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1.

Epidermolysis bullosa

A group of chronic skin disorders in which fluid-filled blisters form on the skin and mucosa (the moist, inner lining of some organs and body cavities). Epidermolysis bullosa is inherited and usually starts at birth. Patients with epidermolysis bullosa may be at increased risk of squamous cell cancer of the skin. [from NCI]

MedGen UID:
41832
Concept ID:
C0014527
Disease or Syndrome
2.

Epidermolysis

MedGen UID:
569147
Concept ID:
C0333472
Pathologic Function
3.

Epidermolysis bullosa, junctional

Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes Herlitz JEB (aka lethal) and non-Herlitz JEB (aka non-lethal). In Herlitz JEB, the classic severe form of JEB, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In non-Herlitz JEB, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures. [from GeneReviews]

MedGen UID:
86898
Concept ID:
C0079301
Disease or Syndrome
4.

Junctional epidermolysis bullosa gravis of Herlitz

Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes Herlitz JEB (aka lethal) and non-Herlitz JEB (aka non-lethal). In Herlitz JEB, the classic severe form of JEB, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In non-Herlitz JEB, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures. [from GeneReviews]

MedGen UID:
36328
Concept ID:
C0079683
Disease or Syndrome
5.

Disorder of skin

Did you know that your skin is the largest organ of your body? It is, in terms of both weight, between 6 and 9 pounds, and surface area, about 2 square yards. Your skin separates the inside of your body from the outside world. It: -Protects you from bacteria and viruses that can cause infections. -Helps you sense the outside world, such as whether it is hot or cold, wet or dry. -Regulates your body temperature . Conditions that irritate, clog or inflame your skin can cause symptoms such as redness, swelling, burning and itching. Allergies, irritants, your genetic makeup and certain diseases and immune system problems can cause dermatitis, hives and other skin conditions. Many skin problems, such as acne, also affect your appearance.  [from MedlinePlus]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
6.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI_NCI-GLOSS]

MedGen UID:
5539
Concept ID:
C0019409
7.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
8.

Separation

MedGen UID:
508125
Concept ID:
C0036679
Pathologic Function
9.

Null Allele

A mutation that results in either no gene product or the absence of function at the phenotypic level. [from NCI]

MedGen UID:
457663
Concept ID:
C2985437
Cell or Molecular Dysfunction
10.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
11.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
12.

Avitene

MedGen UID:
149149
Concept ID:
C0733516
Pharmacologic Substance
13.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
14.

Genodermatosis

Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. [from MeSH]

MedGen UID:
20779
Concept ID:
C0037277
Disease or Syndrome
15.

Skin Diseases, Vesiculobullous

Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) [from MeSH]

MedGen UID:
20778
Concept ID:
C0037275
Disease or Syndrome
16.

Congenital anomaly of skin

A skin abnormality that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
17.

Linkage (Genetics)

The association in inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
18.

Congenital Abnormality

A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect. A birth defect may affect how the body looks, works or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. To find others, like heart defects, doctors use special tests. Birth defects can vary from mild to severe. Some result from exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome. Infections during pregnancy can also result in birth defects. For most birth defects, the cause is unknown. . Some birth defects can be fatal. Babies with birth defects may need surgery or other medical treatments. Today, doctors can diagnose many birth defects in the womb. This enables them to treat or even correct some problems before the baby is born. Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
19.

Generalized junctional epidermolysis bullosa, non-Herlitz type

Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. [from ORDO]

MedGen UID:
831079
Concept ID:
CN205945
Finding
20.

Adult junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes Herlitz JEB (aka lethal) and non-Herlitz JEB (aka non-lethal). In Herlitz JEB, the classic severe form of JEB, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In non-Herlitz JEB, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures. [from GeneReviews]

MedGen UID:
82798
Concept ID:
C0268374
Disease or Syndrome

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