part 5 spcon module 3

WHAT CONDITION IS THIS?

• Imperfect bone formation

• Disorder of collagen synthesis affecting bones and connective tissue

• Inherited disorder causing generalized osteopenia ( decrease in bone mass )

• Bone is brittle

• Upon birth: normal presentation but worsens in childhood ( fracture )

• Most severe: death in utero

• Associated with: blue sclerae

  • hearing loss

  • dental abnormality (dentinogenesis imperfecta)

  • family history

• Mutations in 1 of the 2 genes that encodes Type I procollagen

OSTEOGENESIS IMPERFECTA

What type of Osteogenesis Imperfecta is this?

Bone fragility: Mild

Blue sclerae: Present

Abnormal definition: Absent in Ia, Present in Ib

Hearing loss: Present in most

I

What type of Osteogenesis Imperfecta is this?

Bone fragility: Extreme

Blue sclerae: Present

Abnormal definition: Present in some

Hearing loss:Unknown

II

What type of Osteogenesis Imperfecta is this?

Bone fragility: Severe

Blue sclerae: Bluish at birth

Abnormal definition: Present in some

Hearing loss: High incidence

III

What type of Osteogenesis Imperfecta is this?

Bone fragility: Variable

Blue sclerae: Absent

Abnormal definition: Absent in IVa, Present in IVb

Hearing loss: High incidence

IV

In Osteogenesis Imperfecta, this/these type/s is the most common form of OI

Type I –

In Osteogenesis Imperfecta, this/these type/s is/are the milder course of OI

Type I & IV

In Osteogenesis Imperfecta, this/these type/s has/have the mortality due to cardiorespiratory failure from kyphoscoliotic deformity

Type III

In Osteogenesis Imperfecta,

● Sclerae can be normal, slightly blue, bluish

● Thinness of the collagen layer of sclerae allowing the choroid layer to be visible

OCULAR CHANGES

In Osteogenesis Imperfecta,

● Teeth may be normal, moderately or grossly discolored or abnormal

● Enamel appears normal

● Teeth can have amber, yellowish brown or bluish gray ( improper deposition or dentin deficiency)

● Deciduous teeth smaller than normal permanent bell shaped restricted at base

DENTINOGENESIS

WHAT CONDITION IS THIS

● hyperelasticity of the skin

● hypermobility of joint

● Incidence

○ Rare

○ Difficult to establish (patients with mild skin and joint symptom rarely seek consult)

EHLER-DANLOS SYNDROME

What type of Ehler Danlos Syndrome is this?

Soft, velvety, hyperextensible skin; easy bruising “cigarette paper scars”, hypermobile joints varicose veins

I gravis

What type of Ehler Danlos Syndrome is this?

Similar to Type I but less severe

II mitis

What type of Ehler Danlos Syndrome is this?

Soft skin, no scarring, marked hypermobility

III familial hypermobility

What type of Ehler Danlos Syndrome is this?

Thin translucent skin with visible veins, increased bruisability, skin and joints have normal extensibility,

IV acrogeric,ecchymot ic,vascular

What type of Ehler Danlos Syndrome is this?

Similar to Type II

V X-linked

What type of Ehler Danlos Syndrome is this?

Soft, velvety, hyperextensible skin, hypermobile joints, scoliosis, ocular fragility

VI ocular-scoliotic

What type of Ehler Danlos Syndrome is this?

Marked joint hypermobility, soft skin with normal scarring

VII arthrocalasis multiplex congenita

What type of Ehler Danlos Syndrome is this?

Generalized periodontitis, skin similar to EDS Type II

VIII periodontal

What type of Ehler Danlos Syndrome is this?

Now categorized as a disorder of copper transport

IX cutis laxa occipital horn syndrome

What type of Ehler Danlos Syndrome is this?

Similar to EDS Type II

X

What type of Ehler Danlos Syndrome is this?

