Pediatric Dermatology Practice Questions

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: The image shows a newborn with characteristic skin findings. What is the most likely diagnosis?

Collodion baby. ***Correct: Collodion baby*** - This image shows a newborn with **taut, shiny, cellophane-like skin**, which is peeling and has fissures, typical features of a **collodion baby**. - This condition is a phenotypic presentation of several genetic disorders of cornification, often signaling underlying **ichthyosis**. - The membrane typically **desquamates over the first few weeks of life**, revealing the underlying ichthyotic skin in most cases. *Incorrect: Star gazer baby* - A "star-gazer" baby typically refers to an infant with severe **hydrocephalus** whose orbits are rotated downwards, creating a characteristic "setting sun" sign, which is not depicted here. - The term is not primarily dermatological and does not describe the skin condition seen in the image. *Incorrect: Infant of diabetic mother* - Infants of diabetic mothers often present with **macrosomia**, organomegaly, and metabolic disturbances such as **hypoglycemia**. - They typically do not exhibit severe, generalized skin abnormalities like the tight, shedding skin shown in the image. *Incorrect: Hemihypertrophy* - Hemihypertrophy describes the **asymmetrical overgrowth** of one side or part of the body. - This condition is primarily characterized by size disparity between body parts, not generalized skin texture or peeling as seen in the image.

Q: Identify the neurocutaneous disorder.

Sturge-Weber syndrome. ***Sturge-Weber syndrome*** - The clinical image shows a characteristic **port-wine stain** (nevus flammeus) on the face, which is the hallmark cutaneous feature of Sturge-Weber syndrome. - This **neurocutaneous disorder** is associated with **leptomeningeal angiomas** causing seizures, developmental delays, and characteristic **tram-track calcifications** on brain imaging. *Von Hippel-Lindau syndrome* - This syndrome primarily causes **hemangioblastomas** in the CNS and retina, along with **renal cell carcinomas** and **pheochromocytomas**. - It does not present with the facial **port-wine stain** seen in the image, which is pathognomonic for Sturge-Weber syndrome. *Tuberous sclerosis* - Characterized by **hamartomatous lesions** including **cortical tubers**, **subependymal nodules**, and skin manifestations like **ash-leaf spots** and **facial angiofibromas**. - The **port-wine stain** shown in the image is not a feature of tuberous sclerosis, which has distinctly different cutaneous manifestations. *Ataxia telangiectasia* - This disorder presents with **progressive cerebellar ataxia**, **immunodeficiency**, and **conjunctival telangiectasias** (spider veins in the eyes). - The facial **port-wine stain** is not associated with ataxia telangiectasia, which has different neurological and cutaneous features.

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 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.

Q: A 5-month-old child presented to the dermatology OPD with dryness along with white, fine scales on most parts of the body with sparing of face. The child was born at 39 weeks gestation by spontaneous vaginal delivery outside the hospital. On examination, fine, white scales were observed predominantly on the extensor surfaces of the limbs along with characteristic hyperlinearity of palms and accentuation of skin markings. Which of the following genes is most likely defective in the above condition:

Filaggrin. ***Filaggrin*** - The clinical description of **fine, white scales**, **facial sparing**, **extensor surface involvement**, and **palmar hyperlinearity** is classic for **ichthyosis vulgaris**, the most common inherited disorder of keratinization. - **Filaggrin (FLG)** gene mutations are the most common cause of ichthyosis vulgaris, leading to impaired formation of the skin barrier and loss of natural moisturizing factor. - Typically presents between 3-12 months of age with xerosis and fine scaling. - Key features include **facial sparing**, **flexural sparing**, and **prominent palmar/plantar markings**. *Desmoglein* - **Desmoglein 1** and **Desmoglein 3** are desmosomal cadherins associated with **pemphigus** (autoimmune blistering disorder). - Desmoglein mutations do not cause ichthyotic scaling disorders. - The clinical presentation of fine scaling with facial sparing is not consistent with pemphigus or other desmoglein-related conditions. *Plakophilin* - **Plakophilin-1** mutations cause **ectodermal dysplasia-skin fragility syndrome**, characterized by skin erosions, blistering, alopecia, and nail dystrophy. - Does not present with generalized dry scaling or the pattern described in this case. - Skin fragility and erosions are the hallmark, not ichthyosis. *Plakoglobin* - **Plakoglobin (JUP gene)** mutations cause **Naxos disease**, featuring the triad of arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. - While palmoplantar involvement occurs, it is a focal keratoderma, not generalized fine scaling with facial sparing. - Cardiac manifestations are the most serious feature of this condition.

