Format

Send to:

Choose Destination

Links from Books

Epidermolysis bullosa junctionalis with pyloric atresia

MedGen UID:
384018
Concept ID:
C1856934
Disease or Syndrome
Synonyms: Aplasia cutis congenita with gastrointestinal atresia; Carmi syndrome; EB-PA-ACC; Epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita; ITGA6-Related Epidermolysis Bullosa with Pyloric Atresia; ITGB4-Related Epidermolysis Bullosa with Pyloric Atresia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Genes (locations): ITGA6 (2q31.1); ITGB4 (17q25.1); PLEC (8q24.3)
OMIM®: 226730
Orphanet: ORPHA79403

Definition

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. [from GTR]

Additional descriptions

From GeneReviews
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.  https://www.ncbi.nlm.nih.gov/books/NBK1157
From OMIM
Traditionally, EB-PA has been classified as a form of junctional epidermolysis bullosa. Uitto et al. (1997) and Pulkkinen and Uitto (1998) proposed reclassification of the disorder as a 'hemidesmosomal' variant because ultrastructural findings can indicate cleavage in the hemidesmosomal region of the skin. However, in subsequent reports of consensus conferences, Fine et al. (2000, 2008) eliminated the term 'hemidesmosomal' because it added undue confusion. The disorder is considered to be a form of junctional EB because skin cleavage occurs within the lamina lucida. Hemidesmosome may be abnormal because the integrins span this region. In a study involving 265 cases of junctional or hemidesmosomal EB, Varki et al. (2006) reviewed the clinical and molecular heterogeneity of these subtypes of EB, discussed exceptions to the general rules on genotype-phenotype correlations, and noted unusual phenotypes and genetics observed in patients and families with EB.  http://www.omim.org/entry/226730
From GHR
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 an 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 medical 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.  https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia

Clinical features

Esophageal atresia
MedGen UID:
4545
Concept ID:
C0014850
Congenital Abnormality
A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.
Intractable diarrhea
MedGen UID:
148164
Concept ID:
C0743178
Disease or Syndrome
Congenital pyloric atresia
MedGen UID:
870867
Concept ID:
C4025327
Congenital Abnormality
Congenital atresia of the pylorus.
Abnormality of the genitourinary system
MedGen UID:
892370
Concept ID:
C4020895
Anatomical Abnormality
The presence of any abnormality of the genitourinary system.
Arthrogryposis multiplex congenita
MedGen UID:
2455
Concept ID:
C0003886
Finding
A non-progressive finding characterized by multiple joint contractures found throughout the body at birth.
Elevated maternal serum alpha-fetoprotein
MedGen UID:
152853
Concept ID:
C0740927
Laboratory or Test Result
An elevation of alpha-feto protein in the maternal serum.
Arthrogryposis multiplex congenita
MedGen UID:
2455
Concept ID:
C0003886
Finding
A non-progressive finding characterized by multiple joint contractures found throughout the body at birth.
Axillary pterygia
MedGen UID:
335019
Concept ID:
C1844738
Finding
Thin dental enamel
MedGen UID:
343665
Concept ID:
C1851854
Finding
Developmental hypoplasia of the dental enamel.
Ectropion
MedGen UID:
4448
Concept ID:
C0013592
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Thin dental enamel
MedGen UID:
343665
Concept ID:
C1851854
Finding
Developmental hypoplasia of the dental enamel.
Arthrogryposis multiplex congenita
MedGen UID:
2455
Concept ID:
C0003886
Finding
A non-progressive finding characterized by multiple joint contractures found throughout the body at birth.
Atrophic scars
MedGen UID:
57875
Concept ID:
C0162154
Pathologic Function
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Thin dental enamel
MedGen UID:
343665
Concept ID:
C1851854
Finding
Developmental hypoplasia of the dental enamel.
Atrophic scars
MedGen UID:
57875
Concept ID:
C0162154
Pathologic Function
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Deformity or discoloration of a fingernail or toenail.(NICHD)
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.
Congenital scars
MedGen UID:
539623
Concept ID:
C0265989
Congenital Abnormality
A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.
Anonychia
MedGen UID:
120563
Concept ID:
C0265998
Congenital Abnormality
Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
Milia
MedGen UID:
87528
Concept ID:
C0345996
Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Disease or Syndrome
The presence of developmental dysplasia of the nail.
Axillary pterygia
MedGen UID:
335019
Concept ID:
C1844738
Finding
Junctional split
MedGen UID:
867365
Concept ID:
C4021730
Disease or Syndrome
The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermolysis bullosa junctionalis with pyloric atresia
Follow this link to review classifications for Epidermolysis bullosa junctionalis with pyloric atresia in Orphanet.

