Netherton’s syndrome: a case report
Keywords:
Netherton’s syndrome, ichthyosis linearis circumflexa, trichorrhexis invaginataAbstract
Netherton’s syndrome is a rare, autosomal recessive disorder of keratinization characterized by trichorrhexis invaginata, ichthyosis linearis circumflexa and atopic diathesis. There is also failure to thrive. Recently the genetic defect has been identified as a mutation in SPINK5 gene on chromosome 5q31-q32. A case of this rare disorder with classical presentation in a 16-year-old boy is reported here. He had had congenital erythroderma, failure to thrive, ichthyosis linearis circumflexa, trichorrhexis invaginata, epilepsy, spastic gait, and raised IgE levels. A brief review o the literature is presented as well.ÂReferences
Griffith WAD, Judge MR, Leigh IM. Disorders of keratinization. In: Champion RH, Burton JL, Burns DA, Breathnach SM, eds. Rook/Wilkinson/Ebling Textbook of dermatology, 6th edn. London: Blackwell Science; 1998. p. 1483-1588.
Ali M, Trichorrhexis invaginata (Netherton’s syndrome or bamboo hair). eMedicine. http:/www.emedicine.com/derm/topic431.htm (accessed on 14.02.2003).
Wilkinson RD, Curtis GH, Hawk WA. Netherton's disease: trichorhexis invaginata (bamboo hair), congenital ichthyosiform erythroderma and atopic diathesis; a histopatholgic study. Arch Dermatol 1964; 89:46-52.
Mevorah B, Frenk E, Brooke EM. Ichthyosis linearis circumflexa Comel. A clinico-statistical approach to its relationship with Netherton's syndrome. Dermatologica 1974; 149: 201-9.
Hurwitz S, Kirsch N, McGuire J. Reevaluation of ichthyosis and hair shaft abnormalities. Arch Dermatol 1971; 103: 266-71.
Pradeaux L, Olives JP, Bonafe JL et al. Digestive and nutritional manifestations of Netherton's syndrome. Arch Fr Pediatr 1991; 48: 95-8.
Hausser I, Anton-Lamprecht I. Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. Pediatr Dermatol 1996; 13: 183-99
Chavanas S, Garner C, Bodemer C et al. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 2000; 66: 914-21.
Kato A, Fukai K, Oiso N et al. Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population. Br J Dermatol 2003; 148: 665-9.
Hartschuh W, Hausser I, Petzoldt D. Successful retinoid therapy of Netherton syndrome. Hautarzt 1989; 40: 430-3
Wehr RF, Hickman J, Krochmal L. Effective treatment of Netherton's syndrome with 12% lactate lotion. J Am Acad Dermatol 1988; 19: 140-2.
Bens G, Boralevi F, Buzenet C, Taieb A. Topical treatment of Netherton's syndrome with tacrolimus ointment without significant systemic absorption. Br J Dermatol 2003; 149:224-6.
Allen A, Siegfried E, Silverman R et al. Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome. Arch Dermatol 2001; 137: 747-50
Nagata T. Netherton's syndrome which responded to photochemotherapy. Dermatologica 1980; 161: 51-6.
Lurie R, Garty BZ. Helical hairs: a new hair anomaly in a patient with Netherton's syndrome. Cutis 1995; 55: 349-52.
Calikoglu E, Anadolu R, Sanli H, Erdem C. A case of Netherton's syndrome with cerebral infarction. Turk J Pediatr 2001; 43: 247-9.
