Pediatric Dermatology Practice Questions

Q: This is the clinical presentation of a 5-year-old boy with lesions worsening in cold weather. His mother says these lesions developed after 1 year of age. His sister has same lesions which developed after 2 years of age. All are true about the condition except:

Steroid sulfatase defect. ***Steroid sulfatase defect*** - A **steroid sulfatase defect** is characteristic of **X-linked ichthyosis**, NOT the condition described here. - This case represents **ichthyosis vulgaris** based on: onset after 1 year of age, autosomal dominant inheritance (affects both siblings), worsening in cold weather, and flexural sparing. - X-linked ichthyosis typically presents at birth or within the first few months, has X-linked inheritance (predominantly males), lacks flexural sparing, and may have associated corneal opacities and cryptorchidism. - **This is the EXCEPTION** - steroid sulfatase defect is NOT true for this condition. *Flexural sparing* - **TRUE statement** - Flexural areas (axillae, antecubital and popliteal fossae, groin) tend to be spared in **ichthyosis vulgaris**. - This is a key distinguishing feature that differentiates ichthyosis vulgaris from X-linked ichthyosis (which affects flexures). *Filaggrin gene mutation* - **TRUE statement** - **Ichthyosis vulgaris** is caused by **loss-of-function mutations** in the **FLG gene** encoding **filaggrin**. - Filaggrin is essential for skin barrier function; its deficiency leads to dry, scaly skin with a defective epidermal barrier. - This is the most common inherited disorder of keratinization. *Ichthyosis* - **TRUE statement** - The clinical presentation (fish-like scales, onset after infancy, worsening in cold weather, positive family history) is classic for **ichthyosis vulgaris**. - The autosomal dominant inheritance pattern (both male and female siblings affected) confirms this diagnosis.

Q: An 8-year-old boy who was diagnosed with hypertrophic cardiomyopathy has reddish papules all over the body developing after birth. He also complains of severe pain in hands and feet. Which of the following is correct?

Angiokeratoma, Fabry's disease. ***Angiokeratoma, Fabry's disease*** - The constellation of **hypertrophic cardiomyopathy**, **reddish papules (angiokeratomas)**, and **severe pain in hands and feet (acroparesthesias)** are classic symptoms of **Fabry's disease**. - Fabry's disease is an **X-linked lysosomal storage disorder** caused by a deficiency of **alpha-galactosidase A**, leading to the accumulation of globotriaosylceramide (Gb3). *Actinic keratosis, Xeroderma pigmentosa* - **Actinic keratosis** are precancerous skin lesions caused by sun exposure, typically appearing in older adults, not as widespread papules from birth in a child. - **Xeroderma pigmentosum** is characterized by extreme sensitivity to UV light, leading to a high incidence of skin cancers, freckle-like pigmentation, and ocular abnormalities, but not typically hypertrophic cardiomyopathy or these specific papules. *Pseudoxanthomas, pseudoxanthoma elasticum* - **Pseudoxanthoma elasticum** causes small, yellowish papules, mainly on flexible skin areas, along with angioid streaks in the retina and cardiovascular issues due to calcification of elastic fibers. - While it can involve the heart, it doesn't typically present with the widespread reddish papules (angiokeratomas) or the severe acroparesthesias described. *Angiofibroma, tuberous sclerosis* - **Angiofibromas** are facial papules associated with **tuberous sclerosis**, which is also characterized by brain tubers, renal angiomyolipomas, and hypomelanotic macules. - While tuberous sclerosis can cause cardiac rhabdomyomas (tumors), it is not typically associated with widespread angiokeratomas or acroparesthesias as seen in this case.

