Connective Tissue Disorders of the Skin — MCQs
A female patient of 26 years, presents with oral ulcers, photosensitivity and skin malar rash in face sparing the nasolabial folds of both side.
Which of the following is NOT a connective tissue disorder?
Gottron papules are seen in:
An adult tall male presents with a long arm span, pectus excavatum, and cardiac abnormalities. What is the most likely defective protein?
Which of the following statements about systemic sclerosis is correct?
Which is NOT a feature of polymyositis?
A patient with typical cutaneous lesions, slightly elevated red or purple macules often covered by gray or yellow adherent scales. Forceful removal of the scale reveals numerous ‘carpet tack’ extensions. The lesion is:
Which protein is primarily affected by mutations in Marfan's syndrome?
In which skin disorder is the appearance of basal cells resembling a row of tombstones observed?
Which of the following conditions is NOT associated with retinitis pigmentosa?
Connective Tissue Disorders of the Skin Indian Medical PG Practice Questions and MCQs
Question 1: A female patient of 26 years, presents with oral ulcers, photosensitivity and skin malar rash in face sparing the nasolabial folds of both side.
- A. Sturge weber syndrome
- B. Dermatitis
- C. Psoriasis
- D. SLE (Correct Answer)
Explanation: ***SLE*** - The combination of **oral ulcers**, **photosensitivity**, and a **malar rash** that spares the nasolabial folds is highly characteristic of **Systemic Lupus Erythematosus (SLE)** [1]. - SLE is an autoimmune disease with diverse clinical manifestations involving multiple organ systems. *Sturge weber syndrome* - This is a neurocutaneous disorder characterized by a **port-wine stain** (nevus flammeus) typically on the face, neurological abnormalities like seizures, and ocular involvement. - It does not present with oral ulcers or photosensitivity as primary features. *Dermatitis* - **Dermatitis** is a general term for skin inflammation, often presenting with redness, itching, and sometimes blisters. - It does not typically involve the specific constellation of oral ulcers, photosensitivity, and a malar rash that spares nasolabial folds. *Psoriasis* - **Psoriasis** is a chronic autoimmune disease primarily affecting the skin, characterized by red, scaly patches (plaques) [2]. - While it can cause nail changes and sometimes joint pain, it does not present with photosensitivity, oral ulcers, or the characteristic malar rash described.
Question 2: Which of the following is NOT a connective tissue disorder?
- A. Osteoarthritis
- B. Fibromyalgia
- C. Sjogren's syndrome (Correct Answer)
- D. SLE
Explanation: ***Sjogren's syndrome*** - Sjogren's syndrome is an **autoimmune disease** characterized by **dry eyes** and **dry mouth**, resulting from immune-mediated destruction of exocrine glands [1]. - While it can involve multiple organ systems and is classified as a **systemic autoimmune disorder**, it is primarily an **exocrinopathy**, and not exclusively a disorder of connective tissue structure or function. *Osteoarthritis* - Osteoarthritis is a **degenerative joint disease** primarily affecting the **articular cartilage** and underlying bone. - While it involves destruction of cartilage, which is a connective tissue, it is considered a **degenerative rather than a systemic inflammatory or autoimmune connective tissue disorder**. *Fibromyalgia* - Fibromyalgia is a chronic pain condition characterized by **widespread musculoskeletal pain**, fatigue, and sleep disturbances, without evidence of inflammation or tissue damage [3]. - It is considered a **central sensitization syndrome** rather than a disorder of the connective tissue itself [3]. *SLE* - Systemic lupus erythematosus (SLE) is a **prototypical systemic autoimmune connective tissue disorder** affecting multiple organ systems [2]. - It is characterized by **autoantibody production** and immune complex deposition, leading to inflammation and damage in joints, skin, kidneys, and other tissues [2].
