Collagen is the most abundant protein in mammals and plays an important structural role. There are 28 types of collagen that serve different functions. Collagen disorders can be genetic, autoimmune, or due to other causes. They commonly cause symptoms like skin rashes, fatigue, and joint/muscle pain. Major collagen disorders include Ehlers-Danlos syndrome, lupus, scleroderma, Sjogren's syndrome, and epidermolysis bullosa. Diagnosis involves tests and biopsies while treatment focuses on managing symptoms through medications, physical therapy, and lifestyle changes.

1. COLLAGEN & IT’S DISORDERS
SUPERVISION BY : DR. BASSAM AL-DHARASI

2. INTRODUCTION:
 Collagen is most abundant protein in mammals and accounts for 25-30% of
their protein content.
 Collagen is the main fibrous component of skin, bone, tendon and cartilage.
 Collagen comprises one- third of the total protein, accounts for three-
quarters of the dry weight of skin, and is the most prevalent component of the
extracellular matrix.

3. TYPES AND FUNCTIONS:
 28 types of collagen have been identified and described.The five most common types
are:
1. • Collagen I: skin,tendon,vascular ligature,organs,bone (main component of the organic
part of bone)
2. • Collagen II:cartilage (main component of cartilage)
3. • Collagen III:reticulate (main component of reticular fibers),commonly found alongside
type I.
4. • Collagen IV: forms basal lamina, the epithelium-secreted layer of the basement
membrane.
5. • CollagenV:cell surfaces,hair and placenta

5. BIOMEDICAL APPLICATIONS:
 Collagen is regarded as one of the most useful biomaterials.
 The excellent biocompatibility and safety due to its biological characteristics,
such as :
1. biodegradability
2. biocompatibility
3. weak antigenicity.

6. BIOMEDICAL APPLICATIONS:
 To repair tissues such as bone, tendon, ligament, skin, vascular and connective tissues.
 Tissue augmentation: For use in plastic surgery
 To enhance blood coagulation and platelet activation
 To enhance durability of allograft tissues.
 Can be used for the generation of bone substitutes, wound dressings, nerve regeneration.
 Artificial skin.
 For use as a researchtool to study diseases such as diabetes, aging and to evaluate drugs.

7. COLLAGEN DISORDERS :
 Collagenvascular diseases.
 Collagendiseases may be genetic, auto-immune or miscellaneouslike defects due to
nutritional deficiencies, drug induced defects etc.
 An inborn error of metabolism involving abnormal structureor metabolism of collagen results
in collagendisorders.
 All these affect the biosynthesis, assembly, post-translational modification, secretion, or
other processes involved in normal collagenproduction

8. COLLAGEN VASCULAR DISEASES:
 refers to a group of conditions that cause chronic inflammation in the connective tissues.
 There’s no cure for these diseases, but treatment can help manage symptoms
 Many collagen vascular diseases are autoimmune diseases, such as:
1. Ankylosing spondylitis.
2. Lupus (systemic lupus erythematosus).
3. Rheumatoid arthritis.
4. Scleroderma.
5. Sjögren syndrome.
6. Temporal arteritis.

9. COLLAGEN VASCULAR DISEASES
 genetic collagen vascular disease:
Genetic disorders occur because of mutations (changes) in specific genes. Examples of genetic
collagenvascular diseases include:
1. Ehlers-Danlos syndrome.
2. Marfan syndrome.
3. Osteogenesis imperfecta.

