نتایج جستجو برای: recessive epidermolysis bullosa

تعداد نتایج: 25672  

2013
Mohamed E. Hassan Khaled Al Ali Mona Khalaf Layla Taryam

The association between epidermolysis bullosa and congenital pyloric atresia is rare, but is a known distinct clinical entity with autosomal recessive inheritance. We report on a case of a baby girl born by cesarean section at 37 weeks’ gestation to a G7 P7 mother and weighed 2.84 kg. At birth, there was denuded skin over the right leg from the knee joint up to the middle of the right foot. Abd...

2016
Shamsudheen Karuthedath Vellarikkal Rijith Jayarajan Ankit Verma Sreelata Nair Rowmika Ravi Vigneshwar Senthivel Sridhar Sivasubbu Vinod Scaria Mohamed Badawy Abdel-Naser Regina Fölster-Holst Robert Sidbury

Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form...

2017
Robert Sidbury Regina Fölster-Holst Mohamed Badawy Hassan Tawfik

Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form...

Journal: :Canadian Anaesthetists' Society journal 1980
B Milne J K Rosales

Epidermolysis bullosa dystrophica is a rare hereditary disorder which presents significant anaesthetic problems. These include malnutrition and anaemia; electrolyte imbalance in severe cases; renal failure and amyloidosis in progressive disease; association with porphyria; a history of steroid therapy. Technical problems associated with the necessity to avoid trauma to the skin and mucous membr...

Journal: :journal of dental research, dental clinics, dental prospects 0
farhang mahboub katayoun sadr fateme heidary elham hosseini

an abnormally small oral orifice is defined as microstomia. microstomia may result from epidermolysis bullosa (eb), which consists of a group of disorders characterized by the presence of mechanical fragility of the skin with recurrent development of blisters and vesicles, resulting from minor mechanical friction or trauma. since such patients have a small oral aperture, it may be impossible to...

Journal: :Actas dermo-sifiliograficas 2009
C Siañez-González R Pezoa-Jares J C Salas-Alanis

Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapie...

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