Scleroderma and Related Disorders — MCQs
A 28-year-old woman with limited cutaneous scleroderma for the past 10 years complains of shortness of breath for the last month. What is the most likely diagnosis?
Anticentromere antibodies are most commonly associated with
A lady, when exposed to cold, experiences extremities turning blue. Which of the following antibodies is associated with this condition?
TGF-β is involved in all of the following processes of angiogenesis, except:
Treatment of choice for Pustular psoriasis is:
Vasanti, 28-year-old, presents with complaints of tightness of fingers. There is also history of dysphagia. Which of the following is the probable diagnosis:
Raynaud's phenomenon seen in all EXCEPT:
A 25-year-old lady presents with inability to form a fist and marked stiffening of joints. Diagnosis is:
A 35 year old lady complains dysphagia, Raynaud's phenomenon, sclerodactyly. Investigations show antinuclear antibody. The likely diagnosis is ?
History of a woman with skin features like limited cutaneous systemic sclerosis (scleroderma) was given. What is the most specific marker?
Scleroderma and Related Disorders Indian Medical PG Practice Questions and MCQs
Question 1: A 28-year-old woman with limited cutaneous scleroderma for the past 10 years complains of shortness of breath for the last month. What is the most likely diagnosis?
- A. Interstitial lung disease (Correct Answer)
- B. Pulmonary artery hypertension
- C. Bronchiectasis
- D. Congestive heart failure
Explanation: ***Interstitial lung disease*** - **Interstitial lung disease (ILD)** is a common and serious complication of **limited cutaneous scleroderma**, often presenting with **progressive shortness of breath** [1]. - Pathologically, it involves **fibrosis** and inflammation of the lung parenchyma, leading to impaired gas exchange [1]. *Pulmonary artery hypertension* - While **pulmonary artery hypertension (PAH)** can occur in scleroderma, it typically presents with more prominent symptoms like **fatigue**, **chest pain**, and **syncope** in later stages. - Though shortness of breath is a symptom, **ILD** is a more direct and common cause in this context, and PAH may follow ILD or occur independently. *Bronchiectasis* - **Bronchiectasis** is characterized by **permanent dilation of the bronchi** and is usually associated with **chronic cough with sputum production**, recurrent infections, and hemoptysis, which are not mentioned here. - It is not a primary lung manifestation of scleroderma, occurring more commonly in conditions like **cystic fibrosis** or severe infections. *Congestive heart failure* - **Congestive heart failure** would likely present with signs of fluid overload such as **peripheral edema**, **jugular venous distention**, and **rales** on lung auscultation, none of which are described. - While scleroderma can affect the heart, **ILD** is a more common and direct pulmonary complication causing shortness of breath.
Question 2: Anticentromere antibodies are most commonly associated with
- A. Diffuse cutaneous systemic sclerosis
- B. Polymyositis
- C. Mixed connective tissue disease
- D. CREST syndrome (Correct Answer)
Explanation: ***CREST syndrome*** - **Anticentromere antibodies** are highly specific for **CREST syndrome**, a limited form of systemic sclerosis. [1] - CREST syndrome is an acronym for its characteristic features: **Calcinosis**, **Raynaud's phenomenon**, **Esophageal dysmotility**, **Sclerodactyly**, and **Telangiectasias**. [1] *Diffuse cutaneous systemic sclerosis* - This more severe form of systemic sclerosis is typically associated with **anti-Scl-70 (anti-topoisomerase I)** antibodies. - It involves widespread skin thickening and early, significant internal organ involvement. [1] *Polymyositis* - Polymyositis is an inflammatory myopathy primarily associated with antibodies like **anti-Jo-1** (aminoacyl-tRNA synthetase). [1] - It’s characterized by **proximal muscle weakness** and elevated muscle enzymes. [1] *Mixed connective tissue disease* - This overlap syndrome is defined by the presence of **high titers of anti-U1-RNP** antibodies. [1] - It features signs and symptoms overlapping with systemic lupus erythematosus, systemic sclerosis, and polymyositis. [1]
Question 3: A lady, when exposed to cold, experiences extremities turning blue. Which of the following antibodies is associated with this condition?
