Muir–Torre syndrome shows
Richner-Hanhart syndrome is characterized by which of the following?
The appearance described as an inverted champagne bottle is associated with which condition?
What is the best method to treat a large port-wine stain?
Loss of intercellular cohesion between keratinocytes is referred to as?
In which of the following conditions is the Koebner phenomenon most commonly observed?
Which of the following is not a feature of dermatomyositis?
Phrynoderma is primarily associated with a deficiency of which of the following?
Which of the following statements about spider telangiectasia is false?
NEET-PG 2012 - Dermatology NEET-PG Practice Questions and MCQs
Question 11: Muir–Torre syndrome shows
- A. Sebaceous gland tumors (Correct Answer)
- B. Intestinal polyps
- C. Lisch nodules
- D. Hyperelastic joints
Explanation: ***Sebaceous gland tumors*** - **Muir-Torre syndrome** is a genetic condition characterized by the presence of at least one **sebaceous gland tumor** (adenoma, epithelioma, or carcinoma) and at least one internal malignancy. - It is considered a variant of **Lynch syndrome (hereditary nonpolyposis colorectal cancer - HNPCC)**, stemming from germline mutations in **DNA mismatch repair genes**. *Intestinal polyps (associated with familial adenomatous polyposis)* - While Lynch syndrome (to which Muir-Torre is related) does involve an increased risk of colorectal cancer, **multiple intestinal polyps** are the hallmark of **Familial Adenomatous Polyposis (FAP)**. - FAP is caused by a mutation in the **APC gene**, distinct from the mismatch repair gene mutations seen in Muir-Torre syndrome. *Lisch nodules (associated with Neurofibromatosis type 1)* - **Lisch nodules** are benign **iris hamartomas** typically found in patients with **Neurofibromatosis type 1 (NF1)**. - NF1 is a neurocutaneous disorder caused by a mutation in the **NF1 gene**, presenting with café-au-lait spots, neurofibromas, and optic gliomas, which are unrelated to Muir-Torre syndrome. *Hyperelastic joints (associated with Ehlers-Danlos syndrome)* - **Hyperelasticity of joints** and skin is a characteristic feature of **Ehlers-Danlos syndrome (EDS)**, a group of heritable disorders affecting connective tissue. - EDS is caused by defects in **collagen synthesis or processing**, and its clinical manifestations are distinct from the mucocutaneous and internal malignancies seen in Muir-Torre syndrome.
Question 12: Richner-Hanhart syndrome is characterized by which of the following?
- A. Autosomal dominant
- B. Associated with abnormality in lipid metabolism
- C. Ocular and cutaneous features (Correct Answer)
- D. Never associated with neurological involvement
Explanation: ***Ocular and cutaneous features*** - **Richner-Hanhart syndrome**, also known as **Tyrosinemia type II**, is characterized by the classic triad of **painful hyperkeratotic plaques** on the palms and soles (cutaneous features), **corneal ulcers** or **dendritic keratitis** (ocular features), and **variable neurological involvement**. - These features arise from the accumulation of **tyrosine** due to a deficiency of the enzyme **hepatic tyrosine aminotransferase (TAT)**. - The **ocular and cutaneous manifestations** are the hallmark features that define this syndrome. *Autosomal dominant* - Richner-Hanhart syndrome is inherited in an **autosomal recessive** pattern, meaning two copies of the defective gene (TAT gene on chromosome 16) are required for the condition to manifest. - An **autosomal dominant** inheritance pattern would mean only one copy of the defective gene is sufficient to cause the disorder. *Associated with abnormality in lipid metabolism* - The syndrome is an inborn error of **amino acid metabolism**, specifically involving **tyrosine**, not lipid metabolism. - Diseases associated with abnormality in **lipid metabolism** include conditions like Gaucher disease, Niemann-Pick disease, or Fabry disease. *Never associated with neurological involvement* - This is **incorrect**. **Neurological involvement** including intellectual disability, developmental delay, seizures, and behavioral problems occurs in **30-50% of cases**. - The accumulation of **tyrosine** and its metabolites (particularly tyrosine crystals) can be **neurotoxic**, leading to varying degrees of neurological impairment. - Early dietary restriction of tyrosine and phenylalanine can prevent or minimize neurological complications.
Question 13: The appearance described as an inverted champagne bottle is associated with which condition?
