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Epidermolysis bullosa 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 JUNCTIONALIS WITH PYLORIC ATRESIA; EPIDERMYLOSIS 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
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Genes: PLEC; ITGB4; ITGA6
Cytogenetic locations: 17q25.1; 2q31.1; 8q24.3
OMIM®: 226730
Orphanet: ORPHA79403

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa with Pyloric Atresia
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 GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Ellen G Pfendner  |  Anne W Lucky   view full author information

Additional descriptions

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.  http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia

Clinical features

Ureteral stenosis
MedGen UID:
504328
Concept ID:
CN000071
Finding
The presence of a stenotic, i.e., constricted ureter.
Abnormality of the genitourinary system
MedGen UID:
504347
Concept ID:
CN000115
Finding
The presence of any abnormality of the genitourinary system.
Abnormality of the eyelid
MedGen UID:
446359
Concept ID:
CN000460
Finding
An abnormality of the eyelids.
Ectropion
MedGen UID:
504540
Concept ID:
CN000617
Finding
An outward turning (eversion) or rotation of the eyelid margin.
Hypoplasia of dental enamel
MedGen UID:
501010
Concept ID:
CN005491
Finding
Developmental hypoplasia of the dental enamel.
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Axillary pterygia
MedGen UID:
335019
Concept ID:
C1844738
Finding
Pterygium
MedGen UID:
504703
Concept ID:
CN000994
Finding
Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
Polyhydramnios
MedGen UID:
504854
Concept ID:
CN001423
Finding
The presence of excess amniotic fluid in the uterus during pregnancy.
Pyloric stenosis
MedGen UID:
18780
Concept ID:
C0034194
Finding
Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants.
Duodenal stenosis
MedGen UID:
348189
Concept ID:
C1860791
Finding
Esophageal atresia
MedGen UID:
505062
Concept ID:
CN001837
Finding
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Intractable diarrhea
MedGen UID:
425085
Concept ID:
CN001846
Finding
Congenital pyloric atresia
MedGen UID:
446598
Concept ID:
CN003897
Finding
Congenital atresia of the pylorus.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Anonychia
MedGen UID:
108999
Concept ID:
C0600021
Finding
Axillary pterygia
MedGen UID:
335019
Concept ID:
C1844738
Finding
Atrophic scars
MedGen UID:
377527
Concept ID:
C1851796
Finding
Nail dysplasia
MedGen UID:
384044
Concept ID:
C1857047
Finding
Milia
MedGen UID:
504701
Concept ID:
CN000991
Finding
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Aplasia cutis congenita
MedGen UID:
504702
Concept ID:
CN000992
Finding
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.
Pterygium
MedGen UID:
504703
Concept ID:
CN000994
Finding
Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
Junctional split
MedGen UID:
505518
Concept ID:
CN003015
Finding
The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.
Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Nail dystrophy
MedGen UID:
506219
Concept ID:
CN007394
Finding
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Elevated maternal serum alpha-fetoprotein
MedGen UID:
505876
Concept ID:
CN005273
Finding
An elevation of alpha-feto protein in the maternal serum.
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Atrophic scars
MedGen UID:
377527
Concept ID:
C1851796
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGEpidermolysis bullosa with pyloric atresia

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. [Epub ahead of print] 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

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 18563182
Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA
Br J Dermatol 2001 Feb;144(2):408-14. PMID: 11251584
Turco AE, Peissel B, Rossetti S, Selicorni A, Manoukian S, Brusasco A, Tadini G, Galimberti A, Tassis B, Turolla L
Am J Med Genet 1993 Dec 1;47(8):1225-30. doi: 10.1002/ajmg.1320470820. PMID: 8291561

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. [Epub ahead of print] PMID: 22354727Free PMC Article

Prognosis

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. [Epub ahead of print] 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. [Epub ahead of print] 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
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. [Epub ahead of print] 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. [Epub ahead of print] 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

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