Pediatric Dermatology Practice Questions

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: What is the most probable diagnosis of a child who presents with white umbilicated lesions on the face?

Molluscum contagiosum. ***Molluscum contagiosum*** - The description of **white, umbilicated lesions** is a classic presentation of **molluscum contagiosum**, a common viral skin infection in children. - These lesions are typically **dome-shaped papules** with a central depression, often appearing on the face, trunk, and extremities. *Herpes simplex infection* - Herpes simplex typically presents as **vesicles on an erythematous base** that can later crust over, which is different from the described umbilicated lesions. - It often causes **painful, recurrent outbreaks** and may be associated with systemic symptoms like fever. *Erythema toxicum neonatorum* - This is a benign rash seen in newborns, characterized by **blotchy red spots** with central papules or pustules, not white umbilicated lesions. - It usually appears within the first few days of life and resolves spontaneously. *Human papilloma virus infection* - HPV typically causes **warts**, which are rough, verrucous papules, rather than smooth, umbilicated lesions. - The appearance of warts can vary significantly but generally lacks the central umbilication seen in molluscum.

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: A child with fever presents with multiple tender erythematous skin lesions, and on microscopic examination, the skin lesions are found to have neutrophilic infiltration in the dermis. What is the diagnosis?

Sweet syndrome. ***Sweet syndrome*** - **Sweet syndrome**, also known as acute febrile neutrophilic dermatosis, presents with **fever**, **tender erythematous plaques**, and a characteristic histology of **dense neutrophilic infiltrate in the dermis** without vasculitis. - It is often triggered by **infection**, malignancy, or drugs and is more common in women, though it can occur in children. *Behçet's syndrome* - **Behçet's syndrome** is a multisystem vasculitis characterized by **recurrent oral and genital ulcers**, uveitis, and skin lesions such as erythema nodosum or papulopustular lesions, but not typically the specific neutrophilic dermatosis seen here. - The hallmark is **recurrent aphthous ulceration**, which is not mentioned in the patient's presentation. *Pyoderma gangrenosum* - **Pyoderma gangrenosum** presents as rapidly enlarging, **painful necrotic ulcers** with undermined purplish borders, often associated with inflammatory bowel disease or hematological disorders. - While it also involves neutrophilic infiltration, the clinical presentation of **tender erythematous plaques without ulceration** is not typical. *Leukemia cutis* - **Leukemia cutis** refers to infiltration of the skin by leukemic cells, which can present as papules, nodules, or plaques with **neutrophilic (myeloid) infiltration** on histology. - However, it typically occurs in patients with **known or occult hematologic malignancy**, and the lesions are usually **non-tender** and may have a violaceous hue, unlike the tender erythematous plaques of Sweet syndrome. - Sweet syndrome itself can be **paraneoplastic** and associated with myeloid malignancies, making the distinction important.

Question 1

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 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

What is the most probable diagnosis of a child who presents with white umbilicated lesions on the face?

Accepted Answer

Molluscum contagiosum

Answer

Herpes simplex infection

Answer

Erythema toxicum neonatorum

Answer

Human papilloma virus infection

Question 4

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 5

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 6

A child with fever presents with multiple tender erythematous skin lesions, and on microscopic examination, the skin lesions are found to have neutrophilic infiltration in the dermis. What is the diagnosis?

Accepted Answer

Sweet syndrome

Answer

Behcet's syndrome

Answer

Pyoderma gangrenosum

Answer

Leukemia cutis

Pediatric Dermatology — MCQs

Pediatric Dermatology — MCQs

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