Q: A 7-month-old child after weaning develops diarrhea and following skin lesions. The lesions did not respond to topical clotrimazole. All are true about the condition except:

Granulocytes show giant granules. **Granulocytes show giant granules** - This statement is **incorrect** as giant granules in granulocytes are characteristic of **Chédiak-Higashi syndrome**, a distinct immunodeficiency disorder, not acrodermatitis enteropathica. - Chédiak-Higashi syndrome presents with recurrent infections, oculocutaneous albinism, and neurological abnormalities. *Autosomal recessive* - **Acrodermatitis enteropathica** is an **autosomal recessive** genetic disorder caused by a defect in zinc absorption. - The symptoms appear after weaning as breast milk contains zinc-binding ligands that aid absorption, which are absent in other foods. *Eczematous lesions around orifices* - The characteristic rash of acrodermatitis enteropathica includes **eczematous lesions** that are often **periorificial** (around the mouth, anus, and nostrils) and acral (on the hands and feet). - These lesions are typically erythematous, vesiculobullous, and can become pustular or crusted, and do not respond to typical antifungal treatments like clotrimazole. *Diffuse alopecia* - **Hair loss (alopecia)** is a common dermatological manifestation of **zinc deficiency** in acrodermatitis enteropathica, often presenting as diffuse thinning. - Other common features include **diarrhea** and **growth retardation**, as well as immune dysfunction.

Q: All are true about this lesion seen in a child with epilepsy except:

Minor criteria for diagnosis. ***Minor criteria for diagnosis*** - The presented lesion is a **Shagreen patch**, which is considered a **major diagnostic criterion** for **Tuberous Sclerosis Complex (TSC)**, not a minor one. - A definitive diagnosis of TSC requires two major criteria or one major and two minor criteria. *Collagenoma* - A Shagreen patch is a type of dermal **collagenoma**, characterized by an overgrowth of connective tissue, primarily collagen. - These lesions often feel like **roughened or leathery plaques** on the skin. *Peau d'orange appearance* - The Shagreen patch is often described as having a **'peau d'orange'** or orange peel-like texture due to its irregular surface. - This characteristic texture helps in its clinical identification. *Predominantly seen over trunk* - Shagreen patches are typically located on the **trunk**, especially in the lumbosacral region, as seen in the image. - They are one of the distinctive cutaneous manifestations of TSC.

Q: What is the diagnosis of the lesion visible in neck folds of this child?

Intertriginous candida. ***Intertriginous candida*** - The image shows **erythema, scaling, and white satellite lesions** in a skin fold, which is characteristic of candidal intertrigo. - This condition thrives in **warm, moist environments** like neck folds of infants, often presenting with burning and itching. *SSSS* - **Staphylococcal Scalded Skin Syndrome (SSSS)** is characterized by widespread **erythema and superficial blistering**, leading to skin peeling, which is not seen here. - It usually involves a more diffuse rash and often has a **positive Nikolsky sign**, unlike the localized lesion shown. *Impetigo* - **Impetigo** typically presents with **honey-colored crusts** and is caused by bacterial infection, primarily *Staphylococcus aureus* or *Streptococcus pyogenes*. - While it can occur in skin folds, the characteristic white, cheesy appearance and satellite lesions seen in the image are not typical of impetigo. *Ecthyma* - **Ecthyma** is a more severe, ulcerative form of impetigo, characterized by **punched-out ulcers with adherent crusts** that extend into the dermis. - The lesion in the image does not show the deep ulceration or dense, dark crusts associated with ecthyma.

Q: A one-year-old child presents with the following lesion on the face. His mother has a history of bronchial asthma. What is the diagnosis?

Atopic dermatitis. ***Atopic dermatitis*** - The rash on the face of a one-year-old, coupled with a maternal history of **bronchial asthma**, strongly suggests **atopic dermatitis (eczema)** due to its association with the **atopic triad** (eczema, asthma, allergic rhinitis). - In infants, atopic dermatitis commonly presents as erythematous, scaly, and sometimes **weeping patches** on the face and extensor surfaces. *Eczematous dermatitis* - While atopic dermatitis is a form of eczematous dermatitis, this term is **too broad** and does not specify the underlying cause evident from the patient's history. - Eczematous dermatitis describes a **pattern of inflammation** rather than a specific diagnosis. *Seborrheic dermatitis* - Typically characterized by **greasy, yellowish scales** on an erythematous base, often affecting the scalp (**cradle cap**), eyebrows, and nasolabial folds. - It usually **lacks the strong association with atopy** seen in this case. *Contact dermatitis* - Caused by exposure to an **irritant or allergen**, leading to a localized rash. - The diffuse nature of the rash in the image and the family history of asthma make a specific contact allergen less likely as the primary cause.

