BODY SYSTEM-I

( JANUARY BATCH)
Jerin Xavier Polackal
jpolackal@newvision.ge
 CASE STUDY-1

 1. 27 year old with recorded BMI 29

 2. Complains include Backache , Muscle Weakness and Joint Pain (Knees)
 3. Difficulty Walking and Fatigue
 4. Had Multiple Bruises
 5. Right shoulder dislocation at a very young age
BODY MASS INDEX-

 Body Mass Index (BMI) is a person's weight in kilograms divided by the square of height in
meters.
 A high BMI can be an indicator of high body fatness.
 BMI can be used to screen for weight categories that may lead to health problems but it
is not diagnostic of the body fatness or health of an individual.
 Calculation of BMI of a person :-
 Weight/Height^2

 BMI ranges
 below 18.5 – you're in the underweight range.
 between 18.5 and 24.9 – you're in the healthy weight range.
 between 25 and 29.9 – you're in the overweight range.
 between 30 and 39.9 – you're in the obese range.
 MULTIPLE BRUISES

 These bruises result from microscopic tears in blood vessels under the skin.

Unexplained bruises that occur easily or for no apparent reason may indicate a
bleeding disorder, especially if the bruising is accompanied by frequent nosebleeds or
bleeding gums.
 WHAT CAUSES MULTIPLE BRUISING?

Sudden unexplained bruising or blood spots under the skin or a sudden increase

in the frequency of bruising may be caused by: A medicine , such as aspirin or blood
thinners ( anticoagulants ). Infection that causes the buildup of toxin in the blood or tissues
(sepsis ).
 SHOULDER DISLOCATION-

 A dislocated shoulder is when the head of the humerus is out of the shoulder joint. Symptoms
include shoulder pain and instability. Complications may include a Bankart lesion, Hill-Sachs
lesion, rotator cuff tear, or injury to the axillary nerve.

 Trauma that forces a joint out of place causes a dislocation. Car accidents, falls, and contact sports
such as football are common causes of this injury. Dislocations also occur during regular activities
when the muscles and tendons surrounding the joint are weak.
LEARNING OBJECTIVES (LObS)-

 Blue coloration of skin

 Hypermobile(hyperextended) joints
 Hyperelastic skin
 Muscle weaknes with MMT of 4-5
 Mild kyphoscoliosis
 Pes planus
 HYPERMOBILITY OF JOINTS:-
 If you have hypermobile joints, you're able to extend them easily and painlessly beyond the normal
range of motion. Hypermobility of the joints occurs when the tissues holding a joint together,
mainly ligaments and the joint capsule, are too loose. Often, weak muscles around the joint also
contribute to hypermobility.

 However, some people with hypermobile joints may have symptoms such as joint or muscle pain
and may find that their joints are prone to injury or even dislocation. If you do have symptoms then
you may have joint hypermobility syndrome – also referred to as benign joint hypermobility
syndrome (BJHS)
HYPERELSATICITY OF SKIN:-

Skin normally stretches and returns to its normal position if it’s well hydrated and healthy. Hyperelastic
skin stretches beyond its normal limit.
Hyperelastic skin can be a symptom of many diseases and conditions. If you have symptoms of
hyperelastic skin, talk to your healthcare provider. It’s almost exclusively caused by genetic diseases.

Collagen and elastin, which are substances found in the skin, control skin elasticity. Collagen is a form
of protein that makes up a majority of tissues in your body.
Increased elasticity — hyperelasticity — of the skin is seen when there are problems with the normal
production of these substances.