- A. Anti-RO
- B. Anti-SS-B
- C. Anti-SS-A
- D. Anti-SCL-70 (Correct Answer)
Explanation: Anti-SCL-70 - The symptom of extremities turning blue, especially upon cold exposure, describes **Raynaud's phenomenon**, a common feature of **systemic sclerosis (scleroderma)** [1]. - **Anti-SCL-70 antibodies** (topoisomerase 1 antibodies) are highly specific for **diffuse cutaneous systemic sclerosis**, a severe form of the disease often associated with Raynaud's. *Anti-RO* - **Anti-RO (SSA) antibodies** are primarily associated with **Sjögren's syndrome** and **subacute cutaneous lupus erythematosus**, conditions not typically characterized by prominent Raynaud's as the presenting symptom [2]. - While Sjögren's syndrome can have Raynaud's, it's not the defining feature and other symptoms like **dry eyes** and **dry mouth** would likely be present. *Anti-SS-B* - **Anti-SS-B (La) antibodies** are also associated with **Sjögren's syndrome**, often appearing alongside anti-RO antibodies [2]. - Their presence does not directly point to diffuse systemic sclerosis or severe Raynaud's as the primary condition. *Anti-SS-A* - **Anti-SS-A (RO) antibodies** are primarily linked to **Sjögren's syndrome** and **neonatal lupus**, and can also be seen in **systemic lupus erythematosus** [2]. - While Raynaud's can occur in lupus, the presence of isolated cold-induced blue extremities points more strongly towards systemic sclerosis given the provided options.
Question 4: TGF-β is involved in all of the following processes of angiogenesis, except:
- A. Increases the synthesis of collagen
- B. Formation of the vascular lumen (Correct Answer)
- C. Decreases the degradation of ECM
- D. Stimulates fibroblast migration and proliferation
Explanation: ***Formation of the vascular lumen*** - TGF-β is **not directly involved** in forming the vascular lumen, which is primarily the result of endothelial cell behavior. - Its primary role in angiogenesis involves promoting other processes rather than lumen formation itself [1]. *Increases the synthesis of collagen* - TGF-β plays a significant role in **enhancing collagen synthesis**, contributing to tissue remodeling during angiogenesis [1]. - This process is critical for stabilizing blood vessels and is consistent with its role in **fibrosis**. *Stimulates fibroblast migration and proliferation* - TGF-β is known to **stimulate fibroblast migration** and proliferation, which aids in the formation of granulation tissue and new blood vessels [2]. - It is essential for wound healing and tissue repair processes involving angiogenesis. *Decreases the degradation of ECM* - TGF-β helps to **reduce ECM degradation**, promoting stability of newly formed blood vessels during angiogenesis [1]. - It regulates proteins that inhibit matrix metalloproteinases, thus retaining ECM integrity. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Inflammation and Repair, pp. 115-116. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Inflammation and Repair, pp. 117-119.
Question 5: Treatment of choice for Pustular psoriasis is:
- A. Methotrexate (Correct Answer)
- B. Psoralen - UV therapy
- C. Systemic steroid
- D. Estrogen
Explanation: ***Methotrexate*** - **Methotrexate** is a systemic immunosuppressant often considered the first-line treatment for severe forms of **pustular psoriasis** due to its efficacy in reducing inflammation and hyperproliferation of skin cells. - It works by inhibiting **dihydrofolate reductase**, thereby interfering with DNA synthesis and cell division, which is crucial in rapidly dividing cells like those found in psoriasis. *Psoralen - UV therapy* - **Psoralen and ultraviolet A (PUVA)** therapy can be used for chronic plaque psoriasis, but it is generally **contraindicated or used with extreme caution** in pustular psoriasis due to the risk of exacerbating the disease or causing irritation. - **UV light therapy** can sometimes trigger or worsen pustular flares, especially in acute generalized pustular psoriasis. *Systemic steroid* - While systemic steroids can provide temporary relief by addressing inflammation, their use in pustular psoriasis is generally **not recommended for long-term management** due to the high risk of severe rebound flares upon withdrawal. - Withdrawal of **systemic corticosteroids** can precipitate or worsen generalized pustular psoriasis, making them a less desirable long-term treatment option. *Estrogen* - **Estrogen** has no direct role in the treatment of psoriasis. Psoriasis is an inflammatory skin condition, and its pathophysiology is not directly influenced by estrogen levels. - Hormonal therapies are not indicated for the management of psoriasis, including its pustular forms.
