Other sclerodermoid syndromes

Question 1

Nephrogenic Systemic Fibrosis is caused by?

Answer 1

strongly linked to exposure to **gadolinium-based contrast agents (GBCAs) **

used in MRI scans in individuals with reduced kidney function

Question 2

What is Nephrogenic Systemic Fibrosis?

Answer 2

a rare, progressive fibrosing disorder

primarily affecting individuals with impaired kidney function after exposure to gadolinium-based contrast agents during MRI scans,

leading to skin and tissue thickening.

Question 3

What are the clinical features of Nephrogenic Systemic Fibrosis?

Answer 3

Symmetric thick indurated plaques on the trunk and extremities

Plaques are erythematous to hyperpigmented

Can cause joint contractures

Can also have organ involvment: heart, lungh, skeletal muscle

Question 4

What is toxic oil syndrome?

Answer 4

A multisystem disease

Due to the comsumption of rapeseed oil that was denatured with aniline and then refined and sole as olive oil

(A ddx for scleroderma)

Question 5

What are the clinical features of Toxic Oil Syndrome?

Answer 5

Initial:
- morbilliform eruption
- flu-like symptoms (fever, headache)
- Cough
- Peripheral eosinophilia in about 50% of cases.
- pulmonary infiltrates

Later:
- Scleroderma-like changes, sicca syndrome,
- polyneuropathy,
- joint contractures,
- weight loss, and functional limitations.
- neurological changes

Question 6

What is eosinophilia myalgia syndrome?

Answer 6

a rare, multisystem disorder

characterized by muscle pain and elevated eosinophil levels in the blood, and can affect muscles, skin, and lungs.

often linked to contaminated L-tryptophan ingestion

Question 7

Clinical features of Eosinophilia Myalgia syndrome?

Answer 7

• Acute Phase:
  ○ Severe myalgias, fever, dyspnea, edema, macular exanthem.
  ○ Peripheral eosinophilia observed.
  • Chronic Phase (in some patients):
    ○ Deep sclerodermoid induration of extremities (with acral sparing).
    ○ Progressive peripheral neuropathy and myopathy.

Question 8

What chemicals can induce sclerodermoid syndromes?

Answer 8

Vinyl chloride,
organic solvents (e.g., trichloroethylene, perchloroethylene),
pesticides,
epoxy resins

Question 9

What are the clinical features of sclerodermoid syndromes caused by chemicals?

Answer 9

○ Slowly progressive sclerosis (in contrast to acute syndromes like toxic oil and eosinophilia–myalgia).

	○ Often begins with acrosclerosis and Raynaud phenomenon.
	
	○ Acral osteolysis, hepatic toxicity, and pulmonary involvement may occur.
	
	○ Symptoms include fatigue, weight loss, arthralgias, and myalgias.
	
* Diagnosis: No autoantibodies present.

* Reversal: Disease process typically reverses upon removal of exposure.

Question 10

What drugs can induce sclerodermoid syndromes?

Answer 10

○ Chemotherapeutic agents:
§ Bleomycin and taxanes (e.g., paclitaxel).
§ Other chemotherapy drugs: Cisplatin, pemetrexed, carboplatin, topotecan, gemcitabine (especially affecting the lower extremities).

	○ Other Drugs: 
		§ Ergot alkaloids.
		§ L-5-hydroxytryptophan (with or without carbidopa).
		§ Appetite suppressants.
		§ Cocaine.

Question 11

What is Erasmus Syndrome?

Answer 11

The association of silica exposure with the subsequent development of SSc is known as Erasmus syndrome

20-fold higher incidence of SSc in individuals with silica exposure, such as miners and foundry workers.

Question 12

Silicosis is clinically, serologically, and immunologically indistinguishable from idiopathic SSc.

Answer 12

True

Question 13

What is silicosis?

Answer 13

a fibrotic lung disease caused by inhaling and retaining crystalline silica dust, a common occupational hazard in industries like mining, quarrying, and construction

Question 14

What is stiff skin syndrome?

Answer 14

A genetic conditions

Caused by a mutation in the Fibrillin -1 gene

Characterised by “Rock hard” induration and thickening of the skin and subcutaneous tissues.

Question 15

What internal involvement is seen with stiff skin syndrome?

Answer 15

Typically no involvement

Question 16

When does stiff syndrome present?

Answer 16

Can present at birth or otherwise during early childhood

Question 17

What mutation is present in the segmental form of stiff skin syndrome?

Answer 17

Interleukin 17 - C

Question 18

What is the inheritance of stiff skin syndrome?

Answer 18

AD

Question 18

What are the clinical features of stiff skin syndrome?

Answer 18

• Skin and Subcutaneous Tissue Changes:
  ○ “Rock hard” induration and thickening of the skin and subcutaneous tissues.
  ○ Most pronounced on the buttocks and thighs, with sparing of inguinal folds.
  ○ Hands and feet are not involved.
  ○ Mild hypertrichosis in affected areas.
  • Joint Mobility and Posture:
    ○ Restricted joint mobility, leading to a characteristic posture with hip and knee flexion and prominent lumbar lordosis while standing.
    ○ Short stature may be present.

Question 19

What are thecauses for Raynauds?

Answer 19

COLD HANDS

Cryoglobulins / cryofibrinogens
Occlusion - Embolic, thoracic outlet obstruction, crutch pressure
Lupus and other AICTD
Drugs, diabetes

Haematological abnormalities (hyperviscosity)
Atherosclerosis and artieral conditions
Neurological (carpel tunnel)
D - dont know (idiopathic)

Question 20

What are common triggers for Raynauds?

Answer 20

Raynaud’s Triggers - SOB CVC

Smoking
OCP
Beta blockers
Cold
Vibration
Caffeine

Question 21

DDX for sclerodermoid conditions?

Answer 21

Morphea
Extragenital Lichen Sclerosus
Chronic GVHD
Eosinophilic Fasciitis

Mucinosis
Sclerodema
Amyloidosis
Lipodermatosclerosus

Diabetic Cheriorathropathy

Chemical exposures
- Silicosis
- Toxic oil sydrome (rapeseed oil)
- Eosinophilia -myalgia syndorme (L -tryptophan)

Drug exposure
- PD1 inhibitors
- nephrogenic fibrosising syndrome (galadium dye and renal disease)

Genetic syndromes:
- stiff skin syndrome
- Werner syndromes