Question 3: Gottron papules are seen in:
- A. Behcet's syndrome
- B. Sarcoidosis
- C. Dermatomyositis (Correct Answer)
- D. Scleroderma
Explanation: ***Dermatomyositis*** - **Gottron papules** are pathognomonic for **dermatomyositis**, presenting as violaceous, flat-topped papules or plaques over the extensor surfaces of the **metacarpophalangeal (MCP)** and **interphalangeal (IP)** joints. - They are one of the characteristic cutaneous manifestations, often accompanied by **heliotrope rash** and **proximal muscle weakness**. *Behcet's syndrome* - Characterized by **recurrent oral and genital aphthous ulcers**, **ocular inflammation**, and skin lesions like **erythema nodosum**, but not Gottron papules. - It is a **vasculitis** affecting various organs, primarily due to immune dysregulation. *Sarcoidosis* - A **multisystem granulomatous disorder** that can affect the skin with lesions such as **lupus pernio** or **erythema nodosum**, but not Gottron papules. - It is often associated with pulmonary involvement and can cause **hypercalcemia**. *Scleroderma* - Also known as **systemic sclerosis**, is characterized by **skin thickening** and **fibrosis** due to excessive collagen deposition. - Common skin manifestations include **Raynaud phenomenon**, **sclerodactyly**, and **telangiectasias**, distinct from Gottron papules.
Question 4: An adult tall male presents with a long arm span, pectus excavatum, and cardiac abnormalities. What is the most likely defective protein?
- A. Fibrillin (Correct Answer)
- B. Elastin
- C. Collagen
- D. Myosin
- E. Laminin
Explanation: ***Fibrillin*** - The constellation of **tall stature**, **long arm span**, **pectus excavatum**, and **cardiac abnormalities** (e.g., aortic dissection or mitral valve prolapse) is classic for **Marfan syndrome**. - Marfan syndrome is caused by a defect in the *FBN1* gene, which codes for **fibrillin-1**, a glycoprotein essential for the formation of elastic fibers in connective tissue. *Elastin* - Defects in **elastin** are associated with conditions like **supravalvular aortic stenosis** (due to **Williams syndrome**) or cutis laxa, which have different phenotypic presentations. - While both elastin and fibrillin are components of elastic fibers, the specific features of Marfan syndrome point to fibrillin as the primary defect. *Collagen* - Defects in **collagen** (especially type I, III, or V) are associated with conditions such as **osteogenesis imperfecta** (brittle bones) or **Ehlers-Danlos syndrome** (hypermobility, skin hyperextensibility). - These conditions typically present with different clinical manifestations, lacking the specific combination of features seen in this patient. *Myosin* - **Myosin** is a fibrous protein primarily involved in **muscle contraction** and is not directly implicated in widespread connective tissue disorders affecting skeletal and cardiovascular systems in this manner. - Defects in myosin are more commonly associated with various forms of **cardiomyopathy** or skeletal muscle myopathies, not Marfan-like features. *Laminin* - **Laminin** is a major component of the **basement membrane** and plays a role in cell adhesion, migration, and tissue architecture. - Laminin defects are associated with certain forms of **muscular dystrophy** (e.g., congenital muscular dystrophy) and **epidermolysis bullosa**, not the specific skeletal and cardiovascular features of Marfan syndrome.
Question 5: Which of the following statements about systemic sclerosis is correct?
- A. Has a genetic predisposition component (Correct Answer)
- B. Always leads to pulmonary arterial hypertension
- C. Is always associated with anticentromere antibodies
- D. Is characterized by calcinosis cutis in all patients
Explanation: ***Has a genetic predisposition component*** - While not a simple Mendelian disorder, **systemic sclerosis** is known to have a **genetic predisposition**, with certain **HLA alleles** and other genes increasing susceptibility. - This genetic component interacts with environmental factors to trigger the disease in susceptible individuals. *Always leads to pulmonary arterial hypertension* - While **pulmonary arterial hypertension (PAH)** is a serious complication of systemic sclerosis, it does not occur in **all patients**; its prevalence varies depending on the disease subtype. - A significant percentage of patients, particularly those with the **limited cutaneous form**, can develop PAH, but it is not a 100% certainty. *Is always associated with anticentromere antibodies* - **Anticentromere antibodies (ACA)** are commonly found in patients with the **limited cutaneous form of systemic sclerosis** (CREST syndrome) but are not present in all patients. - Patients with the **diffuse cutaneous form** often test positive for **anti-Scl-70 (topoisomerase I) antibodies** or other autoantibodies. *Is characterized by calcinosis cutis in all patients* - **Calcinosis cutis**, the deposition of calcium salts in the skin, is a component of CREST syndrome (part of limited systemic sclerosis) but is **not present in all patients** with systemic sclerosis [1]. - Its presence varies, and it is more characteristic of the limited form rather than the diffuse form of the disease [1].
