📂 Diseases
epidermolysis bullosa simplex with pyloric atresia — Definition
Pilor atrezili epidermolizis bülloza simpleks / epidermolysis bullosa simplex with pyloric atresia
Epidermolizis is a rare and severe form of butlloza simpleksin, it is characterized by the formation of water-filled bubbles even with mild traumas in the skin and the fact that the batteryor atresis (the innate block of the output). The disease usually shows autozomal resessive inheritance and develops depending on the lack of structural proteins in basal keratinocytes on the skin. Severe gastrointestinal symptoms occur, such as vomiting, abdominal swelling and nutrition strength during newborn due to suor athesia. Multidisciplinary approach is necessary in the treatment and surgical correction of skin care and batteryor atresis is vital.
Disease Definition
🔬 Disease Definition
Epidermolizis bülloza simpleks pilor atrezisi ile birlikte, ciltte mekanik strese bağlı büller ve pilorik stenoz ile karakterize nadir bir genetik hastalıktır. Otozomal resesif geçişlidir.
🧬 Causes & Risk Factors
PLEC1, ITGA6, ITGB4 genlerindeki mutasyonlar; hemidezmozom yapısının bozulmasına yol açar.
🩺 Symptoms & Signs
Doğumda veya erken bebeklik döneminde pilorik obstrüksiyon (projektif kusma), generalize cilt bülleri, erozyonlar, tırnak distrofisi, oral mukozada veziküller.
📋 Diagnostic Methods
Klinik muayene, pilorik atrezi için ultrason veya baryumlu grafi, cilt biyopsisi (elektron mikroskopi ile hemidezmozom anomalisi), genetik test.
💊 Treatment Options
Pilorik atrezi için cerrahi düzeltme (piloroplasti), cilt bakımı (yara pansumanı, enfeksiyon profilaksisi), ağrı yönetimi, beslenme desteği.
⚠️ Complications
Sepsis, dehidratasyon, malnütrisyon, büllerin enfeksiyonu, skar oluşumu, büyüme geriliği.
Frequently Asked Questions
❓ What is Pilor atrezili epidermolizis bülloza simpleks?
Pilor atrezili epidermolizis bülloza simpleks; epidermolizis is a rare and severe form of butlloza simpleksin, it is characterized by the formation of water-filled bubbles even with mild traumas in the skin and the fact that the batteryor atresis (the innate block of the output). The disease usually shows autozomal resessive inheritance and develops depending on the lack of structural proteins in basal keratinocytes on the skin. Severe gastrointestinal symptoms occur, such as vomiting, abdominal swelling and nutrition strength during newborn due to suor athesia. Multidisciplinary approach is necessary in the treatment and surgical correction of skin care and batteryor atresis is vital.
❓ What is epidermolysis bullosa simplex with pyloric atresia in Turkish?
The Turkish equivalent of "epidermolysis bullosa simplex with pyloric atresia" is Pilor atrezili epidermolizis bülloza simpleks.
❓ Which medical field is Pilor atrezili epidermolizis bülloza simpleks related to?
This term belongs to the Diseases category.