scholarly journals Autosomal dominant epidermolytic ichthyosis

2020 ◽  
Author(s):  
Keyword(s):  
Autosomal Dominant ◽  
Epidermolytic Ichthyosis

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.

Management of Epidermolytic Ichthyosis in the Newborn

2016 ◽  
Vol 35 (1) ◽  
pp. 19-30 ◽  
Author(s):  
Mondell Avril ◽  
Cheryl Riley
Keyword(s):  
Multidisciplinary Approach ◽  
Autosomal Dominant ◽  
Ethical Issues ◽  
Successful Management ◽  
Newborn Period ◽  
Case Presentation ◽  
Bullous Disease ◽  
Epidermolytic Ichthyosis ◽  
Skin Fragility ◽  
Keratin 1

AbstractEpidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis that presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder.1 Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT1) or keratin 10 (KRT10) genes, which lead to skin fragility, blistering, and eventually hyperkeratosis. Successful management of EI in the newborn period can be achieved through a thoughtful, directed, and interdisciplinary or multidisciplinary approach that encompasses family support. This condition requires meticulous care to avoid associated morbidities such as infection and dehydration. A better understanding of the disrupted barrier protection of the skin in these patients provides a basis for management with daily bathing, liberal emollients, pain control, and proper nutrition as the mainstays of treatment. In addition, this case presentation will include discussions on the pathophysiology, complications, differential diagnosis, and psychosocial and ethical issues.

859: Autosomal Dominant Tranmission of Genitovaginal Prolapse

2005 ◽  
Vol 173 (4S) ◽  
pp. 233-234
Author(s):  
Gregory S. Jack ◽  
Raviender Bukkapatnam ◽  
Ganka Nicolav ◽  
Eric Vilain ◽  
Larissa V. Rodriguez
Keyword(s):  
Autosomal Dominant

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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