Part Four: EB Simplex Dolwing Meara

EB Simplex Dowling Meara is the form of EB that my family and I have.  I wanted to do two post on EBS-DM, one about the medical aspect of it and another one on how EBS-DM affects my family.  

The following information was obtained from the DebRA website and from the Electronic Textbook of Dermatology.  

EB Simplex- Dowling-Meara variant (Herpetiformis) 
 
INHERITANCE: Autosomal Dominant and can occur due to a spontaneous mutation too

Common Manifestations:

• blisters and erosions present at birth or arising shortly thereafter
• acral sites (arms/hands, legs/feet) most often affected, but generalized pattern may also occur
• milia may be present at healed sites
• focal atrophy sometimes present, scarring is rare, except at sites of congenital (those present at birth) lesions
• Blisters
• Keratoderma - Thickened skin on palms of hands and soles of feet. Confluent keratoderma in EBS-DM.
• Nail dystrophy - The presence of rough, thickened or absent finger or toenails.
• Problems with the soft tissue inside the mouth
• often there is improvement at puberty especially with nail dystrophy

Less Common Manifestations:

• Anemia - A reduced amount of red blood cells, volume of red blood cells, amount of hemoglobin. Hemoglobin is the oxygen carrying portion of the red blood cell. The heme aspect of hemoglobin, is the iron compound that makes up the pigment part of the hemoglobin molecule. Anemia is more common in the severely affected individual.
• Growth retardation. This is more common in a severely affected individual.
• Gastrointestinal tract - Involvement of the GI tract may include blisters in mouth, esophagus and/or anal margins.
• esophageal involvement occurs including expectoration (throwing up) of esophageal casts (lining of the throat)
• mild flexure contractions may occur
• occasional dental abnormalities including natal teeth (teeth present at birth), anodontia

Rare Manifestations of EBS:

• Granulation tissue - The appearance of red fleshy tissue which is capillary formation during tissue healing This would be a rare occurrence in a person affected with EBS. This is more commonly seen in a person severely affected with Junctional EB.
• Dental caries (cavities) - This is more common in people affected with RDEB or JEB however, if mouth care is not performed regularly it will increase chances of cavities.
• Ocular (eye) involvement is more commonly seen in people with RDEB or JEB however, it has been reported in some forms of EBS.
• Pseudosyndactyly - Fusion of fingers and/or toes. This manifestation is more commonly seen in RDEB. In rare instances it has been reported in EBS-DM.
• Enamel hypoplasia - Underdeveloped enamel upon the teeth. This is more prevalent in patients with JEB.
• Respiratory tract involvement. Rare occurrences have been noted in the more severely affected individual.
• Genitourinary tract involvement. Rare occurrences involving the GU tract have been reported in some forms of EBS.