Now categorized with familial articular hypermobility syndromes

XI familial joint instability

What type of Ehler Danlos Syndrome is:

○ Classic EDS

○ Severe form

● Type I

What type of Ehler Danlos Syndrome is:

○ Joint hypermobility more prominent than skin changes

● Type III

What type of Ehler Danlos Syndrome is:

○ Skin changes more prominent than joint hypermobility

○ Predispose to sudden death due to the rupture of the blood vessel

● Type IV

WHAT CONDITION IS THIS?

• Triad

  • Long thin extremities

  • Reduced vision

  • Aortic aneurysm

• Caused by a mutation in a single allele of fibrillar gene

• Px is usually tall with long limbs

• Ratio of US to LS is 2SD below mean for age

• Hands, fingers are long and slender

• Chest deformity (pectus carinatum and excavatum)

• Cardiac pathology – major source of morbidity and mortality ( MVP )

MARFAN’S SYNDROME

What is the triad of Marfan’s Syndrome?

● Triad

○ Long thin extremities

○ Reduced vision

○ Aortic aneurysm

In Marfans Syndrome, this medication is used to delay or prevent aortic dilatation

Propranolol

WHAT CONDITION IS THIS?

• Inherited skeletal disorder that causes dwarfism and abnormal body proportion

• Develops degenerative disorder

• Accompanied by other abnormality like ocular changes

• Skeletal dysplasias

• Incidence: 1 in 10,000

• Molecular defect

  • Mutation in CIL2A1 gene for Type II collagen (most abundant protein in the cartilage)

  • Mutation in the genes for the cartilage matrix, growth factors

CHRONDRODYSPLASIA

In Chondrodysplasia, fill in the blanks

• Inherited skeletal disorder that causes dwarfism and abnormal body proportion

• Develops degenerative disorder

• Accompanied by other abnormality like ocular changes

• Skeletal dysplasias

• Incidence: 1 in 10,000

• Molecular defect

  • Mutation in _____ gene for _____ collagen (most abundant protein in the cartilage)

  • Mutation in the genes for the cartilage matrix, growth factors

In Chondrodysplasia, fill in the blanks

• Inherited skeletal disorder that causes dwarfism and abnormal body proportion

• Develops degenerative disorder

• Accompanied by other abnormality like ocular changes

• Skeletal dysplasias

• Incidence: 1 in 10,000

• Molecular defect

  • Mutation in CIL2A1 gene for Type II collagen (most abundant protein in the cartilage)

  • Mutation in the genes for the cartilage matrix, growth factors

In Chondrodysplasia, this condition is:

○ Most common cause of short limbed stature

○ Macrocephaly

○ Dysplasia of metaphysis of long bones

○ Mutation in the receptor of fibroblast growth factor

● ACHONDROPLASIA

WHAT CONDITION IS THIS?

• Group of disorders in which the skin and related epithelial tissues break and blister as a result of minor trauma

• INCIDENCE: 1 in 50,000

• Pathogenesis

  • Molecular defect in the due to mutations in type VII collagen

EPIDERMOLYSIS BULLOSA

In Epidermolysis Bullosa, fill in the blanks

• Group of disorders in which the skin and related epithelial tissues break and blister as a result of minor trauma

• INCIDENCE: 1 in 50,000

• Pathogenesis

  • Molecular defect in the due to mutations in _____ collagen

In Epidermolysis Bullosa, fill in the blanks

• Group of disorders in which the skin and related epithelial tissues break and blister as a result of minor trauma

• INCIDENCE: 1 in 50,000

• Pathogenesis

  • Molecular defect in the due to mutations in type VII collagen

What are the classifications in Epidermolysis Bullosa

EB complex

EB junctional

EB dystrophica

What classification of Epidermolysis Bullosa is this?

○ Blistering in the epidermis

● EB simplex

What classification of Epidermolysis Bullosa is this?

○ Blisters in the dermal-epidermal junction

● EB junctional

What classification of Epidermolysis Bullosa is this?

○ Blisters in the dermis

○ EB dystrophica