Epidermolysis bullosa with pyloric atresia
עודכן לאחרונה 18 אוג 2023
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Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.
תיאור
Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.
People with EB-PA are also born with pyloric atresia, which is a blockage (obstruction) of the lower part of the stomach (the pylorus). This obstruction prevents food from emptying out of the stomach into the intestine. Signs of pyloric atresia include vomiting, a swollen (distended) abdomen, and an absence of stool. Pyloric atresia is life-threatening and must be repaired with surgery soon after birth.
Other complications of EB-PA can include fusion of the skin between the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). Some affected individuals are also born with malformations of the urinary tract, including the kidneys and bladder.
Because the signs and symptoms of EB-PA are so severe, many infants with this condition do not survive beyond the first year of life. In those who survive, the condition may improve with time; some affected individuals have little or no blistering later in life. However, many affected individuals who live past infancy experience severe health problems, including blistering and the formation of red, bumpy patches called granulation tissue. Granulation tissue most often forms on the skin around the mouth, nose, fingers, and toes. It can also build up in the airway, leading to difficulty breathing.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Carmi syndrome
EB-PA
Junctional epidermolysis bullosa with pyloric atresia
PA-JEB
Related patient information and medicines
Patient information leaflet
מום לב מולד
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Patient information leaflet
תסמונת דאון
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נוגדי עווית
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Patient information leaflet
בחילות והקאות
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Patient information leaflet
היצרות פילורית
Pyloric stenosis affects between 2 and 5 out of 1,000 newborn babies. It causes a blockage of food at the stomach outlet (pylorus). The main symptom is projectile vomiting after every meal causing weight loss and dehydration. A small operation is needed, which cures the problem. What is pyloric stenosis. The outlet of the stomach into the small.
Patient information leaflet
לחיות עם מצב כרוני
A long-term condition cannot be cured but its symptoms and complications may be controlled with treatment. Examples are arthritis, asthma, diabetes, epilepsy and high blood pressure. Long-term conditions can have an effect on your role within the family, your job, where you live, your education and your finances. However, there are many sources of.
קריאה נוספת והפניות
- Epidermolysis bullosa with pyloric atresia; MedlinePlus, National Library of Medicine.
- Lucky AW, Gorell E. Epidermolysis Bullosa with Pyloric Atresia. 2008 Feb 22 [updated 2023 Jan 26]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1157/
- Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol. 2005 Jan;124(1):111-5. doi: 10.1111/j.0022-202X.2004.23564.x.
- Pfendner EG, Bruckner A, Conget P, Mellerio J, Palisson F, Lucky AW. Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. Int J Dermatol. 2007 Aug;46(8):781-94. doi: 10.1111/j.1365-4632.2007.03307.x. No abstract available.
- Pulkkinen L, Kim DU, Uitto J. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). Am J Pathol. 1998 Jan;152(1):157-66.
- Pulkkinen L, Kimonis VE, Xu Y, Spanou EN, McLean WH, Uitto J. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997 May;6(5):669-74. doi: 10.1093/hmg/6.5.669.
- Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 1999 Feb;18(1):29-42. doi: 10.1016/s0945-053x(98)00005-5.
- Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet. 2006 Aug;43(8):641-52. doi: 10.1136/jmg.2005.039685. Epub 2006 Feb 10.
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