to treat the telangiectasias. Bevacizumab is then injected into the nasal cavity bilaterally. Conclusion The coblation wand, with or without adjunctive bevacizumab injection, is a technically feasible intervention for patients with HHT that all providers can perform.

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A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Human Genome Variation ◽

10.1038/s41439-020-00124-8 ◽

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.

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Genetic counselling in pre-capillary pulmonary hypertension

ESC CardioMed ◽

10.1093/med/9780198784906.003.0602 ◽

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.

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Health-Related Quality of Life (HRQOL) in Adolescents with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Value in Health ◽

10.1016/j.jval.2018.07.871 ◽

2018 ◽

Vol 21 ◽

pp. S114-S115

Author(s):

D Oberdhan ◽

JC Cole ◽

A Palsgrove

Keyword(s):

Quality Of Life ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Health Related Quality ◽

Polycystic Kidney ◽

Related Quality ◽

Health Related ◽

Autosomal Dominant Polycystic Kidney

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Exercise in the management of multiple sclerosis relapses: current evidence and future perspectives

Neurodegenerative Disease Management ◽

10.2217/nmt-2019-0029 ◽

2020 ◽

Vol 10 (2) ◽

pp. 103-115 ◽

Cited By ~ 2

Author(s):

Scott Rooney ◽

Hani Albalawi ◽

Lorna Paul

Keyword(s):

Quality Of Life ◽

Multiple Sclerosis ◽

Steroid Therapy ◽

Recovery Of Function ◽

Current Evidence ◽

Future Perspectives

Relapses are a common feature of multiple sclerosis; however, recovery from relapses is often incomplete, with up to half of people experiencing residual disabilities postrelapse. Therefore, treatments are required to promote recovery of function and reduce the extent of residual disabilities postrelapse. Accordingly, this Perspective article explores the role of exercise in relapse management. Current evidence from two studies suggests that exercise in combination with steroid therapy improves disability and quality of life postrelapse, and may be more beneficial in promoting relapse recovery than steroid therapy alone. However, given the small number of studies and methodological limitations, further studies are required to understand the effects of exercise in relapse management and the mechanism through which exercise influences relapse recovery.

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