Question 6: Which is NOT a feature of polymyositis?
- A. Proximal muscle weakness
- B. Elevated serum creatine kinase (CK) levels
- C. Ocular muscle involvement (Correct Answer)
- D. Endomysial inflammation on muscle biopsy
Explanation: ***Ocular muscle involvement*** - **Polymyositis** primarily affects **proximal skeletal muscles**, sparing the **ocular** and facial muscles. - Involvement of **ocular muscles** is more characteristic of other neuromuscular disorders, such as **myasthenia gravis**. *Proximal muscle weakness* - This is a hallmark symptom of **polymyositis**, manifesting as difficulty with activities like rising from a chair or lifting objects [1]. - The weakness is typically **symmetric** and progressive, affecting muscles of the **shoulders, hips, and neck** [1]. *Elevated serum creatine kinase (CK) levels* - Elevated **CK levels** are a key laboratory finding in polymyositis, indicating **muscle damage** and inflammation. - The degree of **CK elevation** often correlates with disease activity and muscle breakdown. *Endomysial inflammation on muscle biopsy* - A **muscle biopsy** is crucial for diagnosing polymyositis, revealing characteristic **inflammatory infiltrates** consisting mainly of **CD8+ T cells** surrounding and invading non-necrotic muscle fibers. - This **endomysial inflammation** differentiates polymyositis from other myopathies.
Question 7: A patient with typical cutaneous lesions, slightly elevated red or purple macules often covered by gray or yellow adherent scales. Forceful removal of the scale reveals numerous ‘carpet tack’ extensions. The lesion is:
- A. Scleroderma
- B. DLE (Correct Answer)
- C. SLE
- D. Lichen planus
Explanation: ***DLE*** - **Discoid lupus erythematosus (DLE)** lesions are characterized by **erythematous-to-violaceous plaques**, often with **follicular plugging** and a **firmly adherent scale**. - The "carpet tack" sign refers to the painful, prickly projections observed on the undersurface of a removed scale, indicating keratinous plugs within hair follicles, which is highly suggestive of DLE. *Scleroderma* - **Scleroderma** involves **fibrosis** of the skin, leading to hardening and thickening, often preceded by Raynaud's phenomenon. - It does not typically present with elevated red or purple macules with adherent scales or the "carpet tack" sign. *SLE* - **Systemic lupus erythematosus (SLE)** is a multi-system autoimmune disease that can have cutaneous manifestations, but these are often more diffuse (**malar rash**, photosensitivity) or non-scarring. - While DLE can occur in SLE patients, the description specifically points to the localized, scarring nature of DLE rather than the systemic features of SLE itself. *Lichen planus* - **Lichen planus** typically presents with **pruritic, polygonal, planar, purple papules and plaques** (the "6 Ps"). - While it can have scaling, it does not exhibit the "carpet tack" sign or the distinct follicular plugging seen in DLE.
Question 8: Which protein is primarily affected by mutations in Marfan's syndrome?