Connective tissues are a group of tissues essential for the formation and support of the human body.
Supporting and transporting other tissues and substances are its secondary duties. A defect in the
connective tissue might lead to hyperelasticity of the skin
MUSCLE WEAKNESS:-
(with MMT of 4-/5)

 Muscle weakness, or myasthenia, is a decrease in strength in one or more muscles. It is a

common symptom of muscular, neurological and metabolic disorders.
 Muscular diseases, such as muscular dystrophy and dermatomyositis (disorder
characterized by muscle inflammation), are common causes of muscle weakness. Other
common causes include neurological disorders, such as Guillain-Barre syndrome (an
autoimmune nerve disorder), amyotrophic lateral sclerosis (ALS, also known as Lou
Gehrig’s disease), stroke, and even a pinched nerve. The autoimmune neuromuscular
disorder known as myasthenia gravis is accompanied by muscle weakness along with
drooping eyelids and double vision.
WHAT IS MMT?
 Manual muscle testing is used in rehabilitation and recovery to evaluate contractile units,
including muscles and tendons, and their ability to generate forces. When used as part of
rehabilitation, muscle testing is an important evaluative tool to assess impairments and
deficits in muscle performance, including strength, power, or endurance.
 BLUE COLORATION OF SKIN:-
 People whose blood is low in oxygen tend to have a bluish color to their skin. This condition
is called cyanosis. Depending on the cause, cyanosis may develop suddenly, along with
shortness of breath and other symptoms. Cyanosis that is caused by long-term heart or lung
problems may develop slowly.
 There are four types of cyanosis:
 Peripheral cyanosis: Your limbs are not getting enough oxygen or blood flow due to low flow
or injury.
 Central cyanosis: There’s low overall oxygen available to the body, often due to abnormal
blood proteins or a low oxygen state.
 Mixed cyanosis: A combination of peripheral and central cyanosis occurs at the same time.
 Acrocyanosis: This happens around your hands and feet when you’re cold, and should
resolve after you warm back up.
 KYPHOSCOLIOSIS:-
 Kyphoscoliosis is an abnormal curve of the spine on two planes: the coronal plane, or side to side, and the saggital plane, or
back to front. It’s a combined spinal abnormality of two other conditions: kyphosis and scoliosis.
 Scoliosis causes the spine to curve abnormally on the coronal plane, meaning it twists sideways. Kyphosis causes the spine
to curve abnormally on the saggital plane, meaning it twists forward or backward, similar to a hunchback. People with
kyphoscoliosis have a spine that curves both to the side and forward or backward at the same time.
 This condition can occur at any age, including at birth. According to a case report about the condition,  80 percent of cases
are idiopathic. This means there’s no known cause of the condition.
 Symptoms of kyphoscoliosis vary. Sometimes people with the condition may only have an abnormal hunch or slouch. In
more severe cases, there can be negative effects on the lungs and heart. The muscles may not be able to function properly
for day-to-day activities.
 WHAT ARE THE CAUSES?
 Prolonged bad posture. Poor posture over time may result in postural kyphoscoliosis. It can be treated with extensive
physical therapy.
 Tuberculosis (TB). TB can weaken the spine.
 Osteochondrodysplasia. This is a type of skeletal dysplasia, a condition that impairs the growth of spinal bones, cartilage,
and connective tissue.
 Degenerative diseases. Examples include osteoporosis and osteoarthritis (OA).
 PES PLANUS:-
 Pes planus, commonly referred to as “flat feet,” is a relatively common foot deformity. Specifically,
it refers to the loss of the medial longitudinal arch of the foot where it contacts or nearly contacts the
ground. The arch of the foot is a tough, elastic connection of ligaments, tendons, and fascia between
the forefoot and the hindfoot. It serves as an adaptive support base for the entire body. It functions to
dissipate the forces of weight bearing and acts to store energy during the gait cycle. Dysfunction of
the arch complex is usually asymptomatic, but it can alter the biomechanics of the lower limbs and
lumbar spine causing an increased risk of pain and injury
 Pes planus is fairly common in infants. Infants and young children are prone to absent arches
secondary to ligamentous laxity and lack of neuromuscular control. Infants have a fat pad under the
medial longitudinal arch which serves to protect the arch during early childhood. Most children
develop normal arches by age 5 or 6. 
 PICTURE DESCRIPTION:-

