Syndromic (phenotypic) diarrhea in early infancy

Orphanet Journal of Rare Diseases

Volumn 3, Issue 1, 2008, Pages

  Goulet, Olivier ^a   Vinson, Christine ^a   Roquelaure, Bertrand ^b   Brousse, Nicole ^c   Bodemer, Christine ^a   Cézard, Jean Pierre ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b TIMONE HOSPITAL   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AGE; GENETICS; HUMAN; INFANT; INFANTILE DIARRHEA; PATHOLOGY; PHENOTYPE; REVIEW; SYNDROME;

AGE FACTORS; DIARRHEA, INFANTILE; HUMANS; INFANT; PHENOTYPE; SYNDROME;

EID: 41649106443     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-3-6     Document Type: Article

References (31)

1. Irreversible intestinal failure. O Goulet F Ruemmele F Lacaille V Colomb, J Pediatr Gastroenterol Nutr 2004 38 250 269 10.1097/00005176-200403000-00006 15076623
2. Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: A clinicopatological survey of 47 cases. OJ Goulet N Brousse D Canioni JA Walker-Smith J Schmitz AD Phillips, J Pediatr Gastroenterol Nutr 1998 26 151 161 10.1097/00005176-199802000-00006 9481629
3. Etiology and risk factors of severe and protracted diarrhea. A Guarino MI Spagnuolo S Russo F Albano S Guandalini G Capano S Cucchiara P Vairano R Liguori A Casola, J Pediatr Gastroenterol Nutr 1995 20 173 178 7714682
4. Severe and protracted diarrhea: results of the 3-year SIGEP multicenter survey. C Catassi E Fabiani MI Spagnuolo G Barera A Guarino, J Pediatr Gastroenterol Nutr 1999 29 63 68 10.1097/00005176-199907000-00016 10400106
5. Familial microvillous atrophy: A clinicopathological survey of 23 cases. A Philips J Schmitz, J Pediatr Gastroenterol Nutr 1992 14 380 396 1355534
6. Intractable diarrhea of infancy: a new entity with epithelial and basement membrane abnormalities. O Goulet M Kedinger N Brousse B Cuenod V Colomb N Patey S de Potter JF Mougenot D Canioni N Cerf-Bensussan, J Pediatr 1995 127 212 219 10.1016/S0022-3476(95)70297-0 7636644
7. Microvillous inclusion disease (microvillous atrophy). FM Ruemmele J Schmitz O Goulet, Orphanet J Rare Dis 1 22 2006 Jun 26; 16800870 10.1186/1750-1172-1-22
8. Intestinal epithelial dysplasia (tufting enteropathy). O Goulet J Salomon F Ruemmele NP de Serres N Brousse, Orphanet J Rare Dis 2 20 2007 Apr 20 17448233 10.1186/1750-1172-2-20
9. Intractable diarrhea syndrome associated with phenotypic abnormalities and immune deficiency. D Girault O Goulet F Le Deist N Brousse V Colomb JP Cesarini S de Potter D Canioni C Griscelli A Fischer, J Pediatr 1994 125 36 42 10.1016/S0022-3476(94)70118-0 8021782
10. Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. L Stankler D Lloyd RJ Pollitt ES Gray H Thom G Russell, Arch Dis Child 1982 57 212 216 7073301
11. Tricho-hepato-enteric syndrome : further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. A Verloes J Lombet Y Lambert AF Hubert M Deprez V Fridman S Gosseye J Rigo E Sokal, Am J Med Gen 68 4 391 395 10.1002/(SICI)1096-8628(19970211)68: 4<391::AID-AJMG33.0.CO;2-P 9021008
12. Oligoclonal gammopathy in "phenotypic diarrhea". E de Vries DM Visser JJ van Dongen CJ Jacobs JH Hoekstra MJ van Tol, J Pediatr Gastroenterol Nutr 1999 30 3 349 351 10749428
13. "Syndromic diarrhea" may have better outcome than previously reported. AV Barabino F Torrente E Castellano D Erba A Calvi P Gandullia, J Pediatr 144 553 554 15069414
14. Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis. MC Landers TL Schroeder, Pediatr Dermato 2003 20 5 432 435 10.1046/j.1525-1470.2003.20514.x 14521564
15. Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: Two names for the same disorder. A Fabre N Andre A Breton P Broue C Badens B Roquelaure, Am J Med Genet A 2007 143 584 588 17318842
16. Trichothiodystrophy : review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasia. PH Itin MR Pittelkow, J Am Acad Dermatol 1990 22 705 717 2189905
17. The tay syndrome (congenital ichthyosis with trichothiodystrophy). R Happle H Traupe H Grôbe G Bonsmann, Eur J Pediatr 1984 141 147 152 10.1007/BF00443212 6538137
18. A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. M Stefanini W Vermeulen G Weeda S Giliani T Nardo M Mezzina A Sarasin JI Harper CF Arlett JH Hoeijmakers, Am J Hum Genet 1993 53 817 821 8213812
19. Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy. E Mariani A Facchini MC Honorati E Lalli E Berardesca P Ghetti S Marinoni F Nuzzo GC Astaldi Ricotti M Stefanini, Clin Exp Immunol 1992 88 376 382 1535035
20. Hair shaft defect. D Whiting, Disorders of hair growth: diagnosis and treatment New York:McGraw-Hill, Olsen EA, 1994 91 137
21. Scanning electron microscopy of normal and abnormal hair shafts. RPR Dawber S Comaish, Arch Dermatol 1970 101 316 322 10.1001/archderm.101.3.316 4905842
22. Trichorrhesis nosoda:clinical and investigative studies. ME Chernosky DW Owens, Arch Dermatol 1966 94 577 585 10.1001/archderm.94.5.577 5960360
23. Trichorrhesis nodosa-an error of amino acid metabolism? EW Rauschkolb ME Chernosky JM Knox DW Owens, J Invest Dermatol 1967 48 260 3 6020690
24. Severe neonatal citrullinemia. DM Danks P Tippet G Zentner, Arch Dis Child 1974 49 579 581 4854268
25. Pili torti in association with citrullinia. HP Patel ME Unis, J Am Acad Dermatol 1986 12 1 203 206 3973120
26. Kinky hair disease. JH Menkes, Pediatrics 1972 50 181 183 5045346
27. A unique case of trichorrhesis nodosa "bamboo hairs". EW Netherton, Arch Dermatol 1958 78 4 483 487 13582191
28. What syndrome is this? Netherton syndrome. BR Krafchik, Pediatr Dermatol 1992 9 2 157 160 10.1111/j.1525-1470.1992.tb01231.x 1534889
29. A comparison of the proteins of normal and trichothidystrophic human hair. JM Gillespie RC Marshall, J Invest Dermatol 1983 80 195 202 10.1111/1523-1747.ep12534032 6827130
30. The molecular basis of intractable diarrhoea of infancy. SH Murch, Baillieres Clin Gastroenterol 1997 11 413 440 10.1016/S0950-3528(97)90025-7 9448909
31. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. M Raghunath L Tontsidou V Oji K Aufenvenne F Schürmeyer-Horst A Jayakumar H Ständer J Smolle GL Clayman H Traupe, J Invest Dermatol 2004 123 474 83 10.1111/j.0022-202X.2004. 23220.x 15304086