- A. Collagen I
- B. Collagen IV
- C. Fibrillin I (Correct Answer)
- D. Fibrillin II
Explanation: ***Fibrillin I*** - Marfan's syndrome is caused by a mutation in the **FBN1 gene**, which encodes the protein **fibrillin I**, crucial for connective tissue integrity [1]. - Clinical manifestations include **skeletal abnormalities**, **cardiovascular issues**, and **ocular problems**, linking the mutation to its phenotypic features [1]. *Collagen I* - While collagen is important for connective tissue, **collagen I** mutations are associated with disorders like **osteogenesis imperfecta**, not Marfan's syndrome. - This oes not account for the significant **fibrillin deficiency** noted in Marfan's patients. *Fibrillin II* - **Fibrillin II** does exist but is not the causative factor in Marfan's syndrome; mutations in this protein relate to different syndromes like **Congenital Contractural Arachnodactyly**. - The primary influence in Marfan's is due to the defect in **fibrillin I**, not fibrillin II. *Collagen IV* - Mutations in **collagen IV** are linked to diseases such as **Alport syndrome**, primarily affecting renal function and hearing, rather than the hallmark features of Marfan's. - This type of collagen is more critical for **basement membranes**, differentiating it from the connective tissue role of fibrillin I in Marfan's. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. With Illustrations By, pp. 35-36.
Question 9: In which skin disorder is the appearance of basal cells resembling a row of tombstones observed?
- A. Pemphigus vulgaris (Correct Answer)
- B. Pemphigus foliaceus
- C. Erythema multiforme
- D. Bullous pemphigoid
Explanation: ***Pemphigus vulgaris*** - This autoimmune blistering disease is characterized by **acantholysis** (loss of cell-to-cell adhesion) in the **suprabasal layer** of the epidermis [2]. - The intact basal keratinocytes remain attached to the basement membrane, forming a characteristic "row of **tombstones**" appearance on histology [1]. *Pemphigus foliaceus* - This condition involves acantholysis in the more **superficial granular layer** of the epidermis, above the basal layer [2]. - This leads to subcorneal blistering and **crusted lesions**, but not the tombstone appearance [2]. *Erythema multiforme* - This is a **(type IV hypersensitivity reaction)** characterized by **target lesions** and **vacuolar degeneration** of the basal cell layer. - While it affects the basal layer, it does not involve acantholysis or the "tombstone" pattern. *Bullous pemphigoid* - This is a **subepidermal blistering disease** where autoantibodies target components of the **hemidesmosomes** at the dermoepidermal junction [2]. - The entire epidermis separates from the dermis, resulting in a **tense blister** and no acantholysis or tombstone appearance [2]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Disorders Involving Inflammatory And Haemopoietic Cells, pp. 645-646. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Skin, pp. 1170-1172.
Question 10: Which of the following conditions is NOT associated with retinitis pigmentosa?
- A. Kearns-Sayre Syndrome
- B. Usher Syndrome
- C. Marfan's Syndrome (Correct Answer)
- D. Bassen-Kornzweig Syndrome
Explanation: ***Marfan's Syndrome*** - Marfan's Syndrome is primarily a **connective tissue disorder** affecting the **cardiovascular system**, **skeletal system**, and **eyes** (e.g., lens dislocation). - It is **not directly associated** with the progressive **photoreceptor degeneration** characteristic of retinitis pigmentosa. *Usher Syndrome* - Usher Syndrome is a **recessive genetic disorder** characterized by **hearing loss** and progressive **vision loss** due to retinitis pigmentosa. - It involves both **auditory** and **visual impairments**, directly linking it to retinitis pigmentosa. *Kearns-Sayre Syndrome* - Kearns-Sayre Syndrome is a **mitochondrial disorder** that includes **external ophthalmoplegia**, **cardiac conduction defects**, and often **pigmentary retinopathy** resembling retinitis pigmentosa. - The retinal degeneration in Kearns-Sayre syndrome is a **hallmark ocular manifestation**. *Bassen-Kornzweig Syndrome* - Also known as **abetalipoproteinemia**, this is a rare **autosomal recessive disorder** characterized by the inability to absorb **dietary fats and fat-soluble vitamins** (especially vitamin A). - Severe **vitamin A deficiency** can lead to atypical retinitis pigmentosa-like retinal degeneration and **night blindness**.
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