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Congenital pyloric atresia

MedGen UID:
446598
Concept ID:
CN003897
Finding
 
HPO: HP:0004399

Definition

Congenital atresia of the pylorus. [from HPO]

Term Hierarchy

Conditions with this feature

Pyloric atresia
MedGen UID:
75601
Concept ID:
C0266159
Congenital Abnormality
Epidermolysis bullosa with pyloric atresia
MedGen UID:
384018
Concept ID:
C1856934
Disease or Syndrome
Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.

Recent clinical studies

Etiology

Al-Salem AH, Abdulla MR, Kothari MR, Naga MI
J Pediatr Surg 2014 Jul;49(7):1078-82. Epub 2013 Oct 17 doi: 10.1016/j.jpedsurg.2013.10.009. [Epub ahead of print] PMID: 24952792
Gunaydin M, Rizalar R, Bozkurter AT, Tander B, Ariturk E, Bernay F
Afr J Paediatr Surg 2011 May-Aug;8(2):232-4. doi: 10.4103/0189-6725.86071. PMID: 22005374
Zecca E, Corsello M, Pintus C, Nanni L, Zecca S
Ital J Pediatr 2010 Jan 14;36:3. doi: 10.1186/1824-7288-36-3. [Epub ahead of print] PMID: 20180961Free PMC Article
Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J
Pediatr Res 2001 May;49(5):618-26. doi: 10.1203/00006450-200105000-00003. PMID: 11328943
Rosenbloom MS, Ratner M
J Pediatr Surg 1987 Apr;22(4):374-6. PMID: 3572700

Diagnosis

Farmakis SG, Herman TE, Siegel MJ
J Perinatol 2014 Jul;34(7):572-3. doi: 10.1038/jp.2014.7. PMID: 24968903
Al-Salem AH, Abdulla MR, Kothari MR, Naga MI
J Pediatr Surg 2014 Jul;49(7):1078-82. Epub 2013 Oct 17 doi: 10.1016/j.jpedsurg.2013.10.009. [Epub ahead of print] PMID: 24952792
Short SS, Grant CN, Merianos D, Haydel D, Ford HR
Pediatr Surg Int 2014 Jun;30(6):681-4. Epub 2014 Apr 30 doi: 10.1007/s00383-014-3505-y. [Epub ahead of print] PMID: 24781346
Mithwani AA, Hashmi A, Adil S
BMJ Case Rep 2013 Sep 24;2013 doi: 10.1136/bcr-2013-201207. PMID: 24068383Free PMC Article
Usui N, Kamiyama M, Kimura T, Kamata S, Nose K, Fukuzawa M
Pediatr Int 2013 Feb;55(1):117-9. doi: 10.1111/j.1442-200X.2012.03620.x. PMID: 23409992

Therapy

Kadowaki H, Takeuchi S, Nakahira M, Yamada C, Tamate S, Shiokawa C
Am J Gastroenterol 1981 Nov;76(5):449-52. PMID: 7337134

Prognosis

Al-Salem AH, Abdulla MR, Kothari MR, Naga MI
J Pediatr Surg 2014 Jul;49(7):1078-82. Epub 2013 Oct 17 doi: 10.1016/j.jpedsurg.2013.10.009. [Epub ahead of print] PMID: 24952792
Short SS, Grant CN, Merianos D, Haydel D, Ford HR
Pediatr Surg Int 2014 Jun;30(6):681-4. Epub 2014 Apr 30 doi: 10.1007/s00383-014-3505-y. [Epub ahead of print] PMID: 24781346
Mithwani AA, Hashmi A, Adil S
BMJ Case Rep 2013 Sep 24;2013 doi: 10.1136/bcr-2013-201207. PMID: 24068383Free PMC Article
Gunaydin M, Rizalar R, Bozkurter AT, Tander B, Ariturk E, Bernay F
Afr J Paediatr Surg 2011 May-Aug;8(2):232-4. doi: 10.4103/0189-6725.86071. PMID: 22005374
Akhtar J, Batool T, Jalil S, Ahmed S, Saleem N, Shaikh MA, Mirza F, Sultan T
J Coll Physicians Surg Pak 2005 Aug;15(8):505-6. doi: 08.2005/JCPSP.505506. PMID: 16202367

Clinical prediction guides

Yoshizato T, Satoh S, Taguchi T, Suita S, Nakano H
Fetal Diagn Ther 2002 Nov-Dec;17(6):334-8. doi: 65380. PMID: 12393961
Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J
Pediatr Res 2001 May;49(5):618-26. doi: 10.1203/00006450-200105000-00003. PMID: 11328943
Kim DK, Kim SC, Chang SN, Kim SY
Yonsei Med J 2000 Jun;41(3):411-5. doi: 10.3349/ymj.2000.41.3.411. PMID: 10957900
Hayashi AH, Galliani CA, Gillis DA
J Pediatr Surg 1991 Nov;26(11):1341-5. PMID: 1812271

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