Question 6: Vasanti, 28-year-old, presents with complaints of tightness of fingers. There is also history of dysphagia. Which of the following is the probable diagnosis:
- A. Rheumatoid arthritis
- B. Dermatomyositis
- C. Polyarteritis nodosa
- D. Scleroderma (Correct Answer)
Explanation: ***Scleroderma*** - **Tightening of fingers** (sclerodactyly) and **dysphagia** are hallmark symptoms of scleroderma, especially the systemic form [1]. - Dysphagia in scleroderma is often due to **esophageal dysmotility** caused by fibrosis. *Rheumatoid arthritis* - Primarily affects the **synovial joints**, leading to pain, swelling, and morning stiffness, but not typically finger tightness or dysphagia as a primary complaint. - While it can affect other organs, **cutaneous fibrosis** and **esophageal dysmotility** are not characteristic features. *Dermatomyositis* - Characterized by **muscle weakness** (especially proximal) and distinctive **skin rashes** (e.g., heliotrope rash, Gottron's papules). - While dysphagia can occur due to muscle involvement, **tightness of fingers** due to skin thickening is not a primary feature. *Polyarteritis nodosa* - A **necrotizing vasculitis** affecting medium-sized arteries, leading to symptoms related to organ ischemia (e.g., kidney, GI, neurological). - It does not typically cause **skin tightening of the fingers** or **dysphagia** as described.
Question 7: Raynaud's phenomenon seen in all EXCEPT:
- A. Scleroderma
- B. SLE
- C. Juvenile rheumatoid arthritis (Correct Answer)
- D. Dermatomyositis
Explanation: ***Juvenile rheumatoid arthritis*** - While other **rheumatic conditions** are often associated with Raynaud's phenomenon, **juvenile idiopathic arthritis (JIA)**, including the category once known as **juvenile rheumatoid arthritis**, is generally not a common cause [2]. - Its pathophysiology primarily involves **joint inflammation** rather than **vasospastic disorders**. *Scleroderma* - Raynaud's phenomenon is a **hallmark symptom** in nearly all patients with **scleroderma**, often preceding other symptoms by years [3]. - It results from **fibrosis and structural changes** in small blood vessels, leading to exaggerated vasoconstriction [3]. *SLE* - **Systemic lupus erythematosus (SLE)** is frequently associated with Raynaud's phenomenon, occurring in about 20-30% of patients [1]. - It is part of the broader **vasculopathy** seen in autoimmune diseases. *Dermatomyositis* - Raynaud's phenomenon can occur in patients with **dermatomyositis**, though less frequently than in scleroderma (around 15-20%). - Its presence often indicates a more complex **autoimmune overlap syndrome**.
