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SKIN DISEASES: epidermolysis bullosa
Symptoms: Epidermolysis bullosa - is a group of inherited chronic noninflammatory skin diseases, in which the epidermis is loosely attached to the dermis and readily detaches, forming large blisters and erosions even after minor mechanical friction or slight trauma.
There are different subtypes of epidermolysis bullosa, classified according to skin morphology (the location of skin dissolution and the depth of blisters' location within the skin layers):
Epidermolysis bullosa simplex (EBS; intraepidermal skin separation)
in EB simplex blisters are formed above the basement membrane*, within the basal keratinocyte of the epidermis. EB simplex usually is associated with little or no extracutaneous involvement, while in others the more severe forms of EB, blisters are not confined to the outer skin. They may may produce significant multiorgan system involvement,- blisters develop inside the body, in such places as the linings of the mouth, esophagus, stomach, intestines, upper airway, bladder, and the genitals.
Mild EBS:
– Weber-Cockayne (EBS-WC) - is the most common form of EBS. Blistering most frequently occurs on the palms and soles, and usually is preceded by a clearly identified traumatic event. This form of EBS may be accompanied by hyperhidrosis.
Severe EBS: usually onset of blisters occurs at or shortly after birth, ivolving hands, feet and extremities.
– Koebner (EBS-K) - is characterized by palmoplantar hyperkeratosis and erosions
– Dowling-Meara (EBS-DM) - caused by missense mutation in KRT5 (E477K) or one of two missense mutations in KRT14 (R125C and R125H), involves mucous membranes
– Mottled Pigmentation (EBS-MP) - caused by one missense mutation in KRT5 (I161S) or by missense mutations in the plectin gene
* Basement membrane also called basal lamina - is a layer on which epithelium sits. It is composed of the lumina lucida that is adjacent to the epithelial cells and composed of laminin (a proteoglycan) and collagen (Type IV) and the lumina densa composed of collagen (Type VII).
Junctional epidermolysis bullosa (JEB, skin separation in lamina lucida)
in junctional EB blisters are formed at the level of the lamina lucida within the basement membrane zone.
Lethal JEB:
– Herlitz (JEB letalis) - is characterized by generalized blistering at birth with characteristic periorificial erosions around the mouth, eyes, and nares, often accompanied by significant hypertrophic granulation tissue and internal complications, including hoarse cry, cough and other respiratory difficulties. It arises from an absence or a severe defect in expression of the anchoring filament glycoprotein laminin 5. Usually patients suffering from JEB letalis do not survive past infancy.
Non-lethal JEB:
– JEB mitis - is characterized by generalized blistering with possible periorificial erosions and hypertrophic granulation tissue. This form of JEB is not accompanied by respiratory difficulties (as in case of Herlitz form), instead scalp, nail, tooth abnormalities and blistering localized to the intertriginous regions may appear.
– Generalized atrophic benign epidermolysis bullosa (GABEB) - is a generalized benign type of JEB, presenting at birth, that is characterized by generalized cutaneous blistering, worsened by increased ambient temperature. Common clinical manifestations are: significant teeth decay, nail dystrophies and alopecia. Patients with GABEB have the typical life span and the potential to normally carry of a pregnancy.
Dystrophic epidermolysis bullosa (DEB, sublamina densa separation)
DEB is a form of EB that can lead to scarring, it occurs in a deeper tissue level; the sub-lamina densa region (beneath the lamina densa) within the upper dermis. The disease DEB is caused by genetic defects (or mutations) within the molecule type VII collagen (collagen VII).
Hemidesmosomal epidermolysis bullosa (HEB)
HEB is a form of epidermolysis bullosa, which produces blistering at the hemidesmosomal level in the most superior aspect of the basement membrane.
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