What is Epidermolysis Bullosa?

Epidermolysis Bullosa or EB, is a rare, genetic skin disease. There are many different variants of the disease, with different symptom severities and root causes. These variants all manifest as painful, blisters on the skin and internal organs as a result of friction and trauma.

Three types of EB, with some variation, all caused by a different genetic mutation, have been characterized:  EB simplex (EBS), Junctional EB (JEB) and Dystrophic EB (DEB).  EBS is the most common form of EB and often the mildest, although some types of EBS (especially generalized EBS) can be quite debilitating.  JEB and DEB are relatively less common and generally affect the patient more severely.

What are the symptoms of EB?

EB is characterized by mild to severe blistering on the skin, usually beginning in infancy and continuing into adulthood.  Blisters or sores on the mouth, throat and respiratory tract also characterize severe EB.  Thickened skin on the palms of the hands or soles of the feet and thickening or absence of fingernails/toenails may also be present.  Sometimes scarring may also lead to fusing of toes and fingers that can limit functional use of the hands and feet.  Anemia is sometimes common in severely affected individuals, which may also lead to growth retardation.

How many people are affected by this disease?

Based on a large epidemiology study that was supported by the National Institutes of Health (NIH), EB is estimated to affect approximately 1 out of every 20,000 live births in the United States for the years 1986-1990.

It is estimated that there are about 15,000 to 25,000 people living with the disease in the US, although estimates vary considerably.

How did I inherit this disease?

The genes, that is the blueprints for making everything in the body and that are responsible for causing EB, are inherited by way of the X and Y chromosomes from parents.  Some forms of the disease have only one set of malfunctioning genes present in one chromosome, either the X or the Y (autosomal recessive disease), while other forms require that both chromosomes contain these abnormal genes (autosomal dominant disease).  These genes are normally responsible for making building blocks called proteins that “glue” the different layers of the skin together.  Patients with EB make abnormal proteins and sometimes do not even make these proteins at all based on faulty genetic information.

Is there a cure or any medical treatments for EB?

There are individuals with mild EB that may require little or no treatment and who never seek medical care.  Patients with moderate or severe forms of EB require family supportive care and often their quality of life is poor.  Apart from protecting their skin from trauma, patients with moderate or severe forms of EB may require the services of multiple healthcare providers, including physicians and nurses, as well as nutritionists and counselors who can provide psychological support for patients and their family members.

Currently, there is no cure for EB but only supportive care that may include wound care, use of bandages as well as pain management.  Blisters or blistering areas are wrapped in bandages that have to be changed frequently.  Preventing infection in affected areas is also a difficult task.

Intense research is on-going currently, both at the medicinal and genetic level by industry, government and academic groups.  Academic research in skin cell functional protein replacement is also active.

Where can I get more information and support?

Additional information and support can be provided by organizations such as DEBRA, listed below:

UNITED STATES

Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA of America)
75 Broad Street
Suite 300
New York, NY 10004
Toll-free: 855-CURE-4-EB
Telephone: 212-868-1573
Fax: 212-868-9296
E-mail: staff@debra.org
Website: http://www.debra.org

INTERNATIONAL

DEBRA International
Am Heumarkt 27/3
1030 Vienna
Austria
Telephone: +43 1 876 40 30-0
Fax: +43 1 876 40 30-30
E-mail: office@debra-international.org
Website: http://www.debra-international.org/

What is Vertigo?

Vertigo, which is derived from the Latin word vertere, that is ‘to turn’, is the illusion of rotation and the feeling that the environment is moving or spinning. Vertigo is a sensation caused by an imbalance in signals from the body’s sensory balance organs, including the eyes and inner ears, or abnormality in the way the brain interprets such signals.

Dizziness and vertigo are among the most common symptoms causing patients to visit a physician or the Emergency Department (ED); between 5-10% of people report symptoms of dizziness, vertigo, and imbalance at some time, and it may be as high as 40% in patients older than 40 years. It is estimated that about 4 million patients visit the ED for dizziness and vertigo[1]. Significant dizziness has been reported by 17% to 30% of adult community populations[2]. Falling can be a direct consequence of dizziness, and the risk is even greater in elderly people with other neurologic deficits and chronic medical problems.

Vertigo Causes

Causes of vertigo fall into two main categories. The first is central vertigo, which caused by a problem in the central nervous system, and may include a growth on cranial nerves called vestibular schwannoma, commonly referred to as an “acoustic neuroma”. The second is peripheral vertigo, probably caused by problems in the inner ear or middle ear. Differentiating the causes of vertigo can be helpful for providers to determine what possible treatments exist for each type.

Symptoms patients often experience with peripheral vertigo include the spinning, hearing loss, nausea, and tinnitus (ringing in the ears). In contrast, central vertigo often appears with migraines.  A condition called vestibular migraine is one of the most common causes of central vertigo.

The most common types of peripheral vertigo include Ménière’s disease, vestibular neuronitis, and Benign Paroxysmal Positional Vertigo (BPPV) .

Ménière’s disease is an inner ear disorder that is characterized by unpredictable, recurrent events and it is associated with vertigo that lasts for hours, decreased hearing or hearing loss for some period, and ringing in the ears (tinnitus). Cold sweats, nausea, and vomiting with a sense of weakness are also symptoms associated with Meniere’s disease. Patients with Ménière’s disease live in constant fear of attacks of disabling vertigo and may require family support and counseling. Many patients can manage their symptoms with diet and lifestyle modifications as well as pharmacological treatment prescribed by their physician.

Vestibular neuronitis is due to infections, causing vertigo attacks that may last for days. Patients suffering from this condition usually do not experience hearing loss. However, there are manifestations in which a bacterial infection that affects the inner ear may destroy both equilibrium and hearing functions of the affected ear, a condition known as labyrinthitis.

Chronic migraine sufferers may also experience vertigo attacks with symptoms like Ménière’s disease. This condition is called vestibular migraine and headaches may or may not manifest during a vertigo crisis.

Patients with BPPV often describe a feeling of intense spinning sensation (positional) that lasts only a few minutes (benign) and often comes and goes without any specific reason or cause (paroxysmal). A complex system of semicircular canals filled with fluid, called the labyrinth, is responsible for maintaining body balance. In patients with BPPV, the formation or dislocation of small crystals in the fluid stimulates the nerves associated with these canals and creates the sensation of spinning and nausea. Patient also have involuntary eye movements, called nystagmus, which can help doctors diagnose this condition. Treatment mainly consists of physical maneuvers by specialists with the aim of re-positioning the crystals. In a small proportion of patients with persistent vertigo after the re-positioning maneuvers, pharmacological treatment with sedatives or anti-vertiginous drugs may be necessary.

For any type of vertigo, we recommend seeking the advice of a medical professional. The accurate diagnosis and effective treatment of vertigo can be very challenging and this is an area of continuous research.

References

  1. Saber Tehrani AS, Coughlan D, Hsieh YH, et al. Rising annual costs of dizziness presentations to U.S. emergency departments. Academic emergency medicine : official journal of the Society for Academic Emergency Medicine 2013;20(7):689-96 doi: 10.1111/acem.12168[published Online First: Epub Date]|.
  2. Murdin L, Schilder AG. Epidemiology of balance symptoms and disorders in the community: a systematic review. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2015;36(3):387-92

 

Additional Resources:

http://www.entnet.org/content/dizziness-and-motion-sickness

http://www.emedicinehealth.com/vertigo/article_em.htm

http://emedicine.medscape.com/article/2149881-overview

http://emedicine.medscape.com/article/884261-overview