Netherton syndrome: Report of identical twins presenting with severe atopic dermatitis

European Journal of Pediatrics

Volumn 165, Issue 9, 2006, Pages 594-597

  Kilic, Gurkan ^a,b   Guler, Nermin ^a   Ones, Ulker ^a   Tamay, Zeynep ^a   Guzel, Pinar ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b NONE   (Turkey)

Author keywords

Atopic dermatitis; Children; Netherton syndrome; Trichorrhexis invaginata

Indexed keywords

IMMUNOGLOBULIN E; PROTEIN; PROTEIN SPINK5; UNCLASSIFIED DRUG;

ARTICLE; ATOPIC DERMATITIS; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; FOOD ALLERGY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GROWTH RETARDATION; HUMAN; MONOZYGOTIC TWINS; MUTATIONAL ANALYSIS; NETHERTON DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN BIOPSY; SKIN MANIFESTATION; TRICHORRHEXIS;

BIOLOGICAL MARKERS; CARRIER PROTEINS; CHILD, PRESCHOOL; DERMATITIS, ATOPIC; DISEASES IN TWINS; EGG HYPERSENSITIVITY; FEMALE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; IMMUNOGLOBULIN E; MILK HYPERSENSITIVITY; MUTATION; PROTEINASE INHIBITORY PROTEINS, SECRETORY; PRURITUS; SEVERITY OF ILLNESS INDEX; SYNDROME; TWINS, MONOZYGOTIC;

EID: 33746548377     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-006-0141-0     Document Type: Article

References (27)

1. Allen A, Siegfried E, Silverman R, Williams ML, Elias PM, Szabo SK, Korman NJ (2001) Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome. Arch Dermatol 137:747-750
2. Blomquist HK, Back O, Fagerlund M, Holmgren G, Stecksen-Blicks C (1991) Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair. Acta Paediatr Scand 80:1241-1245
3. Braun-Falco O (2000) Disorders of keratinization. In: Braun-Falco O, Pleiwig G, Wolff HH, Burgdorf WHC (eds) Dermatology, 2nd edn. Springer, Italy, pp 709-750
4. Chao S-C, Richard G, Lee JY-Y (2005) Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5. Br J Dermatol 152:159-165
5. Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafe JL, Paradisi M, Kelsel DP, Ansai S, Mitsuhashi Y, Larregue M, Leigh IM, Harper JI, Taieb A, Prost Y, Cardon LR, Hovnanian A (2000) Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 66:914-921
6. Comel M (1949) Ichtiosis linearis circumflexa. Dermatologica 98:133-136
7. El Shabrawi-Caelen L, Smolle J, Metze D, Ginter-Hanselmayer G, Raghunath M, Traupe H, Kerl H (2004) Generalized exfoliative erythroderma since birth. Arch Dermatol 140:1275-1280
8. Fartasch M, Williams ML, Elias PM (1999) Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications. Arch Dermatol 135:823-832
9. Foulc P, Jumbou O, David A, Sarasin A, Stalder JF (1999) Trichothiodystrophy: progressive manifestations. Ann Dermatol Venerol 126:703-707
10. Godic A, Dragos V (2004) Successful treatment of Netherton's syndrome with topical calcipotriol. Eur J Dermatol 14:115-117
11. Grimbacher B, Holland SM, Galin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM (1999) Hyper-IgE syndrome with recurrent infections - an autosomal dominant multisystem disorder. N Engl J Med 340:692-702
12. Hoeger PH, Harper JI (1998) Neonatal erythroderma: differential diagnosis and management of the "red baby". Arch Dis Child 79:186-191
13. Kabesch M, Carr D, Weiland SK, von Mutius E (2004) Association between polymorphisms in serine protease inhibitor, Kazal type 5 and asthma phenotypes in a large German population sample. Clin Exp Allergy 34:340-345
14. Katchourine I, Pradalier A (1998) Rare hyperimmunoglobulinemia E syndromes. Rev Med Interna 19:185-191
15. Kato A, Fukai K, Oiso N, Hosomi N, Murakami T, Ishii M (2003) Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population. Br J Dermatol 148:665-669
16. Moffat MF (2004) SPINK5: a gene for atopic dermatitis and asthma. Clin Exp Allergy 34:325-327
17. Netherton EW (1958) A unique case of trichorrhexis nodosa: bamboo hairs. Arch Dermatol 78:483-487
18. Pruszkowski A, Bodemer C, Fraitag S, Teillac-Hamel D, Amoric JC, de Prost Y (2000) Neonatal and infantile erythrodermas. Arch Dermatol 136:875-880
19. Richard G, Ringpfeil F (2003) Ichthyosis, erythrokeratodermas and related disorders. In: Bolognia JL, Jorizzo JL, Rapini RP (eds) Dermatology, 2nd edn. Mosby, Spain, pp 791-793
20. Rihs HP, Kowal A, Raulf-Heimsoth M, Degens PO, Landt O, Bruning T (2005) Rapid detection of the SPINK5 polymorphism Glu420Lys by real-time PCR technology. Clin Chim Acta 355:185-189
21. Shwayder T, Banerjee S (1997) Netherton syndrome presenting as congenital psoriasis. Pediatr Dermatol 14:473-476
22. Smith DL, Smith G, Song WW, Deshazo RD (1995) Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immunol 95:116-123
23. Sprecher E, Tesfaye-Kedjela A, Ratajczak P, Bergman R, Richard G (2004) Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. Clin Exp Dermatol 29:513-517
24. Stoll C, Alembik Y, Tchomakov D, Messer J, Heid E, Boehm N, Calvas P, Hovnanian A (2001) Severe hypernatremic dehydration in an infant with Netherton syndrome. Genet Couns 12:237-243
25. Van Gysel D, Koning H, Baert MRM, Savelkoul HF, Neijens HJ, Oranje AP (2001) Clinico-immunological heterogeneity in Comel-Netherton syndrome. Dermatology 202:99-107
26. Walley AJ, Chavanas S, Moffat M, Esnouf RM, Ubhi B, Lawrence R, Wong K, Abecasis GR, Jones EY, Harper JI, Hovnanian A, Cookson WO (2001) Gene polymorphisms in Netherton and common atopic disease. Nat Genet 29:175-178
27. Yerebakan O, Uguz A, Keser I, Luleci G, Citcioglu MA, Basaran E, Alpsoy E (2002) Netherton syndrome associated with idiopathic congenital hemihypertrophy. Pediatr Dermatol 19:345-348