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Epidermolysis bullosa simplex 5C, with pyloric atresia(EBS5C)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: EBS5C; Epidermolysis bullosa simplex with pyloric atresia; PLEC-Related Epidermolysis Bullosa with Pyloric Atresia; PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia
SNOMED CT: Epidermolysis bullosa simplex with pyloric atresia (716701004); Epidermolysis bullosa simplex co-occurrent with pyloric atresia (716701004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): PLEC (8q24.3)
Monarch Initiative: MONDO:0012807
OMIM®: 612138
Orphanet: ORPHA158684


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). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.

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.  https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia

Clinical features

From HPO
Congenital pyloric atresia
MedGen UID:
Concept ID:
Congenital Abnormality
Congenital atresia of the pylorus.
MedGen UID:
Concept ID:
Congenital Abnormality
Underdevelopment of the external ear.
Flexion contracture
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Concept ID:
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
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Concept ID:
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Underdeveloped nasal alae
MedGen UID:
Concept ID:
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Anteverted nares
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Concept ID:
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Fragile skin
MedGen UID:
Concept ID:
Skin that splits easily with minimal injury.
Aplasia cutis congenita
MedGen UID:
Concept ID:
Congenital Abnormality
Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC.
Abnormal blistering of the skin
MedGen UID:
Concept ID:
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Intra-epidermal blistering
MedGen UID:
Concept ID:
A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.
MedGen UID:
Concept ID:
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Deeply set eye
MedGen UID:
Concept ID:
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermolysis bullosa simplex 5C, with pyloric atresia
Follow this link to review classifications for Epidermolysis bullosa simplex 5C, with pyloric atresia in Orphanet.

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