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Epidermolysis bullosa simplex, Ogna type(EBS5A)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: EBS5A; EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE; Pidermolysis bullosa simplex 5A, Ogna type
SNOMED CT: Epidermolysis bullosa simplex, Ogna type (398071000); Epidermolysis bullosa simplex of Ogna (398071000)
Modes of inheritance:
Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): PLEC (8q24.3)
Monarch Initiative: MONDO:0007555
OMIM®: 131950
Orphanet: ORPHA79401

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; renal and/or ureteral anomalies; and protein-losing enteropathy. The course of EB-PA is usually severe and most often lethal in the neonatal period. Those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, diaper area, 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 epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, and corneal abnormalities. [from GeneReviews]
Anne W Lucky  |  Emily Gorell   view full author information

Additional descriptions

Epidermolysis bullosa simplex, Ogna type (EBS5A) is an autosomal dominant skin disorder characterized by onset at birth of skin blistering, mainly acral but occasionally widespread. The course tends to be mild, with postlesional violaceous and hypopigmented macules (summary by Has et al., 2020). Electron microscopy reveals aberrant ultrastructure of hemidesmosomal attachment plates that is not seen in classic forms of EBS (see, e.g., EBS1A, 131760) caused by mutation in keratin-5 (148040) or -14 (148066) (Koss-Harnes et al., 2002). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).  http://www.omim.org/entry/131950
From MedlinePlus Genetics
Several other variants of epidermolysis bullosa simplex have been proposed, but they appear to be very rare.

In addition to the four major types described above, researchers have identified another skin condition related to epidermolysis bullosa simplex, which they call the Ogna type. It is caused by mutations in a gene that is not associated with the other types of epidermolysis bullosa simplex. It is unclear whether the Ogna type is a subtype of epidermolysis bullosa simplex or represents a separate form of epidermolysis bullosa.

Epidermolysis bullosa simplex with mottled pigmentation is characterized by patches of darker skin on the trunk, arms, and legs that fade in adulthood. This form of the disorder also involves skin blistering from early infancy, hyperkeratosis of the palms and soles, and abnormal nail growth.

Another form of epidermolysis bullosa simplex, known as the other generalized type (formerly called the Koebner type), is associated with widespread blisters that appear at birth or in early infancy. The blistering tends to be less severe than in the Dowling-Meara type.

The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. Extensive, severe blistering can occur anywhere on the body, including the inside of the mouth, and blisters may appear in clusters. Blistering is present from birth and tends to improve with age. Affected individuals also experience abnormal nail growth and hyperkeratosis of the palms and soles.

The mildest form of epidermolysis bullosa simplex, known as the localized type (formerly called the Weber-Cockayne type), is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. Later in life, skin on the palms of the hands and soles of the feet may thicken and harden (hyperkeratosis).

Although the types differ in severity, their features overlap significantly, and they are caused by mutations in the same genes. Most researchers now consider the major forms of this condition to be part of a single disorder with a range of signs and symptoms.

Researchers have identified four major types of epidermolysis bullosa simplex.

Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.  https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-simplex

Clinical features

From HPO
Bruising susceptibility
MedGen UID:
Concept ID:
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Skin fragility with non-scarring blistering
MedGen UID:
Concept ID:
Onychogryposis of toenails
MedGen UID:
Concept ID:
Anatomical Abnormality
Thickened toenails.
Hypoplastic dermoepidermal hemidesmosomes
MedGen UID:
Concept ID:
Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermolysis bullosa simplex, Ogna type
Follow this link to review classifications for Epidermolysis bullosa simplex, Ogna type in Orphanet.

Recent clinical studies


Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
Pfendner E, Rouan F, Uitto J
Exp Dermatol 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x. PMID: 15810881


Pfendner E, Rouan F, Uitto J
Exp Dermatol 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x. PMID: 15810881


Pfendner E, Rouan F, Uitto J
Exp Dermatol 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x. PMID: 15810881

Clinical prediction guides

Winter L, Wiche G
Acta Neuropathol 2013 Jan;125(1):77-93. Epub 2012 Aug 3 doi: 10.1007/s00401-012-1026-0. PMID: 22864774
Pfendner E, Rouan F, Uitto J
Exp Dermatol 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x. PMID: 15810881
Mulley JC, Nicholls CM, Propert DN, Turner T, Sutherland GR
Am J Med Genet 1984 Nov;19(3):573-7. doi: 10.1002/ajmg.1320190320. PMID: 6507503

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