Question 8: A 25-year-old lady presents with inability to form a fist and marked stiffening of joints. Diagnosis is:
- A. Coup de sabre
- B. Scleroderma (Correct Answer)
- C. Morphea
- D. Rheumatoid arthritis
Explanation: ***Scleroderma*** - The combination of **inability to form a fist** (due to hardening and tightening of the skin on the hands) and marked **stiffening of joints** (often affecting multiple joints) is characteristic of systemic sclerosis, commonly known as scleroderma. - Scleroderma causes **fibrosis** of the skin and internal organs, leading to skin thickening, **Raynaud's phenomenon**, and potential involvement of the lungs, heart, kidneys, and gastrointestinal tract. *Coup de sabre* - This is a localized form of morphea (linear scleroderma) occurring on the face or scalp. It presents as a **linear atrophy** and pigmentation, resembling a saber-cut. - While it involves skin hardening, it typically does not cause generalized joint stiffening or diffuse inability to form a fist that suggests widespread systemic involvement. *Morphea* - **Morphea** is a localized form of scleroderma that primarily affects the skin, causing well-demarcated patches of hardened, discolored skin. - Unlike systemic scleroderma, morphea **rarely involves internal organs** or causes generalized joint stiffness to the extent described in the clinical vignette. *Rheumatoid arthritis* - Rheumatoid arthritis is a chronic inflammatory joint disease primarily affecting the **synovial membranes** of multiple joints, typically presenting with **morning stiffness** lasting over 30 minutes, swelling, and tenderness. - While it can cause joint stiffness and hand deformities, the clinical picture would usually include significant **joint inflammation** (redness, swelling) and would not typically manifest as the diffuse skin hardening that leads to an "inability to form a fist" due to skin tightness, as seen in scleroderma.
Question 9: A 35 year old lady complains dysphagia, Raynaud's phenomenon, sclerodactyly. Investigations show antinuclear antibody. The likely diagnosis is ?
- A. Rheumatoid arthritis
- B. Systemic lupus erythematosus
- C. Systemic sclerosis (Correct Answer)
- D. Mixed connective tissue disorder
Explanation: ***Systemic sclerosis*** - The classic triad of **Raynaud's phenomenon**, **sclerodactyly**, and **維持dysphagia** (due to esophageal dysmotility) is highly characteristic of systemic sclerosis [1]. - The presence of **antinuclear antibodies (ANA)** further supports this diagnosis, as ANA is positive in the majority of systemic sclerosis patients. *Rheumatoid arthritis* - Characterized by **symmetric polyarthritis**, often affecting small joints of the hands and feet, which is not described here. - While ANA can be positive, **rheumatoid factor** and **anti-CCP antibodies** are more specific markers, and the clinical features presented are not typical for RA. *Systemic lupus erythematosus* - This condition presents with a wide range of symptoms, including **arthritis**, malar rash, serositis, and renal involvement, which are not mentioned [2]. - While ANA is a hallmark, the specific combination of **sclerodactyly** and **significant dysphagia due to esophageal dysmotility** is less characteristic of SLE compared to systemic sclerosis [2]. *Mixed connective tissue disorder* - This syndrome features a combination of features from **SLE**, **systemic sclerosis**, and **polymyositis**, with high titers of **anti-U1-RNP antibodies** [1]. - While it can include Raynaud's phenomenon and sclerodactyly, the strong emphasis on prominent dysphagia along with isolated sclerodactyly points more specifically towards systemic sclerosis.
Question 10: History of a woman with skin features like limited cutaneous systemic sclerosis (scleroderma) was given. What is the most specific marker?
- A. Anti centromere (Correct Answer)
- B. Anti U1 Rnp
- C. Anti Jo
- D. Anti La
Explanation: ***Anti centromere*** - **Anti-centromere antibodies** are highly specific for **limited cutaneous systemic sclerosis** (lcSSc), also known as CREST syndrome. - Their presence correlates with a higher risk of **pulmonary hypertension** and less severe organ involvement compared to diffuse SSc [1]. *Anti U1 Rnp* - **Anti-U1 RNP antibodies** are primarily associated with **mixed connective tissue disease** (MCTD) [2]. - While MCTD can have features overlapping with scleroderma, anti-U1 RNP is not the most specific marker for a pure scleroderma presentation. *Anti Jo* - **Anti-Jo-1 antibodies** are characteristic of **polymyositis** and **dermatomyositis**, diseases involving muscle inflammation [2]. - They are primarily associated with the **anti-synthetase syndrome**, which includes myositis, interstitial lung disease, and Raynaud's phenomenon, not directly limited cutaneous systemic sclerosis. *Anti La* - **Anti-La (SS-B) antibodies** are commonly found in patients with **Sjögren's syndrome**, an autoimmune disorder affecting moisture-producing glands [2]. - They can also be present in systemic lupus erythematosus, but are not specific for scleroderma.
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