Elhers-Danlos Syndrome

The disease progression was discovered, annotated and observed over a several periods. The 1st period, the classical period, described the cutaneous disorder

Affecting 1 in every 18,000 people, Adrenoleukodystrophy (ALD) is a genetic disease that destroys the myelin sheath surrounding a brain neuron. A brain neuron is an essential cell body that is responsible for muscle contractions and ultimately, our ability to move. Adrenoleukodystrophy is a devastating genetic mutation that affects X-chromosomes in both males and females. However, because males only have one X-chromosome, the outcome is catastrophic.

Ehlers-Danlos syndrome (EDS) is a clinical diagnosis and is a connective tissue disorder characterized by a variety of degrees of joint hypermobility, skin extensibility and tissue fragility. If you have the vascular variety of EDS there is a likely 50% chance it could be passed down from parent to child. When trying to clinically define the pain in EDS, the findings are poor. There are nine different types of EDS and each type is distinguished from others but that depends on the system involved. “Most types of EDS are inherited as autosomal dominant trait, although x-linked and autosomal recessive types have been described” (Beighton). EDS type III is the most common disorder with presenting with generalized joint hypermobility

It is an autoimmune condition. It is also inherited and also can be associated with medical conditions.

Epidermodysplasia verruciformis is one of the most defying horrific rare diseases in the world. Epidermodysplasia verruciformis is also called Lewandowsky-Lutz dysplasia, Lutz-Lewandowsky, and the tree man disease. Epidermodysplasia verruciformis is a recessive hereditary genetic skin disorder. Partial defects in cell-mediated immunity have been demonstrated in this disease. Numerous warts appear on the hands and feet sometimes all of the over the body. Certain people with this condition usually began to show symptoms between the ages of one through twenty. It usually gets worse when they become middle aged. There are different causes, diagnosis, cures, treatments and symptoms to epidermodysplasia verruciformis.

Ehlers Danlos syndrome has many different types with unique qualities. The most dominant type, hypermobility type, causes subluxation, dislocation and even tears in the joints. Vascular type, which is regarded as the most serious type, can cause organ or arterial rupture. Classical type has most of the qualities of Hypermobility type as well as hyperextendability of the skin. This is just to name a few of the six predominant types of EDS.

Dandy-Walker Syndrome or Dandy-Walker Malformation is a congenital malformation of the cerebellum and the fluid filled space surrounding it. The malformation can include an enlargement of the fourth ventricle, a partial or complete absence of the space between the two hemispheres of the cerebellum (called the vermis), and a cyst formation near the lowest part of the skull (National Institute of Neurological Disorders and Stroke [NINDS], 2016). Dandy-Walker Syndrome is found in approximately 1 of 25,000 to 35,000 live births and is more prevalent in females than males (NORD-National Organization for Rare Disorders, 2008). Although an exact case is not known, the syndrome may be a result of defects in the embryonic development of the cerebellum. Research has found that in some cases patients have chromosomal abnormalities. Dandy-Walker may also be caused by genetic abnormalities or environmental factors, teratogens (NORD-National Organization for Rare Disorders, 2008). Maternal diabetes and infections passed through the mother to the fetus may also result in a child born with Dandy-Walker Syndrome (Childrens National Health System, 2016).

A 43 year old woman presented with a one year history of abdominal pain and constipation. She also gave a history of nodules in her mouth which biopsy showed papilloma (Figure A). In endoscopy nodularity of the esophageal mucosa was seen in the entire length and a single nodule was seen on the epiglottis. Coarse nodularity was seen in the stomach from cardia and fundus to the antrum. Nodularity of the bulb and D2 was also seen and multiple polyps of different sizes were seen in colon (Figure B) (Video 1). Biopsies was taken from these polyps and reported as hamartomatous polyps.

Ehlers-Danlos syndrome (EDS), classic type is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. It includes two previously designated subtypes (EDS type I and EDS type II) that are now recognized to form a continuum of clinical findings. The skin is smooth, velvety to the touch, and hyperelastic; i.e., it extends easily and snaps back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is delayed, and stretching of scars after apparently successful primary

address whether the disease is inherited by the parents, or if it is a chromosomal error. Finally,

Ehler-Danlos syndrome (EDS) is a condition that have multiple types. They are; arthrochalasia, classical, dermatosparaxis, hypermobility, kyphoscoliosis, vascular, and others. My focus will be on the Classical type of EDS. Classical Type EDS affects 1/20,000-40,000 people and is characterised by; skin fragility, unsightly bruising and scarring, MSK discomfort. It affects the connective tissues of the body such as ligaments and tendons. Individuals with EDS have a susceptibility to osteoarthritis. It is estimated that 50% of affected individuals inherited it from an affected parent and 50% have a de novo mutation causing the disease.

In July, 2006, FDA approved the drug Elaprase, before that this drug was not aloud to be sold in the United States. Now Elaprase is one of the major treatments for Hunter syndrome. This particular disease is known to be found in children 1 to 3 years of age, this disease creates a defect in the human body by not manufacturing the chemical iduronate 2 sulfatase. The human body needs this chemical to help break down the sugars made in the body. Symptoms found in having this disease could be joint stiffness, and growth delay. In severe cases one may see lung and heart problems. Elaprase was approved mainly for the fact of how much success it had on patients. After the 53 week trial of Elaprase many patients that experienced the infusions compared

Immediately an individual diagnosed with Jouberts Syndrome needs occupational therapy. Joubert Syndrome is a disorder that affects the cerebellar vermis. The part of the brain that controls balance and coordination, which is located between the left and the right side of the brain (Joubert syndrome, 2014). Occupational Therapy can help with the physical, emotional, and cognitive senses of each individual (Kennedy, 2016). Occupational Therapy should be used on all people diagnosed with Jouberts Syndrome.

Epidermolysis Bullosa the most rarest and painful skin condition ever known to modern medicine, this condition is an inherited gene that is Autosomal, meaning Y and X chromosomes. EB can either be Autosomal Dominant or Receive depending on the type of EB a person has, also this Condition affects a protein that holds skin together with out this protein working or functioning the skin can have a faulty structure resulting to the skin not being as strong as it needs to be. With the skin being very sensitive to movement and friction it can be difficult to move, eat and the person is prone to infection and a higher ricks of skin cancer.

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000