- A. Varicose veins
- B. Deep vein thrombosis
- C. Venous ulceration
- D. Lipodermatosclerosis (Correct Answer)
Explanation: ***Lipodermatosclerosis*** - This condition presents with a characteristic "inverted champagne bottle" appearance, where the **ankle area is narrow** and the **calf area above it is wider** due to fibrotic changes and fat atrophy. - It's a severe manifestation of **chronic venous insufficiency**, characterized by **skin hardening**, pigmentation, and inflammation, often preceding venous ulceration. *Varicose veins (enlarged, twisted veins)* - While associated with **venous insufficiency**, varicose veins themselves are **dilated, tortuous superficial veins**, and do not typically cause the generalized lower leg shape change described. - They may cause swelling and discomfort but do not directly lead to the **fibrotic narrowing** seen in an "inverted champagne bottle" leg. *Deep vein thrombosis (DVT) (acute venous obstruction)* - DVT is an **acute condition** involving a **blood clot in a deep vein**, leading to sudden onset pain, swelling, and redness. - It does not cause the **chronic skin changes** and **fibrotic reshaping** of the calf and ankle that characterize lipodermatosclerosis. *Venous ulceration (open sores due to venous insufficiency)* - Venous ulcers are **open sores** that occur in severe chronic venous insufficiency, often found above the medial malleolus. - While they are a complication of the underlying venous disease that can also cause lipodermatosclerosis, the ulceration itself is a **skin lesion**, not the **overall inverted champagne bottle shape** of the leg.
Question 14: What is the best method to treat a large port-wine stain?
- A. Radiotherapy
- B. Excision with skin grafting
- C. Pulsed dye laser (Correct Answer)
- D. Tattooing
Explanation: ***Pulsed dye laser*** - The **pulsed dye laser (PDL)** is considered the **gold standard** for treating port-wine stains due to its specific targeting of hemoglobin in the dilated capillaries without damaging surrounding tissue. - This treatment involves multiple sessions to progressively lighten the stain and prevent complications such as **nodularity** and **tissue hypertrophy**. *Radiotherapy* - **Radiotherapy** is generally not recommended for port-wine stains due to its potential for **scarring**, **pigment changes**, and risk of **malignancy**. - It is an aggressive treatment typically reserved for **cancerous conditions** or severe proliferative vascular lesions not amenable to other treatments. *Tattooing* - **Tattooing** involves injecting skin-colored pigments into the lesion to camouflage it, but it does not treat the underlying vascular abnormality. - This method can result in an **artificial appearance**, **uneven coverage**, and potential for **allergic reactions** or infections. *Excision with skin grafting* - **Surgical excision** of a large port-wine stain would result in a **significant scar** and require **skin grafting**, which carries risks of graft failure, poor aesthetic outcome, and color mismatch. - This method is generally reserved for very small, localized lesions or those with significant **nodular hypertrophy** that cannot be effectively managed by laser therapy.
Question 15: Loss of intercellular cohesion between keratinocytes is referred to as?
- A. Acanthosis
- B. Acantholysis (Correct Answer)
- C. Keratinolysis
- D. Spongiosis
Explanation: ***Acantholysis*** - This term specifically refers to the **loss of cohesion between keratinocytes** in the epidermis due to the breakdown of desmosomal attachments. - It is a hallmark feature of several **blistering skin diseases**, such as pemphigus. *Acanthosis* - This refers to the **thickening of the stratum spinosum** (prickle cell layer) of the epidermis, often due to an increase in the number of keratinocytes. - It is seen in conditions like **psoriasis** and seborrheic keratosis, but does not involve a loss of intercellular cohesion. *Keratinolysis* - This term describes the **breakdown or dissolution of keratin**, which is the primary structural protein of the epidermis. - While keratinocytes produce keratin, keratinolysis itself is not the specific term for loss of cohesion between these cells. *Spongiosis* - This is defined as **intercellular edema** (fluid accumulation) within the epidermis, especially prominent in the stratum spinosum. - It leads to the widening of intercellular spaces and stretching of desmosomes, but the cells generally remain attached, unlike in acantholysis.
Question 16: In which of the following conditions is the Koebner phenomenon most commonly observed?
- A. Psoriasis (Correct Answer)
- B. Lichen planus
- C. All of the options
- D. Viral warts
Explanation: ***Correct: Psoriasis*** - **Psoriasis** is the **most classic and commonly cited example** of the Koebner phenomenon (isomorphic response) - New psoriatic plaques characteristically develop at sites of cutaneous trauma, scratches, or surgical incisions in 25-50% of psoriasis patients - This is a **pathognomonic feature** frequently tested in competitive exams and considered the prototype condition for demonstrating this phenomenon - The mechanism involves inflammatory cascades triggered by trauma in genetically predisposed skin *Incorrect: Lichen planus* - While lichen planus does exhibit the Koebner phenomenon with purplish polygonal papules appearing along scratch lines, it is **less commonly observed** compared to psoriasis - Seen in approximately 10-25% of lichen planus cases - Not considered the primary example when teaching about Koebner phenomenon *Incorrect: Viral warts* - Viral warts can demonstrate **pseudo-Koebner phenomenon** where new warts form along trauma lines due to viral inoculation - This is more accurately described as **autoinoculation** rather than true isomorphic response - Less commonly discussed in the context of classic Koebner phenomenon compared to psoriasis *Incorrect: All of the options* - While all three conditions can show Koebner-like responses, the question asks for "**most commonly observed**" - Psoriasis remains the **gold standard** and most frequently encountered example in clinical practice and medical literature
Question 17: Which of the following is not a feature of dermatomyositis?
