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11 Cards in this Set

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Clinical Netherton Syndrome/ Ichthyosis linearis circumflexa
Inheritance
Autosomal recessive; SPINK5 gene on 5q32
Prenatal Diagnosis
DNA mutation analysis if defect known in family
Incidence
Rare with a few dozen case reports; M=F; observed M:F=1:2
Age at Presentation
Birth to first few months of life
Pathogenesis
Mutations in SPINK5 gene encoding LEKTI, a serine protease inhibitor that may be
important in clownregulating inflammatory pathways; LEKTI also associated with atopy
Clinical
Skin

Birth Few Months
Generalized erythema and scaling with secondary hypernatremia, failure to Thrive

Later in Infancy
Migratory erythematous, polycyclic, serpiginous plaques with double edged scale along the margins (ILC)
Atopic dermatitis with flexural lichenification and pruritus
Seborrheic like scale and erythema on face, scalp, eyebrows

Hair
Trichorrhexis invaginata (ball and socket configuration; bamboo hair) most characteristic; may also have pili torti or trichorrhexis noclosa; eyebrow hair may be most common site
Short, sparse

Immunology
Anaphylactic reactions to foods
D/Dx
Congenital ichthyosiform erythroderma (p. 12)
Seborrheic dermatitis
Dermatophytosis
Lab
Light microscope examination of hair shaft
Increased serum immunoglobulin E (IgE)
KOH
Management
Monitor in infancy for hypernatremia, and failure to thrive
Referral to dermatologist topical therapy, retinoids; avoid keratolytics (can worsen
condition) and tacrolimus ointment (increased absorption from compromised skin
barrier with increased risk of toxicities)
Referral to allergist radioallergosorbent assay test (RAST)
Prognosis
May have partial remissions and may improve at puberty; normal life span