10. COLLAGEN DISORDERS GENERAL SYMPTOMS:
 _ Skin rash _ Fatigue_Muscle weakness and ache _ joint pain _ fever
 Other skin symptoms for specific conditions :
 Mouth ulcer (lupus)
 Dry eyes and mouth(lupus , rheumatoid arthritis )
 Malar rash ( lupus)
 Discoid rash( lupus)
 Hair loss ( lupus )

11. COLLAGEN DISORDERS GENERAL SYMPTOMS:
 Bumps of tissue at the joints ( RA , scleroderma )
 Thickening and hardening of the skin , open sores on the fingertips (
scleroderma)
 Reddish or purple oval patches on the abdomen ,back and chest that
develop a white center ( dermatomyositis)
 Long patches on the arm and legs ( morphea)
 Numb ,cool white and blue fingers and toes ( raynaud disaese )

12. COLLAGEN VASCULAR DISEASES SYMPTOMS:
 Collagenvascular disease symptoms can vary depending on what specific condition patients
have. In general, many collagenvascular diseases causesymptoms such as:
Fatigue.
fever.
Joint pain
Muscleaches.
Muscleweakness.
Skin rash

13. COLLAGEN DISORDERS DIAGNOSIS:
 Imagingtests : such as CT scansor X-rays,to look at bones or organs.
 Urinalysis: totest urinefor signs of an infection or to look for certain proteins.
 Blood test: to assesshormone levels and rule out other conditions that could causesimilarsymptoms.
 Echocardiogram: tocheck heart function and blood flow through heart.
 Biopsy: to examinea smallsampleof connective tissueunder a microscope.

14. COLLAGEN DISORDERS MANAGEMENT:
 Corticosteroids medicines to reduce inflammation and stabilize immune
system.
 Immunosuppressants medicines that safely lower immune system so it stops
attacking healthy tissues.
 Physical therapy to increase strength and range of motion and decrease
muscle or joint pain

15. COLLAGEN DISORDERS MANAGEMENT:
 steps at home to reduce symptomsor complications. Patientsmay:
1. Avoid sun damage by wearingbroad-spectrumsunscreen with at least 30 SPF every day.
2. Decrease overall sun exposure. Stay in the shade, wear protective clothing and remain indoorsduring
the sun’s peak hoursfrom 10 a.m. to 4 p.m.
3. Eat a nutritiousdiet with plenty of fruits and vegetables.
4. Exercise regularly,incorporatingboth resistancetrainingand aerobic exercise.
5. Reduce stress with healthy managementtools, such as talk therapy,journalingor meditation

16. EHLERS-DANLOS SYNDROME
 Genetic defects of collagenbiosynthesis
and metabolism
 Heterogeneous inherited disorder
affecting musculoskeletal,skin and CV
system.
 C/B : stretchy skin, abnormal tissue
fragility, loosejoints or dislocation of
joints.
 Total 10 types are found.
 Type IV- most serious- tendency to rupture
arteries or bowel , Type VI- ocular rupture

17. EHLERS-DANLOS SYNDROME

18. EHLERS-DANLOS SYNDROME
Diagnosis :
 medical history and
clinical observation
 collagen gene
mutation testing
 skin biopsy
 echocardiogram,and
lysyl hydroxylaseor
oxidase activity.

19. EHLERS-DANLOS SYNDROME
Deferential diagnosis:
 Marfan syndrome
Cutis laxa

20. EHLERS-DANLOS SYNDROME:
 Only symptomatic treatment
 Physiotherapy
 Orthotic treatment
 Surgery
 Treatment

21. SYSTEMIC LUPUS ERYTHEMATOSUS
Systemic lupus erythematosus :
 chronic autoimmunediseasethat can cause
swelling(inflammation)and pain throughoutthe
body.
 C/p : skin and sun sensitivities and rashes .
 Hair loss can alsobe a symptomofthis condition.
 Malar rash (red rash over their cheeksand the
bridge oftheir nose) ,
 discoid lupus (large red, circularrashes (plaques),
which may scar )