ABNORMAL ABILITY TO ELEVATE THE RIGHT TOE

 This group of connective-tissue disorders is characterized by abnormal collagen

  

synthesis causing hyperextensibility of the skin, hypermobility of the joints,   and

tissue fragility, as is seen by easy bruising and delayed wound healing with atrophic
scarring.  Depending on the type, EDS can be diagnosed through laboratory studies
or clinical examination. Once the syndrome has been diagnosed, preventative
measures should be taken.     
DORSIFLEXION OF FINGERS

Dorsiflexion is the backward bending and contracting of your hand or foot. This is the extension of your foot at the ankle and your hand at the wrist. You can also  dorsiflex your fingers and toes, though usually the term
is referring to your wrist or ankle.

This results from heritable defects in the metabolism of fibrillary collagen molecules.deficiency of collagen-processing enzymes.(lysyl hydroxylase or N-collagen peptidase).
HYPOTHESIS 1
MARFANS SYNDROME
 Marfan syndrome a connective tissue disorder characterized by impaired structural
integrity in the skeleton,the eye and the cardiovascular system.with this disease,
abnormal fibrillin protein is incorporated into microfibrils along with normal
fibrillan,inhibiting the formation of functional microfibrils.
 Patients with marfan syndrome,OI,or EDS may have blue sclera due to tissue tissue
thinning that allows undelying pigment to show through

 People with Marfan syndrome are usually tall and thin with disproportionately long
arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or
severe. If your aorta — the large blood vessel that carries blood from your heart to the
rest of your body — is affected, the condition can become life-threatening.
HYPOTHESIS 2
OSTEOGENESIS IMPERFECTA
 This syndrome known as “brittle bone syndrome” is a genetic disorder of bone fragility
characterized by bones that fracture easily with minor or no trauma.
 Over 80% of cases of osteogenesis imperfect are caused by dominant mutantions to the
genes that encode the alpha 1 or alpha 2 chains in type I collagen.
 The most commom mutations cause the replacement of glycine (in –gly-X-Y-) by amino
acids with bulky side chains. Resultant structurally abnormal alpha chain prevent the
formation of the required triple helical confirmation.
 Type I and Type IV causes hypermobility of bones

 Type III is a severe form and is characteristics by multiplenfractures at birth,short

stature,spinal curvature leading to a humped back (kyphotic) appearance and blue sclera .
HYPOTHESIS 3
EHLERS-DANLOS SYNDROME
 Ehler danlos syndrome is a heterogenous group of connective tissue disorder that result
from heritable defects in metabolism of fibrillary collagen molecules
 EDS can be caused by a defiecency of collagen –processing enzymes or from mutations in
the amino acid sequences of collagen type I ,III,V.
 TREATMENT-
 physical therapy (used to rehabilitate those with joint and muscle instability)
 surgery to repair damaged joints.
 drugs to minimize pain.
 HYPOTHESIS 4
LOEYS DIETZ SYNDROME

 Loeys-Dietz syndrome is a recently-described connective tissue disorder that predisposes to the

development of aortic aneurysms and other connective tissue defects.
 Loeys-Dietz syndrome is known to be a result of mutations in the TGF-beta-receptor I (TGFBR1)
or II (TGFBR2) genes and is inherited in an autosomal dominant manner.
 Genetic testing is performed to identify the mutation and establish the diagnosis, while imaging
studies are required for evaluation of potential aneurysms.
 Surgery to repair aortic aneurysms is essential for treatment because the aneurysms of Loeys-
Dietz syndrome tend to rupture early.