- A. Salmon Patch (Correct Answer)
- B. Periungual telangiectasias
- C. Gottron's patch
- D. Mechanic's hands
Explanation: ***Salmon Patch*** - A **salmon patch** (also known as a nevus simplex or stork bite) is a common, benign vascular birthmark that presents as a flat, red or pink patch. - It is **not associated with dermatomyositis** and has no pathogenic link to the condition. *Gottron's patch* - **Gottron's patches** are a classic cutaneous manifestation of dermatomyositis, characterized by erythematous, violaceous, or dusky red papules or plaques over the **extensor surfaces of the metacarpophalangeal and interphalangeal joints**. - Their presence is highly suggestive of dermatomyositis, often preceding or co-occurring with muscle weakness. *Periungual telangiectasias* - **Periungual telangiectasias** are dilated capillaries around the nail folds and are a common skin manifestation of dermatomyositis. - They represent small vessel vasculopathy, a histological feature, and suggest microvascular damage often seen in systemic connective tissue diseases like dermatomyositis. *Mechanic's hands* - **Mechanic's hands** are a cutaneous feature seen in dermatomyositis (and other inflammatory myopathies like antisynthetase syndrome). - They are characterized by **hyperkeratosis**, fissuring, and scaling of the skin, particularly on the lateral and palmar aspects of the fingers, resembling the hands of a manual laborer.
Question 18: Phrynoderma is primarily associated with a deficiency of which of the following?
- A. Essential fatty acid
- B. Vitamin A (Correct Answer)
- C. Vitamin D
- D. Niacin
Explanation: ***Vitamin A*** - **Phrynoderma** (toad skin) has been **classically attributed to vitamin A deficiency** in traditional medical literature and was the accepted answer in historical examinations. - It presents as **follicular hyperkeratosis** with dry, scaly, rough skin having prominent hair follicles with a sandpaper-like texture. - However, **modern evidence** suggests phrynoderma is a **multifactorial condition** often involving **multiple nutritional deficiencies**, with vitamin A being one important contributor among others. *Essential fatty acid* - Deficiency of **essential fatty acids** (linoleic and alpha-linolenic acid) causes **skin dryness, flakiness, and follicular hyperkeratosis**. - **Recent studies** indicate EFA deficiency may play a **significant role** in phrynoderma, particularly in developing countries where multiple nutritional deficiencies coexist. - The clinical presentation can closely mimic vitamin A deficiency-related skin changes. *Vitamin D* - Deficiency of **vitamin D** primarily causes **rickets** in children and **osteomalacia** in adults with bone pain, muscle weakness, and skeletal deformities. - While vitamin D has roles in skin health, its deficiency does not directly cause the follicular hyperkeratosis characteristic of phrynoderma. *Niacin* - **Niacin (vitamin B3)** deficiency causes **pellagra** with the classic \"3 Ds\": **dermatitis, diarrhea, and dementia**. - Pellagra dermatitis is typically **symmetrical in sun-exposed areas** with redness, scaling, and hyperpigmentation—distinctly different from the follicular pattern of phrynoderma.
Question 19: Which of the following statements about spider telangiectasia is false?
- A. More common in males (Correct Answer)
- B. Light therapy for treatment
- C. May be associated with liver disease
- D. Can be caused by trauma
Explanation: ***More common in males*** - This statement is **FALSE** because spider telangiectasias (spider nevi/spider angiomas) are more commonly observed in **females**, often due to hormonal influences like **estrogen**. - They are frequently associated with conditions such as **pregnancy**, **oral contraceptive use**, or **chronic liver disease**, highlighting a female predominance. - The estrogen-dependent nature explains their higher prevalence in women of reproductive age. *Can be caused by trauma* - This statement is **TRUE** in a broader sense, though classical spider telangiectasias are primarily hormonally-mediated rather than traumatic. - While **simple telangiectasias** can develop after localized trauma or repeated pressure, spider telangiectasias have a characteristic morphology (central arteriole with radiating vessels) and are typically associated with **estrogen excess** or **liver disease**. - For exam purposes, this is considered a true statement as telangiectatic vessels can be influenced by local factors. *Light therapy for treatment* - This statement is **TRUE**. **Laser therapy**, specifically **pulsed dye laser (PDL)** or **intense pulsed light (IPL)**, is the most effective treatment for spider telangiectasias. - The laser selectively targets **hemoglobin** in the dilated vessels, causing photocoagulation and vessel obliteration, leading to excellent cosmetic results. *May be associated with liver disease* - This statement is **TRUE**. Spider telangiectasias are a well-recognized cutaneous manifestation of **chronic liver disease**, especially **cirrhosis**. - Impaired hepatic function leads to decreased **estrogen metabolism** (hyperestrogenemia), contributing to the development of these vascular lesions. - They are one of the stigmata of chronic liver disease, along with palmar erythema and gynecomastia.