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Congenital pyloric atresia

MedGen UID:
870867
Concept ID:
C4025327
Congenital Abnormality
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 simplex 5C, with pyloric atresia
MedGen UID:
436922
Concept ID:
C2677349
Disease or Syndrome
Epidermolysis bullosa simplex 5C with pyloric atresia (EBS5C) is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. In reports of 2 consensus meetings for EB, Fine et al. (2000, 2008) considered EBSPA to be a 'basal' form of simplex EB because the electron microscopy shows that skin cleavage occurs in the lower basal level of the keratinocyte, just above the hemidesmosome. There is often decreased integration of keratin filaments with hemidesmosomes. See also forms of junctional EB with pyloric atresia, JEB5B (226730) and JEB6 (619817), caused by mutation in the ITGB4 (147557) and ITGA6 (147556) genes, respectively. For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).
Junctional epidermolysis bullosa with pyloric atresia
MedGen UID:
1810975
Concept ID:
C5676875
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.
Epidermolysis bullosa, junctional 6, with pyloric atresia
MedGen UID:
1803348
Concept ID:
C5676957
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.

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

Gehwolf P, Hechenleitner P, Sanal M, Profanter C, Häussler B, Härter B
Surg Laparosc Endosc Percutan Tech 2019 Jun;29(3):207-211. doi: 10.1097/SLE.0000000000000658. PMID: 30870314
Kansra M, Raman VS, Kishore K, Khanna S, Puri B, Sharma A
J Pediatr Surg 2018 Nov;53(11):2112-2116. Epub 2018 Apr 14 doi: 10.1016/j.jpedsurg.2018.04.015. PMID: 29754879
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. PMID: 24952792
Al-Salem AH
Pediatr Surg Int 2007 Jun;23(6):559-63. Epub 2007 Mar 28 doi: 10.1007/s00383-007-1903-0. PMID: 17390140
Pulkkinen L, Uitto J
Matrix Biol 1999 Feb;18(1):29-42. doi: 10.1016/s0945-053x(98)00005-5. PMID: 10367729

Diagnosis

Morton Z, Stickler E, Thelan L, Worth S, Groot S, Gates R
Am Surg 2023 Sep;89(9):3838-3840. Epub 2023 May 4 doi: 10.1177/00031348231173994. PMID: 37139809
Kansra M, Raman VS, Kishore K, Khanna S, Puri B, Sharma A
J Pediatr Surg 2018 Nov;53(11):2112-2116. Epub 2018 Apr 14 doi: 10.1016/j.jpedsurg.2018.04.015. PMID: 29754879
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. 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. PMID: 24781346
Al-Salem AH
Pediatr Surg Int 2007 Jun;23(6):559-63. Epub 2007 Mar 28 doi: 10.1007/s00383-007-1903-0. PMID: 17390140

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

Morton Z, Stickler E, Thelan L, Worth S, Groot S, Gates R
Am Surg 2023 Sep;89(9):3838-3840. Epub 2023 May 4 doi: 10.1177/00031348231173994. PMID: 37139809
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. 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. 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
Al-Salem AH
Pediatr Surg Int 2007 Jun;23(6):559-63. Epub 2007 Mar 28 doi: 10.1007/s00383-007-1903-0. PMID: 17390140

Clinical prediction guides

Gehwolf P, Hechenleitner P, Sanal M, Profanter C, Häussler B, Härter B
Surg Laparosc Endosc Percutan Tech 2019 Jun;29(3):207-211. doi: 10.1097/SLE.0000000000000658. PMID: 30870314
Yoshizato T, Satoh S, Taguchi T, Suita S, Nakano H
Fetal Diagn Ther 2002 Nov-Dec;17(6):334-8. doi: 10.1159/000065380. 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. doi: 10.1016/0022-3468(91)90616-2. PMID: 1812271

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