 The craniofacial characteristics of Loeys-Dietz syndrome include early fusion of the skull bones
(known as craniosynostosis), widely spaced eyes (hypertelorism), and cleft palate or split uvula.
In some individuals with Loeys-Dietz syndrome, other physical abnormalities have been noted,
including defects at birth in the heart and brain, osteoporosis (weak bones), skin changes (such as
translucent skin and/or easy bruising), and defects of the spine or chest
HYPOTHESIS 5
pseudoxanthoma elasticum

 Hyperelasticity of skin
 Pseudoxanthoma elasticum (PXE) is an inherited disorder caused by mutations in
the ABCC6 transporter gene that affects connective tissue in some parts of the body.
Elastic tissue in the body becomes mineralized; that is, calcium is deposited in the tissue.
 They may also have abnormalities in the eyes, such as a change in the pigmented cells of
the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange.
Another eye abnormality known as angioid streaks occurs when tiny breaks form in the
layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the
retina may also occur, which can cause vision loss.
 MAIN HYPOTHESIS-
EHLER DANLOS SYNDROME:-
MAIN SYMPTOMS

 HYPERELASTICITY OF SKIN
 HYPERMOBILITY OF JOINTS
 SKIN IS EASILY BRUISED
 HYPERMOBILITY-

Hypermobile joints tend to be inherited.

•Symptoms of the joint hypermobility syndrome include pain in the knees, fingers, hips, and elbows.
•Often, joint hypermobility causes no symptoms and requires no treatment. Treatments are customized for each
individual based on his or her particular manifestations.

HYPERELASTICITY-
Skin which is stretched beyond the normal level is known as hyperelastic skin. It occurs when there is a rapid increase in
collagen or the production of elastin becomes low, and hence the skin loses its capacity for elasticity

EASY BRUISING OF SKIN-

Easy bruising may be a result of a seemingly insignificant compression of skin or there may be no skin injury
recollected. Easy bruising can occur when the blood vessels are weakened by diseases (such as scurvy), medications (such
as aspirin, prednisone, and prednisolone) 
EXCESS INFORMATION
WHICH IS NOT NEEDED
 27 Year old with BMI 29
 Reduction of sugar intake as described by
doctor
 Pes planus
 ADDITIONAL INFORMATION
PHYSICAL EXAMINATION
 Each type of EDS has specific symptoms that a physician can use to reach a
diagnosis. Most EDS patients have soft, velvety skin that is quite fragile. Some
patients may have scars from previous injuries that have not healed completely.
 Most EDS patients also have hypermobility in some or all joints, which can be
assessed using a scale called the Beighton scoring system: Patients are asked to
bend the joints of their fingers, thumbs, elbows, knees, and spine, and then the
greatest angle that they can comfortably reach is measured. For example, if patients
can bend their pinkie fingers back more than 90 degrees, they get a score of 1 for
each hand. A score of 5 or more on the Beighton scale indicates joint hypermobility.
 LABORATORY TEST
 Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos
syndrome are often enough to make a diagnosis. Genetic tests on a sample of
your blood can confirm the diagnosis in some cases and help rule out other problems.
 TREATMENT-

 Treatment for Ehlers-Danlos syndrome aims to prevent dangerous complications. It can also help
protect the joints, skin, and other tissues from injuries. An individual’s treatment depends on many
factors, including the type of the disorder and symptoms.
 To protect the skin, doctors recommend using sunscreen and mild soaps. Taking extra Vitamin C can
help reduce bruising. Physical therapy (exercises to strengthen the muscles supporting the joints) can
help prevent joint injuries. Braces also help stabilize joints.
 Because blood vessels are fragile, doctors will monitor people with Ehlers-Danlos syndrome and
may use medication to help keep blood pressure low and stable.
 Dislocated joints and other joint injuries are common among people with Ehlers-Danlos syndrome.
For this reason, doctors recommend they avoid:
 Strenuous (heavy) lifting
 High-impact exercise where the body pounds the ground
 Contact sports
REFERENCES-

 https://www.ehlers-danlos.com/what-is-eds/
 https://www.hypermobility.org/
 https://emedicine.medscape.com/article/947588-overview
 https://
www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-2035078
2
 https://www.medcravers.com/2018/12/lippincott-illustrated-reviews-biochemistry-seventh-
edition-7e-2018-pdf/
THANK YOU