Pediatric Dermatology Practice Questions

Q: Where does nevus simplex commonly present?

Face. ***Face*** - Nevus simplex, also known as a **stork bite**, **angel's kiss**, or **salmon patch**, commonly presents on the face, particularly on the eyelids, glabella, and nuchal area. - These are **capillary malformations** that are present at birth and often fade within the first few years of life. *Trunk* - While other birthmarks can appear on the trunk, nevus simplex has a very strong predilection for the **head and neck region**. - Vascular lesions on the trunk are more likely to be other types, such as infantile hemangiomas, which have a different clinical course. *Legs* - Nevus simplex is **rarely found on the legs**. - Birthmarks on the legs would more typically suggest a different etiology or pattern of vascular malformation. *Hands* - Nevus simplex is **uncommon on the hands**. - Other types of vascular lesions or dermatological conditions might affect the hands but not typically a nevus simplex.

Q: A child is born with a shiny, tight film covering the skin. What could be the possible diagnosis?

Lamellar ichthyosis. ***Lamellar ichthyosis*** - This condition is characterized by a **collodion membrane** at birth, which is a shiny, tight, and translucent film covering the entire skin surface. - The collodion membrane typically sheds within the first few weeks of life, revealing **generalized scaling** and **erythema** beneath. *X-linked ichthyosis* - This type of ichthyosis is characterized by **large, dark, adherent scales**, especially on the neck, trunk, and extensor surfaces. - It is caused by a deficiency of the enzyme **steroid sulfatase** and does not typically present as a collodion baby. *Ichthyosis vulgaris* - This condition usually presents in early childhood with **fine, whitish scales** predominantly on the extensor surfaces of the limbs, sparing the flexures. - It does not present as a collodion baby and is often associated with **atopy**. *Ichthyosis acquisita* - This refers to ichthyosis that develops later in life due to an underlying systemic disease such as **lymphoma**, AIDS, or certain medications. - It is not a congenital condition and therefore does not present at birth with a collodion membrane.

Q: What condition is suggested by eyelid papules and a hoarse cry in a child?

Lipoid proteinosis. ***Lipoid proteinosis*** - This condition is characterized by **hoarseness from infancy** due to deposition in the vocal cords and characteristic **beaded papules on the eyelids** (moniliform blepharosis). - Also known as **Urbach-Wiethe disease**, it is a rare autosomal recessive disorder resulting from mutations in the **ECM1 gene**, leading to abnormal deposition of hyaline material in various tissues. *Croup* - Croup typically presents with a **barking cough** and **stridor**, often following a viral upper respiratory infection. - It does not cause eyelid papules or chronic hoarseness from infancy, but rather acute respiratory distress. *Acrodermatitis enteropathica* - This is a rare autosomal recessive disorder of **zinc malabsorption**, leading to a classic triad of **dermatitis**, **diarrhea**, and **alopecia**. - It does not involve eyelid papules or hoarseness as primary features. *Congenital syphilis* - Congenital syphilis can cause a wide range of manifestations, including skin rashes, bone abnormalities, and rhinitis ("snuffles"), but eyelid papules and chronic hoarseness are not typical presenting features. - Diagnosis is usually confirmed by serological tests for syphilis.

Q: Acrodermatitis enteropathica is associated with a deficiency of which of the following?

Zinc. ***Zinc*** - Acrodermatitis enteropathica is a rare, inherited metabolic disorder characterized by a **deficiency in zinc absorption** or utilization. - Clinical manifestations include a characteristic **periorificial and acral dermatitis**, alopecia, and diarrhea, all of which respond dramatically to zinc supplementation. *Manganese* - Manganese is a trace element essential for various enzyme functions, but its deficiency does not cause acrodermatitis enteropathica. - Deficiency symptoms include impaired growth, skeletal abnormalities, and reproductive problems. *Copper* - Copper deficiency can lead to anemia, neutropenia, and neurological problems, but it is not associated with acrodermatitis enteropathica. - Conditions like Menkes disease involve problems with copper transport and metabolism. *Selenium* - Selenium deficiency can contribute to Keshan disease (cardiomyopathy) and impaired immune function. - It is not directly linked to the dermatological and gastrointestinal symptoms seen in acrodermatitis enteropathica.

Q: Eleven-month-old child presents with an erythematous lesion that has been decreasing in size. What is the most likely diagnosis?

Strawberry hemangioma (Infantile hemangioma). ***Strawberry hemangioma (Infantile hemangioma)*** - **Infantile hemangiomas** (also known as strawberry hemangiomas) are common benign vascular tumors of infancy that typically **proliferate rapidly** in the first few months of life and then undergo **spontaneous involution** (decreasing in size) over several years. - The child's age (11 months) and the description of an **erythematous lesion decreasing in size** are highly consistent with the natural history of an infantile hemangioma in its involution phase. - Most infantile hemangiomas begin involution after 12 months and continue to regress over 5-7 years. *Melanocytic nevus* - A **melanocytic nevus** (mole) is a benign proliferation of **melanocytes** and typically presents as a brown or black lesion. - These lesions tend to be stable in size or grow slowly and **do not spontaneously decrease in size**. *Port wine stain (Nevus flammeus)* - A **port wine stain** is a capillary malformation that appears as a **flat, pink, red, or purple patch** from birth. - Unlike hemangiomas, port wine stains are **permanent vascular malformations** and do not involute; in fact, they may darken and thicken over time. *Cavernous hemangioma* - **Cavernous hemangiomas** represent deeper infantile hemangiomas with **subcutaneous involvement**, appearing as deeper, bluish, or skin-colored masses. - While they also undergo involution like superficial strawberry hemangiomas, they present differently as **deeper lesions** rather than the bright erythematous superficial appearance described in this case. - The primarily **erythematous** presentation in this case is more characteristic of a superficial (strawberry) hemangioma.