Recent clinical studies

Etiology

D'Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G
J Invest Dermatol 2008 Dec;128(12):2815-9. Epub 2008 Jun 19 doi: 10.1038/jid.2008.143. PMID: 18563182
De Jenlis Sicot B, Deruelle P, Kacet N, Vaillant C, Subtil D
Ultrasound Obstet Gynecol 2005 Jun;25(6):607-9. doi: 10.1002/uog.1911. PMID: 15912478
Iacovacci S, Cicuzza S, Odorisio T, Silvestri E, Kayserili H, Zambruno G, Puddu P, D'Alessio M
Exp Dermatol 2003 Oct;12(5):716-20. PMID: 14705814
Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA
Br J Dermatol 2001 Feb;144(2):408-14. PMID: 11251584
Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G
J Clin Invest 1997 Jun 15;99(12):2826-31. doi: 10.1172/JCI119474. PMID: 9185503Free PMC Article

Diagnosis

Walker GD, Woody M, Orrin E, Mellerio JE, Levy ML
Pediatr Dermatol 2017 Jan;34(1):e61-e64. Epub 2016 Nov 4 doi: 10.1111/pde.13026. PMID: 27813154
Mencía Á, García M, García E, Llames S, Charlesworth A, de Lucas R, Vicente A, Trujillo-Tiebas MJ, Coto P, Costa M, Vera Á, López-Pestaña A, Murillas R, Meneguzzi G, Jorcano JL, Conti CJ, Escámez Toledano MJ, del Río Nechaevsky M
Exp Dermatol 2016 Apr;25(4):269-74. Epub 2016 Feb 13 doi: 10.1111/exd.12938. PMID: 26739954
Ozge A, Safak H, Ebru H, Evrim U, Bilge SE, Leyla O, Kemal KA, Volkan B
J Assist Reprod Genet 2012 Apr;29(4):347-52. Epub 2012 Feb 22 doi: 10.1007/s10815-012-9728-8. PMID: 22354727Free PMC Article
Stoevesandt J, Borozdin W, Girschick G, Hamm H, Höcht B, Kohlhase J, Volz A, Wiewrodt B, Wirbelauer J
Klin Padiatr 2012 Jan;224(1):8-11. Epub 2011 Sep 26 doi: 10.1055/s-0031-1285877. PMID: 21969027
D'Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G
J Invest Dermatol 2008 Dec;128(12):2815-9. Epub 2008 Jun 19 doi: 10.1038/jid.2008.143. PMID: 18563182

Therapy

Ozge A, Safak H, Ebru H, Evrim U, Bilge SE, Leyla O, Kemal KA, Volkan B
J Assist Reprod Genet 2012 Apr;29(4):347-52. Epub 2012 Feb 22 doi: 10.1007/s10815-012-9728-8. PMID: 22354727Free PMC Article

Prognosis

Mencía Á, García M, García E, Llames S, Charlesworth A, de Lucas R, Vicente A, Trujillo-Tiebas MJ, Coto P, Costa M, Vera Á, López-Pestaña A, Murillas R, Meneguzzi G, Jorcano JL, Conti CJ, Escámez Toledano MJ, del Río Nechaevsky M
Exp Dermatol 2016 Apr;25(4):269-74. Epub 2016 Feb 13 doi: 10.1111/exd.12938. PMID: 26739954
Stoevesandt J, Borozdin W, Girschick G, Hamm H, Höcht B, Kohlhase J, Volz A, Wiewrodt B, Wirbelauer J
Klin Padiatr 2012 Jan;224(1):8-11. Epub 2011 Sep 26 doi: 10.1055/s-0031-1285877. PMID: 21969027
Frew JW, Dopping-Hepenstal PJ, McGrath JA
Australas J Dermatol 2010 Aug;51(3):212-4. doi: 10.1111/j.1440-0960.2010.00666.x. PMID: 20695865
D'Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G
J Invest Dermatol 2008 Dec;128(12):2815-9. Epub 2008 Jun 19 doi: 10.1038/jid.2008.143. PMID: 18563182
Allegra M, Gagnoux-Palacios L, Gache Y, Roques S, Lestringant G, Ortonne JP, Meneguzzi G
J Invest Dermatol 2003 Dec;121(6):1336-43. doi: 10.1111/j.1523-1747.2003.12625.x. PMID: 14675179

Clinical prediction guides

Stoevesandt J, Borozdin W, Girschick G, Hamm H, Höcht B, Kohlhase J, Volz A, Wiewrodt B, Wirbelauer J
Klin Padiatr 2012 Jan;224(1):8-11. Epub 2011 Sep 26 doi: 10.1055/s-0031-1285877. PMID: 21969027
Frew JW, Dopping-Hepenstal PJ, McGrath JA
Australas J Dermatol 2010 Aug;51(3):212-4. doi: 10.1111/j.1440-0960.2010.00666.x. PMID: 20695865
D'Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G
J Invest Dermatol 2008 Dec;128(12):2815-9. Epub 2008 Jun 19 doi: 10.1038/jid.2008.143. PMID: 18563182
De Jenlis Sicot B, Deruelle P, Kacet N, Vaillant C, Subtil D
Ultrasound Obstet Gynecol 2005 Jun;25(6):607-9. doi: 10.1002/uog.1911. PMID: 15912478
Iacovacci S, Cicuzza S, Odorisio T, Silvestri E, Kayserili H, Zambruno G, Puddu P, D'Alessio M
Exp Dermatol 2003 Oct;12(5):716-20. PMID: 14705814

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center