TOACS FCPS Station · Hard Scaly Scalp in Netherton Syndrome

📷 Clinical Photograph – Netherton Syndrome (Scalp)

Clinical photograph showing severe scaling and erythema of the scalp with sparse, brittle hair in a child with Netherton syndrome

Figure 1 · Netherton Syndrome · SPINK5 mutation

🔍 Key clinical features:

✓ Severe scalp scaling and erythema – often congenital
✓ Sparse, brittle hair – trichorrhexis invaginata (bamboo hair)
✓ Ichthyosis linearis circumflexa – migratory serpiginous plaques
✓ Atopic diathesis – eczema, elevated IgE
✓ Failure to thrive – due to skin barrier dysfunction

📋 Clinical scenario (examiner prompt)

A 3‑year‑old child is brought to the dermatology clinic with severe scaling of the scalp and sparse, brittle hair. The mother reports that the child has had scaly skin since birth, with migratory, ring‑shaped lesions on the trunk. The child has severe eczema and frequent infections. On examination, the scalp has thick, adherent scales with erythema and alopecia. The hair is short, broken, and lusterless. The child is failing to thrive and has elevated IgE.

Severe scalp scaling, alopecia Brittle, sparse hair (bamboo hair) Migratory ring-shaped lesions Elevated IgE, atopic diathesis

🧑‍⚕️ Examiner tasks · TOACS

1. Identify the diagnosis from the clinical image and context.

2. Describe the clinical features (scalp scaling, bamboo hair, ichthyosis linearis circumflexa, atopy).

3. Explain the underlying condition (Netherton syndrome, SPINK5, serine protease inhibitor).

4. Discuss diagnosis and management (emollients, topical steroids, antihistamines, avoid tacrolimus).

⚠️ Key concept: Netherton syndrome is a rare autosomal recessive disorder caused by SPINK5 mutations, leading to defective serine protease inhibitor function. It presents with the triad of ichthyosis linearis circumflexa (migratory serpiginous plaques with double‑edged scale), trichorrhexis invaginata (bamboo hair), and atopic diathesis (severe eczema, elevated IgE, food allergies). Scalp involvement is common with severe scaling and alopecia. Management is supportive: emollients, topical steroids (cautiously), antihistamines, and treat infections. Topical calcineurin inhibitors (tacrolimus, pimecrolimus) should be avoided due to systemic absorption risk.

🎯 Expected answers (for examiners)

• Diagnosis: Netherton syndrome
• Clinical features: Scalp: thick scaling, erythema, alopecia; hair: trichorrhexis invaginata (bamboo hair) – brittle, broken, lusterless; skin: ichthyosis linearis circumflexa (migratory serpiginous plaques with double-edged scale); severe atopic dermatitis, elevated IgE, food allergies, failure to thrive, recurrent infections
• Genetics: SPINK5 gene (serine protease inhibitor Kazal type 5); autosomal recessive; loss of function leads to unopposed protease activity, skin barrier dysfunction
• Diagnosis: Clinical; hair microscopy (bamboo hair); genetic testing (SPINK5); elevated IgE, eosinophilia; skin biopsy (epidermal hyperplasia, parakeratosis)
• Management: Emollients; topical steroids (potent but cautiously due to systemic absorption); antihistamines for pruritus; treat infections; avoid tacrolimus/pimecrolimus (systemic absorption risk); nutritional support; treat secondary infections; multidisciplinary approach

📌 Netherton syndrome – key points:
• Gene: SPINK5 (serine protease inhibitor)
• Triad: Ichthyosis linearis circumflexa + bamboo hair + atopy
• Scalp: Severe scaling, alopecia, brittle hair
• Management: Emollients, topical steroids, antihistamines
• Avoid: Topical calcineurin inhibitors (tacrolimus/pimecrolimus)
• Prognosis: Variable; may improve with age

⚡ Quick FCPS‑style MCQ

A child with severe scalp scaling, sparse brittle hair (bamboo hair), migratory ring-shaped lesions, and elevated IgE. The most likely diagnosis is:

A. Seborrheic dermatitis B. Netherton syndrome C. Atopic dermatitis D. Tinea capitis

📌 Topic summary · Netherton Syndrome (Scalp Involvement)

Definition
AR ichthyosis – SPINK5

Triad
Ichthyosis linearis circumflexa + bamboo hair + atopy

Scalp
Severe scaling, alopecia

Hair
Trichorrhexis invaginata

Treatment
Emollients, topical steroids, antihistamines

Avoid
Tacrolimus/pimecrolimus

Feature	Netherton Syndrome
Gene	SPINK5 (serine protease inhibitor Kazal type 5)
Inheritance	Autosomal recessive
Clinical triad	Ichthyosis linearis circumflexa (migratory serpiginous plaques with double-edged scale), trichorrhexis invaginata (bamboo hair), atopic diathesis (severe eczema, elevated IgE, food allergies)
Scalp findings	Thick adherent scales, erythema, alopecia, brittle hair
Hair microscopy	Trichorrhexis invaginata – "ball and socket" (bamboo hair)
Other features	Failure to thrive, recurrent infections, dehydration, hypernatremia, hypoalbuminemia
Treatment – Skin	Emollients; topical steroids (potent but cautiously); avoid topical calcineurin inhibitors (tacrolimus/pimecrolimus) – systemic absorption
Treatment – Pruritus	Antihistamines (cetirizine, hydroxyzine)
Treatment – Infections	Prompt treatment of secondary bacterial/fungal infections; antibiotics/antifungals as needed
Prognosis	Variable; may improve with age; early mortality in severe cases due to infections, hypernatremia, failure to thrive

🧴 TOACS FCPS Station · Hard Scaly Scalp in Netherton Syndrome

📷 Clinical Photograph – Netherton Syndrome (Scalp)

🧑‍⚕️ Examiner tasks · TOACS

📌 Topic summary · Netherton Syndrome (Scalp Involvement)