Q: The diagnosis of the child shown in the image is:

Cradle cap. **Correct: Cradle cap** - The image shows typical **yellowish, greasy, scaly patches** on the baby's scalp and forehead, which are characteristic of infantile **seborrheic dermatitis**, commonly known as cradle cap. - This condition is non-itchy and common in infants, usually resolving on its own. *Incorrect: Atopic dermatitis* - Characterized by **red, itchy, and dry skin**, often appearing in skin folds or on the cheeks in infants. - While it can be widespread, the prominent greasy scaling seen here is less typical of atopic dermatitis. *Incorrect: Discoid eczema* - Presents as **coin-shaped, itchy, red plaques** with vesicles and crusts, most commonly on the limbs. - It is rare in infants and does not typically manifest with the widespread superficial scaling seen on the scalp and face in the image. *Incorrect: Psoriasis* - More common in older children and adults, presenting as **well-demarcated, red patches with silvery scales**. - Infantile psoriasis (napkin psoriasis) usually affects the diaper area and is less likely to present with diffuse greasy scaling on the scalp and face as shown.

Q: Consider the following in respect of Salmon patch : 1. It is a hemangioma. 2. Its usual site is nape of neck. 3. It is common in children. 4. It needs surgical excision. Which of the statements given above are correct ?

2 and 3. ***2 and 3*** - **Salmon patches**, also known as nevus simplex or stork bites, are common capillary malformations occurring in up to 70% of newborns, making them common in children. - They frequently appear on the **nape of the neck**, eyelids, glabella, and forehead. *1, 3 and 4* - Salmon patches are **capillary malformations**, not true hemangiomas, which are benign vascular tumors. - They are typically benign and resolve spontaneously, and therefore **do not require surgical excision**. *1, 2 and 4* - Salmon patches are **capillary malformations**, not hemangiomas, and are common in children and usually found on the nape of the neck. - They are benign and **do not require surgical excision**, as most fade spontaneously. *1, 2 and 3* - Salmon patches are a type of **capillary malformation**, distinct from hemangiomas. - While they are common in children and often found on the nape of the neck, they are not hemangiomas.

Q: A child presents with itchy lesions and diarrhea and has been advised to follow a gluten-free diet. What is the most likely etiology of this condition?

Celiac disease. ***Celiac disease*** - **Celiac disease** is an autoimmune condition triggered by **gluten ingestion**, leading to small intestine damage and nutrient malabsorption. - The combination of **itchy lesions** (dermatitis herpetiformis, a skin manifestation of celiac disease), **diarrhea**, and improvement on a **gluten-free diet** are highly characteristic. - Since the question asks for the **underlying etiology**, celiac disease is the correct answer as it causes both the skin and GI manifestations. *Whipple's disease* - This is a rare systemic infection caused by the bacterium **Tropheryma whipplei**, presenting with **arthralgia, fever, malabsorption, and lymphadenopathy**. - While it can cause diarrhea and malabsorption, it is not associated with itchy skin lesions and does not respond to a gluten-free diet. *Crohn's disease* - **Crohn's disease** is a type of inflammatory bowel disease affecting any part of the GI tract, causing **abdominal pain, diarrhea, and weight loss**. - It is not associated with dermatitis herpetiformis and does not improve with a gluten-free diet (though some patients may have gluten sensitivity). *Dermatitis herpetiformis* - **Dermatitis herpetiformis** is the **cutaneous manifestation of celiac disease**, presenting as intensely itchy, vesicular lesions. - While DH explains the itchy lesions in this case, it is a **symptom/manifestation**, not the underlying **etiology**—the root cause is celiac disease itself, which produces both the intestinal damage (diarrhea) and the skin manifestations (DH).

Q: A child presented with asymptomatic lesions on the forearm and on the shaft of the penis. The lesions on the forearm are shown below. What is the most likely diagnosis?

