Literature DB >> 7073301

Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.

L Stankler, D Lloyd, R J Pollitt, E S Gray, H Thom, G Russell.   

Abstract

A family is described in which 2 siblings born to healthy parents presented with abnormal facies, persistent diarrhoea, and early death. Exhaustive pathological and biochemical investigations failed to find a cause. The scalp hair of both babies had an abnormal amino-acid composition, and presented an appearance that was unique on scanning electron microscopical examination; this fact and the clinical picture probably represents a new syndrome.

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Year:  1982        PMID： 7073301      PMCID： PMC1627586          DOI： 10.1136/adc.57.3.212

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  10 in total

1.  A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

Authors:  J D ALLAN; D C CUSWORTH; C E DENT; V K WILSON
Journal:  Lancet       Date:  1958-01-25       Impact factor: 79.321

2.  A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.

Authors:  J H MENKES; M ALTER; G K STEIGLEDER; D R WEAKLEY; J H SUNG
Journal:  Pediatrics       Date:  1962-05       Impact factor: 7.124

3.  The physicochemical properties of hair in the BIDS syndrome.

Authors:  H P Baden; C E Jackson; L Weiss; K Jimbow; L Lee; J Kubilus; R J Gold
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

4.  Neonatal hair as a record of intra-uterine nutrition.

Authors:  J D Baum; E A Hughes; D A Harris
Journal:  Biol Neonate       Date:  1974

5.  Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder.

Authors:  C H Tay
Journal:  Arch Dermatol       Date:  1971-07

6.  Proteins of normal hair and of cystine-deficient hair from mentally retarded siblings.

Authors:  R J Pollitt; P D Stonier
Journal:  Biochem J       Date:  1971-05       Impact factor: 3.857

7.  Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.

Authors:  R J Pollitt; F A Jenner; M Davies
Journal:  Arch Dis Child       Date:  1968-04       Impact factor: 3.791

8.  A congenital hair defect: trichoschisis with alternating birefringence and low sulfur content.

Authors:  A C Brown; R B Belser; R G Crounse; R F Wehr
Journal:  J Invest Dermatol       Date:  1970-06       Impact factor: 8.551

9.  Congenital hair defects.

Authors:  A C Brown
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06

10.  Diameter and amino acid changes in hair of Negro children with protein-calorie malnutrition.

Authors:  D R Hartman; W Fougere; K W King
Journal:  Proc Soc Exp Biol Med       Date:  1966-11
  10 in total
  18 in total

Review 1.  Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

Authors:  Alexandre Fabre; Patrice Bourgeois; Marie-Edith Coste; Céline Roman; Vincent Barlogis; Catherine Badens
Journal:  Intractable Rare Dis Res       Date:  2017-08

2.  Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.

Authors:  Laine M Hosking; Elizabeth G Bannister; Matthew C Cook; Sharon Choo; Smitha Kumble; Theresa S Cole
Journal:  J Clin Immunol       Date:  2017-11-10       Impact factor: 8.317

Review 3.  Protracted diarrhea in infancy.

Authors:  B K Sandhu; P J Milla
Journal:  Indian J Pediatr       Date:  1984 Jan-Feb       Impact factor: 1.967

4.  Trichohepatoenteric syndrome: founder mutation in asian indians.

Authors:  U H Kotecha; S Movva; R D Puri; I C Verma
Journal:  Mol Syndromol       Date:  2012-07-05

5.  Chronic diarrhea and skin hyperpigmentation: a new association.

Authors:  Khaled Al Qoaer; Ali Al Mehaidib; Sohail Shabib; Mohammed Banemai
Journal:  Saudi J Gastroenterol       Date:  2008-10       Impact factor: 2.485

6.  Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.

Authors:  Nicholas L Rider; Bertrand Boisson; Soma Jyonouchi; Eric P Hanson; Sergio D Rosenzweig; Jean-Laurent Cassanova; Jordan S Orange
Journal:  Front Pediatr       Date:  2015-01-30       Impact factor: 3.418

7.  Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

Authors:  Jane Louise Hartley; Nicholas C Zachos; Ban Dawood; Mark Donowitz; Julia Forman; Rodney J Pollitt; Neil V Morgan; Louise Tee; Paul Gissen; Walter H A Kahr; Alex S Knisely; Steve Watson; David Chitayat; Ian W Booth; Sue Protheroe; Stephen Murphy; Esther de Vries; Deirdre A Kelly; Eamonn R Maher
Journal:  Gastroenterology       Date:  2010-02-20       Impact factor: 22.682

Review 8.  Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Authors:  Alexandre Fabre; Christine Martinez-Vinson; Olivier Goulet; Catherine Badens
Journal:  Orphanet J Rare Dis       Date:  2013-01-09       Impact factor: 4.123

Review 9.  Syndromic (phenotypic) diarrhea in early infancy.

Authors:  Olivier Goulet; Christine Vinson; Bertrand Roquelaure; Nicole Brousse; Christine Bodemer; Jean-Pierre Cézard
Journal:  Orphanet J Rare Dis       Date:  2008-02-28       Impact factor: 4.123

10.  Trichohepatoenteric Syndrome or Syndromic Diarrhea-Report of Three Members in a Family, First Report from Iran.

Authors:  F E Mahjoub; F Imanzadeh; S Mahdavi Izadi; A Nahali Moghaddam
Journal:  Case Rep Pathol       Date:  2016-01-06
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