Netherton syndrome; trichorrhexis invaginata; bamboo hair

Epidemiology

• rare
• presents in 1st 6 weeks of life
• occurs mostly in females

Pathology

• chronic skin inflammation
• congenital ichthyosis
• hair shaft abnormalities (bamboo hair)
• anomalies of the immune system

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Genetics

• autosomal recessive
• mutations in the SPINK5 gene (5q31-32)

Clinical manifestations

• congenital ichthyosiform erythroderma
• trichorrhexis invaginata or trichorrhexis nodosa (bamboo hair)
• atopic dermatitis, pruritus
• some infants develop progressive hypernatremic dehydration, failure to thrive, & enteropathy
• scaling & exfoliation
• variability in symptoms

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Laboratory

• serum sodium: hypernatremia

Complications

• high postnatal mortality due to infections (sepsis) & dehydration

Differential diagnosis

• erythrodermic psoriasis
• nonbullous congenital ichthyosiform erythroderma
• other infantile erythrodermas.

Management

• symptomatic treatment
  • emollients
    • keratolytic agents
    • antibiotics
    • topical glucocorticoids
    • topical tacrolimus or pecrolimus may result in toxicity in children
• prognosis:
  • some patients have survived into adulthood, others have died as infants
• treatment in general not effective
• management consists to treatment of symptoms & complications

More general terms

• genetic disease of the skin (genodermatosis)
• genetic syndrome (multisystem disorder)

Additional terms

• serine protease inhibitor Kazal-type 5; lympho-epithelial Kazal-type-related inhibitor; LEKTI; contains: hemofiltrate peptide HF6478; hemofiltrate peptide HF7665 (SPINK5)

Database

• OMIM: https://mirror.omim.org/entry/256500