Lichen nitidus. ***Lichen nitidus*** - Presents as **multiple, asymptomatic, tiny (1-2 mm), shiny, dome-shaped papules** that are often skin-colored or slightly hypopigmented, as seen in the image and described. - Common sites include the **forearms, penis, abdomen, and flexural areas**, consistent with the case presentation. *Lichen planus* - Characterized by **purplish, polygonal, planar, pruritic papules and plaques**, often with **Wickham's striae**, which are not seen in the image. - While it can affect the penis, its lesions are typically more intensely colored and often symptomatic (**itchy**), unlike the asymptomatic lesions described. *Scabies* - Presents with intensely **pruritic papules, vesicles, and burrows**, especially in the web spaces of fingers, wrists, axillae, and genitalia, which are very symptomatic and not usually described as shiny papules. - The primary symptom is **severe itching**, which is absent in this patient. *Scrofuloderma* - A form of **cutaneous tuberculosis** presenting as cold abscesses that eventually rupture to form ulcers, sinuses, and scars. - The image shows distinct, small papules, not ulcerating or scarring lesions characteristic of scrofuloderma.

Question 1

This is the clinical presentation of a 5-year-old boy with lesions worsening in cold weather. His mother says these lesions developed after 1 year of age. His sister has same lesions which developed after 2 years of age. All are true about the condition except:

Accepted Answer

Steroid sulfatase defect

Answer

Flexural sparing

Answer

Filaggrin gene mutation

Answer

Ichthyosis

Question 2

An 8-year-old boy who was diagnosed with hypertrophic cardiomyopathy has reddish papules all over the body developing after birth. He also complains of severe pain in hands and feet. Which of the following is correct?

Accepted Answer

Angiokeratoma, Fabry's disease

Answer

Actinic keratosis, Xeroderma pigmentosa

Answer

Pseudoxanthomas, pseudoxanthoma elasticum

Answer

Angiofibroma, tuberous sclerosis

Question 3

A 7-month-old child after weaning develops diarrhea and following skin lesions. The lesions did not respond to topical clotrimazole. All are true about the condition except:

Accepted Answer

Granulocytes show giant granules

Answer

Autosomal recessive

Answer

Eczematous lesions around orifices

Answer

Diffuse alopecia

Question 4

All are true about this lesion seen in a child with epilepsy except:

Accepted Answer

Minor criteria for diagnosis

Answer

Collagenoma

Answer

Peau d'orange appearance

Answer

Predominantly seen over trunk

Question 5

What is the diagnosis of the lesion visible in neck folds of this child?

Accepted Answer

Intertriginous candida

Answer

SSSS

Answer

Impetigo

Answer

Ecthyma

Question 6

A one-year-old child presents with the following lesion on the face. His mother has a history of bronchial asthma. What is the diagnosis?

Accepted Answer

Atopic dermatitis

Answer

Eczematous dermatitis

Answer

Seborrheic dermatitis

Answer

Contact dermatitis

Question 7

The diagnosis of the child shown in the image is:

Accepted Answer

Cradle cap

Answer

Atopic dermatitis

Answer

Discoid eczema

Answer

Psoriasis

Question 8

Consider the following in respect of Salmon patch :

1. It is a hemangioma.
2. Its usual site is nape of neck.
3. It is common in children.
4. It needs surgical excision. Which of the statements given above are correct ?

Accepted Answer

2 and 3

Answer

1, 3 and 4

Answer

1, 2 and 4

Answer

1, 2 and 3

Question 9

A child presents with itchy lesions and diarrhea and has been advised to follow a gluten-free diet. What is the most likely etiology of this condition?

Accepted Answer

Celiac disease

Answer

Whipple's disease

Answer

Crohn's disease

Answer

Dermatitis herpetiformis

Question 10

A child presented with asymptomatic lesions on the forearm and on the shaft of the penis. The lesions on the forearm are shown below. What is the most likely diagnosis?

Accepted Answer

Lichen nitidus

Answer

Lichen planus

Answer

Scabies

Answer

Scrofuloderma

Pediatric Dermatology — MCQs

Pediatric Dermatology — MCQs

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