Q: Earliest feature of Tuberous sclerosis is:

Ash leaf spot. ***Ash leaf spot*** - **Ash leaf spots**, also known as hypomelanotic macules, are typically the **earliest visible sign** of Tuberous Sclerosis Complex (TSC) and are often present at birth or manifest in early infancy. - These are **lightly pigmented macules** that can be observed using a Wood's lamp, which makes them more apparent. *Neurofibroma* - **Neurofibromas** are characteristic lesions of **Neurofibromatosis Type 1 (NF1)**, not Tuberous Sclerosis Complex. - While they can appear early in life, they are not associated with TSC. *Angiofibroma* - **Facial angiofibromas** (also known as adenoma sebaceum) are common findings in TSC but usually develop later, often appearing in **childhood or adolescence**. - They are typically small, red-to-flesh-colored papules found on the nose and cheeks. *Shagreen patch* - A **shagreen patch** is a connective tissue nevus that appears as a textured, leathery plaque, typically on the lower back or flank. - While characteristic of TSC, it usually becomes noticeable later in childhood and is **not considered the earliest feature**.

Q: Acrodermatitis enteropathica is associated with deficiency of?

Zinc. ***Zinc*** - **Acrodermatitis enteropathica** is a rare, autosomal recessive genetic disorder characterized by impaired **zinc absorption**, leading to **zinc deficiency** [1]. - Clinical manifestations include **dermatitis**, **diarrhea**, and **alopecia**, which respond dramatically to **zinc supplementation** [1]. *Vitamin B12* - Deficiency of **Vitamin B12** (cobalamin) is associated with **megaloblastic anemia** and **neurological symptoms**, not typically acrodermatitis. - Causes include **pernicious anemia**, malabsorption disorders, and strict vegan diets. *Molybdenum* - **Molybdenum** is a trace element that acts as a cofactor for several enzymes, but its deficiency is **extremely rare** and not associated with acrodermatitis enteropathica. - Symptoms of molybdenum deficiency, if they occur, are non-specific and may include neurological disturbances. *Free fatty acids* - Deficiency in **essential free fatty acids**, particularly **linoleic acid** and **alpha-linolenic acid**, can lead to skin problems like scaling and dryness. - However, it does not typically present with the classic triad of symptoms seen in acrodermatitis enteropathica, which is primarily due to zinc malabsorption.

Q: Which of the following diseases of the skin is the most likely to be associated with partial anodontia?

hereditary ectodermal dysplasia. ***Hereditary ectodermal dysplasia*** - This condition is characterized by abnormal development of **ectodermal structures**, including teeth, hair, nails, and sweat glands. - **Partial anodontia** (the congenital absence of some teeth) or even complete anodontia (**oligodontia**) is a hallmark clinical feature of ectodermal dysplasia due to impaired tooth bud formation. *Erythema multiforme* - This is an **acute, self-limiting inflammatory reaction** of the skin and mucous membranes, often triggered by infections (e.g., HSV) or medications. - It presents with characteristic **target lesions** and mucosal erosions but is not associated with dental developmental abnormalities like anodontia. *Lichen planus* - This is a **chronic inflammatory mucocutaneous disorder** affecting the skin, hair, nails, and mucous membranes, often presenting with **pruritic, purple, polygonal papules**. - It is an immune-mediated condition and does not involve developmental defects of teeth. *Keratosis follicularis* - Also known as **Darier disease**, this is an **autosomal dominant disorder** characterized by abnormal keratinization, leading to greasy, crusted papules primarily in seborrheic areas. - While it affects skin appendages, it is not directly linked to tooth agenesis or partial anodontia.

