Netherton syndrome is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, trichorrhexis invaginata, and atopic diathesis. Ichthyosis presents at birth with erythroderma and subsequently evolves into ichthyosis linearis circumflexa; hair shaft abnormalities tend to present later. The disorder is caused by loss-of-function mutations in the SPINK5 (serine protease ...

Ichthyosis linearis circumflexa (ILC) presents as serpiginous and migratory erythematous patches with double-edged scales. ILC is rarely an isolated skin manifestation, but most commonly a part of Netherton syndrome (NS). NS is caused by SPINK5 mutations, which lead to absent or sometimes reduced expression of the serine protease inhibitor LEKTI. NS is characterised by congenital ichthyosiform ...

Background: Netherton syndrome is a rare autosomal recessive disorder consisting of ichthyosiform dermatosis, hair shaft abnormalities and an atopic diathesis that presents as widespread erythematous skin. The aim of these reports is emphasis on the importance of the examination of hair as a diagnose route. Case presentation: Case 1: A 6 months old boy with respiratory distress and severe eryth...

Actas Dermosifiliogr. 2009;100:511-25 524 3. Whiting DA. Structural abnormalities of the hair shaft. J Am Acad Dermatol. 1987;16:1-25. 4. Itin PH, Mattarelli G, Bircher AJ, Zuberbühler E, Guggenheim R. Localized trichorrhexis nodosa. Br J Dermatol. 1992;127:656-7. 5. Smith RA, Ross JS, Bunker CB. Localized trichorrhexis nodosa. Clin Exp Dermatol. 1994;19:441-2. 6. Ghorpade A. Moustache twirler’...

Trichorrhexis nodosa is a condition in which individual hairs develop areas where the shaft has split longitudinally into numerous small fibres. The hairs eventually break at these points leaving brush-like ends. Usually trichorrhexis nodosa results from mechanical trauma or harsh chemical treatment (Chernosky and Owens, 1966), but two inherited disorders, argininosuccinic aciduria (Allan et al...

In 1958, Netherton described the bamboo-like deformity in the fragile hairs in a girl with erythematous scaly dermatitis.[2] In 1985, Greene and Muller emphasized the triad of Netherton syndrome: ichthyosis, atopy, and trichorrhexis invaginata.[3] In 2000, Chavanas et al. identified eleven different mutations in SPINK5 in 13 families with Netherton syndrome.[4] Their finding disclosed a critica...

Hair shaft disorders encompass a wide range of hair defects with or without fragility, which could be acquired inherited genetically. may localized generalized and are characterized by changes in color, structure, length, density. Pili torti, also called twisted hair, is clinical entity the flattened 180° along its axis. annulati described as striped showing alternate light dark bands. Trichorr...