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Herlitz JEB (H-JEB). In this classic severe form of JEB, blisters are present at birth or become apparent in the neonatal period.
Blistering is very severe and may lead to large regions of affected skin with significant granulation tissue. Granulation tissue characteristically appears around the nose, mouth, ears, and tips of the fingers and toes as well as in areas subject to friction such as the buttocks and the back of the head. Persistent plaques on the face can be challenging to treat. The granulation tissue manifests as large eroded patches and plaques that are friable and bleed easily and profusely. There can be extensive loss of blood, fluid, and protein. Such erosions are often life threatening because they make these infants susceptible to electrolyte imbalance and infection including sepsis and sudden death. If the infant survives, blistering may continue throughout life, generally without scarring unless there has been severe secondary infection. Scarring pseudosyndactyly of the hands and feet fusing the digits into "mitten" hands and feet with severe loss of function has been seen in a few individuals with H-JEB who survive [Fine et al 1999].
In addition to cutaneous involvement, mucosal involvement of the mouth, upper respiratory tract, esophagus, bladder, urethra, and corneas can be seen. Accumulation of granulation tissue surrounding the airway is usually subglottic and the first manifestation is a weak, hoarse cry. Eventually, compression and obstruction of the airway result in stridor and respiratory distress. Unless tracheostomy is performed, many children succumb from respiratory complications. However, managing a tracheostomy in a child with such fragile skin is difficult.
Bladder and urethral epithelial involvement can cause dysuria, urinary retention, urinary tract infections, and eventual renal compromise. Renal and ureteral anomalies that can be seen include dysplastic/multicystic kidney, hydronephrosis/hydroureter, acute renal tubular necrosis, obstructive uropathy, ureterocele, duplicated renal collecting system, and absent bladder [Puvabanditsin et al 1997, Kambham et al 2000, Nakano et al 2000, Wallerstein et al 2000, Fine et al 2004, Varki et al 2006, Pfendner et al 2007].
Esophageal narrowing has been reported, but is less common than in children with recessive dystrophic EB (RDEB).
Secondary complications common in H-JEB include the following:
Growth retardation from malnutrition as a result of poor intake and an increased nutritional demand for tissue healing
Anemia
Alopecia
Cutaneous infection
Sepsis
Electrolyte imbalance
Osteoporosis [Fewtrell et al 2006]
Squamous cell carcinoma [Mallipeddi et al 2004]
Enamel dysplasia with pitting of the teeth [Kirkham et al 2000, Nakamura et al 2006]
Most children with H-JEB do not survive past the first year of life.........................................................
..Junctional non-Herlitz EB: Generalized blistering and mucosal involvement may be evident at birth or soon after. Blistering may be mild to severe. Erosions on finger and toenails, nail dystrophy or absence of nails may be evident. Erosions and loss of hair (alopecia) upon the scalp may occur. Granulation tissue around mouth and nares may be seen. There may be some scarring and thinning of the skin on affected areas (atrophic scarring). Warmer climates can exacerbate blistering. Though laryngeal involvement (hoarse cry) may be experienced in early infancy, respiratory distress is a rare occurrence in this type of Junctional EB. The infant may suffer complications such as infection, dehydration, electrolyte imbalances, respiratory, gastrointestinal, and/or genitourinary tract involvement. These complications may lead to death. Electron microscopic evaluation of the structure of skin in a patient affected with JEB-nH shows skin separation at the level of the lamina lucida of the basement membrane zone. Variable appearance of hemidesmosomes may be visualized as well. JEB-nH mutations usually involve the genes encoding type XVII collagen also called (BP 180 ). Occasionally mutations in laminin 5 are seen. |
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What is EB?
Daisy was born with EB.
There is no cure.
What is EB?
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