Q: What is the minimum number of café au lait macules required as one of the diagnostic criteria for Neurofibromatosis type 1 (NF1)?

6. ***6*** - According to the National Institutes of Health (NIH) diagnostic criteria for **Neurofibromatosis type 1 (NF1)**, individuals must have **six or more café au lait macules** greater than 5 mm in greatest diameter in prepubertal individuals and greater than 15 mm in postpubertal individuals. - The presence of six or more café au lait macules is a key diagnostic feature, especially when combined with other criteria such as **neurofibromas, optic pathway gliomas, or Lisch nodules**. *1* - A single **café au lait macule** is a common finding in the general population and does not meet the diagnostic threshold for **neurofibromatosis**. - While one might be present in an individual with NF1, it is insufficient on its own to fulfill this specific diagnostic criterion. *2* - While a higher number than one, two café au lait macules still falls short of the **established diagnostic criteria** for neurofibromatosis. - The diagnostic criteria are set to increase the specificity of diagnosis for complex genetic disorders like **NF1**. *4* - Four café au lait macules are more than commonly seen in the general population but still do not reach the **minimum threshold of six** required for the diagnostic criterion of neurofibromatosis. - The number six is specifically chosen to differentiate between benign skin findings and characteristic features of **NF1**.

Q: Which skin lesion is associated with Sturge-Weber syndrome?

Port-wine stain. ***Port-wine stain*** - A **port-wine stain (nevus flammeus)**, especially when located on the face following the trigeminal nerve distribution, is the characteristic skin lesion of **Sturge-Weber syndrome**. - Sturge-Weber syndrome is a **neurocutaneous disorder** associated with neurological abnormalities like seizures, glaucoma, and leptomeningeal angioma. *Salmon patch* - A **salmon patch (nevus simplex)** is a common, benign vascular lesion typically found on the eyelids, glabella, or nape of the neck. - Unlike a port-wine stain, a salmon patch usually **fades within the first year of life** and is not associated with Sturge-Weber syndrome. *Strawberry nevus* - A **strawberry nevus (infantile hemangioma)** is a common benign vascular tumor that typically appears a few weeks after birth, grows rapidly, and then usually regresses spontaneously by age 5-10. - It is a **raised, bright red lesion** that is distinct from the flat, diffuse appearance of a port-wine stain and not directly linked to Sturge-Weber syndrome. *Mongolian spot* - A **Mongolian spot (dermal melanocytosis)** is a benign, flat, bluish-gray pigmented lesion commonly found on the lower back or buttocks of infants, particularly those with darker skin tones. - It results from **melanocytes trapped in the dermis** and typically fades during childhood, having no association with Sturge-Weber syndrome.

Question 1

Where does nevus simplex commonly present?

Accepted Answer

Face

Answer

Trunk

Answer

Legs

Answer

Hands

Question 2

All of the following are true about incontinentia pigmenti, except which of the following?

Accepted Answer

Ocular involvement is seen in almost 100% cases and is typically unilateral

Answer

Avascularity of peripheral retina

Answer

Primary skin abnormality

Answer

X-linked dominant

Question 3

A child is born with a shiny, tight film covering the skin. What could be the possible diagnosis?

Accepted Answer

Lamellar ichthyosis

Answer

X-linked ichthyosis

Answer

Ichthyosis vulgaris

Answer

Ichthyosis acquisita

Question 4

What condition is suggested by eyelid papules and a hoarse cry in a child?

Accepted Answer

Lipoid proteinosis

Answer

Croup

Answer

Acrodermatitis enteropathica

Answer

Congenital syphilis

Question 5

Acrodermatitis enteropathica is associated with a deficiency of which of the following?

Accepted Answer

Zinc

Answer

Manganese

Answer

Copper

Answer

Selenium

Question 6

Eleven-month-old child presents with an erythematous lesion that has been decreasing in size. What is the most likely diagnosis?

Accepted Answer

Strawberry hemangioma (Infantile hemangioma)

Answer

Melanocytic nevus

Answer

Port wine stain (Nevus flammeus)

Answer

Cavernous hemangioma

Question 7

What is the minimum number of café au lait macules required as one of the diagnostic criteria for Neurofibromatosis type 1 (NF1)?

Accepted Answer

6

Answer

1

Answer

2

Answer

4

Question 8

Which skin lesion is associated with Sturge-Weber syndrome?

Accepted Answer

Port-wine stain

Answer

Strawberry nevus

Answer

Mongolian spot

Answer

Salmon patch

Pediatric Dermatology — MCQs

Pediatric Dermatology — MCQs

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