19-Year-Old Woman with Short, Spiky, Brittle Hair

Abstract

Netherton syndrome is a rare autosomal recessive genodermatosis, characterized by a triad of congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa, hair shaft abnormalities, and atopic diathesis (elevated serum IgE). The condition affects 1 per 200,000 newborns. Netherton syndrome is caused by loss-of-function mutations in the serine protease inhibitor (SPINK5) on chromosome 5q32 which encodes for the serine protease inhibitor LEKTI. Congenital ichthyosiform erythroderma is the generalized erythroderma and desquamation present at birth. It evolves into a migratory, erythematous, serpiginous, patches with double-edged scales at the periphery. This ichthyosis linearis circumflexa waxes and wanes throughout the patient’s life and is associated with pruritus. Concomitant atopic diathesis contributes to many food allergies, severe enteropathy, eosinophilic oesophagitis, eosinophilic colitis leading to diarrhea, growth retardation, failure to thrive, mental retardation, and hypoalbuminemia. Allergic rhinitis, asthma, urticaria and angioedema may occur. IgE levels are significantly elevated and hypereosinophilia is presented. In patients with Netherton, hair are sparse, short, dry, and brittle. Trichoscopy reveals trichorrhexis invaginata (“bamboo hair”), seen as nodules along hair shaft in low-magnification and invagination of distal part into proximal part of hair shaft (resembling ball in cup) in high-magnification. There is no satisfactory treatment currently available for Netherton syndrome. Topical corticosteroids, topical calcineurin inhibitors, topical retinoids, narrowband ultraviolet B phototherapy, psoralen and ultraviolet irradiation, and oral acitretin are therapeutic options. In severe cases, intravenous immunoglobulin and anti-TNF may be helpful.KeywordsAtopicErythrodermaHairTrichorrhexis invaginateTrichoscopyScalp