Q: Baby born with membrane around him at the time of birth. Which of the following conditions is depicted?

Lamellar ichthyosis (collodion membrane at birth). ***Lamellar ichthyosis (collodion membrane at birth)*** - This condition is characterized by a "collodion membrane" at birth, which is a **tight, shiny, parchment-like membrane** that covers the entire body. - The membrane typically **sheds within weeks**, revealing underlying scaling and erythema characteristic of lamellar ichthyosis. *X-linked ichthyosis (steroid sulfatase deficiency)* - Marked by **dark brown, adherent scales**, primarily affecting the neck, trunk, and extensor surfaces. - It usually becomes apparent **several weeks or months after birth** and is not typically associated with a collodion membrane. *Generalized hyperkeratosis (thickened skin)* - This is a general term for **thickening of the outermost layer of the epidermis** and is a feature of many ichthyoses, not a specific condition with a "membrane at birth." - It describes a **symptom** rather than a primary diagnosis presenting with a specific birth membrane. *Ichthyosis vulgaris (dry, scaly skin)* - Presents with **fine, white scaling**, most prominent on the extensor surfaces of the limbs, but it **rarely appears at birth**. - It is typically **mild** and often worsens in dry, cold weather, lacking the characteristic "membrane around him" at birth.

Question 1

The diagnosis of the child shown in the image is:

Accepted Answer

Cradle cap

Answer

Atopic dermatitis

Answer

Discoid eczema

Answer

Psoriasis

Question 2

The image shows a newborn with characteristic skin findings. What is the most likely diagnosis?

Accepted Answer

Collodion baby

Answer

Star gazer baby

Answer

Infant of diabetic mother

Answer

Hemihypertrophy

Question 3

Identify the neurocutaneous disorder.

Accepted Answer

Sturge-Weber syndrome

Answer

Von Hippel-Lindau syndrome

Answer

Tuberous sclerosis

Answer

Ataxia telangiectasia

Question 4

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 5

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

Question 6

A 5-month-old child presented to the dermatology OPD with dryness along with white, fine scales on most parts of the body with sparing of face. The child was born at 39 weeks gestation by spontaneous vaginal delivery outside the hospital. On examination, fine, white scales were observed predominantly on the extensor surfaces of the limbs along with characteristic hyperlinearity of palms and accentuation of skin markings. Which of the following genes is most likely defective in the above condition:

Accepted Answer

Filaggrin

Answer

Desmoglein

Answer

Plakophilin

Answer

Plakoglobin

Question 7

Earliest feature of Tuberous sclerosis is:

Accepted Answer

Ash leaf spot

Answer

Neurofibroma

Answer

Angiofibroma

Answer

Shagreen patch

Question 8

Acrodermatitis enteropathica is associated with deficiency of?

Accepted Answer

Zinc

Answer

Vitamin B12

Answer

Molybdenum

Answer

Free fatty acids

Question 9

Which of the following diseases of the skin is the most likely to be associated with partial anodontia?

Accepted Answer

hereditary ectodermal dysplasia

Answer

erythema multiforme

Answer

lichen planus

Answer

keratosis follicularis

Question 10

Baby born with membrane around him at the time of birth. Which of the following conditions is depicted?

Accepted Answer

Lamellar ichthyosis (collodion membrane at birth)

Answer

X-linked ichthyosis (steroid sulfatase deficiency)

Answer

Generalized hyperkeratosis (thickened skin)

Answer

Ichthyosis vulgaris (dry, scaly skin)

Pediatric Dermatology — MCQs

Pediatric Dermatology — MCQs

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