22.  Discoid lupus  Malar rash

23. SYSTEMIC LUPUS ERYTHEMATOSUS
Diagnosis
 Medical History andPhysical Exam
 Biopsy : to confirmthat patients havecutaneous lupus rather than
another skin condition, such as rosaceaor psoriasis, which cause
similar symptoms
 BloodTest
Treatment
 Reduce (or clear) the rashes, sores, and other skin
problems
 Relievesymptomslikeitch and pain
 Diminish flare-ups
 Preventscarring (some types of lupus can cause
scarring)
 Stop irreversiblehair loss (discoid lupus)
 Treat scarring (if has happened)
 Sun protections
 Medications ( corticosteroids,Antimalarial(
 Laser therapy

24. SCLERODERMA
Scleroderma :
 acquired disorderwhich typically results in fibrosis
of the skin and internal organs
 the hallmarkof this disease, is defined as excess
deposition and accumulation of extracellular
matrix, mainly type I collagen, in the dermis.
 Chronic hardening and tightening of the skin
and connective tissues

26. SCLERODERMA
Diagnosis
 Medical History
 Physical exam
 Blood tests ( elevation levels of auto antibodies)
Treatment
There is no treatment that can cure or stop the overproductionof
collagenthat is characteristic of scleroderma.
Symptomatic treatment :
 Suppress the immune system.
 Preventinfections: Cleaning and protectionfrom the cold
may help prevent infectionof fingertip ulcers caused by
Raynaud's disease.
 Relieve pain
 Surgicaland other procedures :Stem celltransplants might
be an optionfor people who have severe symptoms

27. SJOGREN'S SYNDROME
 The common skin manifestation of Sjögren
syndrome include:
1. Dry, rough skin (xerosis), in 50% of patients
2. Reduced sweating (hypohidrosis)
3. Vaginal dryness
4. Small vessel vasculitis(in up to 30% of
patients with SS, usually affecting the legs)
5. Urticaria vasculitis.

28. SJOGREN’S SYNDROME

29. SJOGREN’S SYNDROME
Diagnosis
 Medical history and clinical observations
 Blood and urine tests, to look for the
presence of antibodies common in
Sjögren’s syndrome.
 Biopsy
Treatment
 Ointments
 Creams
 Hydroxychloroquine
 Methotrexate

30. EPIDERMOLYSIS BULLOSA
 Dystrophicform-mutation in COL7A1 gene of
Type VII collagen .
 Skin blisters seen.

31. EPIDERMOLYSIS BULLOSA
Symptoms:
 Fragile skin that blisters easily, especially on
the palms and feet.
 Nails that are thick or unformed.
 Blisters inside the mouth and throat.
 Scalp blistering and hair loss (scarring
alopecia)
 Skin that looks thin.

32. EPIDERMOLYSIS BULLOSA

33. EPIDERMOLYSIS BULLOSA
Diagnosis
 Medical History
 Biopsy
 Blood test
Treatment
 wound care
 control of infection
 nutritional support
 and prevention and treatment of complications.
 painkillers,such as paracetamol, might be enough
for milder forms ,For more severe types , stronger
painkillerssuch as morphine

34. BETHLEM MYOPATHY
 Bethlem myopathy: is caused by dominant and
recessive mutations in the collagen VI genes
 Skin manifestationsinclude hyperkeratosispilaris
and keloid or “cigarette paper” scar formation
 slowly progressive muscle weakness and joint
stiffness

35. BETHLEM MYOPATHY
Diagnosis
 Medical History
 Clinical observation
 Biopsy
Treatment
 There is currently no cure for Bethlem
myopathy, but there are treatments to reduce
symptoms and maximize patients’ quality of
life:
1. Physiotherapy
2. Surgery
3. Occupational therapy

36. BY : GROUP (D) GIRLS
Speakers are:
‫عبداإلله‬‫خوله‬
‫مصطفى‬ ‫إيمان‬
‫قاسم‬‫عبدهللا‬ ‫هرة‬‫ز‬
Written by:
‫عادل‬ ‫نا‬‫ر‬
‫مختار‬ ‫ينب‬‫ز‬
‫عبدهللا‬ ‫ى‬‫نجو‬
‫أحمد‬‫ة‬‫ر‬‫سا‬