Chronic diarrhea and skin hyperpigmentation: A new association

Qoaer, Khaled Al; Mehaidib, Ali Al; Shabib, S. A.; Banemai, Mohammed

doi:10.4103/1319-3767.41742

Cited by 4 publications

(6 citation statements)

References 9 publications

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“…The possibility of the existence of milder forms, especially regarding gastrointestinal signs, has to be considered. In 2008, Al Qoer et al described a cohort of children with mild diarrhea, hair and skin abnormalities who may possibly present an authentic SD/THE [20]. …”

Section: Unresolved Questionsmentioning

confidence: 99%

Syndromic diarrhea/Tricho-hepato-enteric syndrome

Fabre

Martinez-Vinson

Goulet

et al. 2013

Orphanet J Rare Dis

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Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases.Abstract in FrenchLes diarrhées syndromiques ou syndrome tricho-hepato-enterique (SD/THE) sont un syndrome rare et sévère dont l’incidence est estimée à 1 cas pour 1 million de naissances et la transmission autosomique récessive. La forme typique associe 5 signes cliniques: une diarrhée grave rebelle nécessitant dans la majorité des cas une nutrition parentérale du fait de la malnutrition, une dysmorphie avec un front large et bombé, une racine du nez large et un hypertélorisme, des anomalies des cheveux qui sont fragiles, cassants, incoiffables et qualifiés de « laineux », un retard de croissance intra utérine et des anomalies de l’immunité à type de déficit en immunoglobuline ou d’absence de réponse aux antigènes vaccinaux. Des anomalies de deux protéines peuvent être à l’origine du syndrome SD/THE: TTC37, une protéine à motif TPR et SKIV2L, une hélicase à ARN, toutes 2 étant des constituants du complexe SKI humain. Le complexe SKI est un co-facteur de l’exosome cytoplasmique qui assure la dégradation des ARN aberrants ou exogènes. Le diagnostic est d’abord clinique puis confirmé par le séquençage des gènes TTC37 et SKIV2L. Le diagnostic différentiel avec les autres formes de diarrhées intraitables est fait grâce aux analyses anatomopathologiques qui montrent dans les ...

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Section: Unresolved Questionsmentioning

confidence: 99%

Syndromic diarrhea/Tricho-hepato-enteric syndrome

Fabre

Martinez-Vinson

Goulet

et al. 2013

Orphanet J Rare Dis

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“…More recently, Fabre et al (4), based on their own observations and other published data (in total 17 patients), suggested that THES and SD should be considered to be the same heterogenous entity-SD/THES. In 2008, Al Qoaer et al (5). described for the first time new patients of Arab origin, who presented with chronic diarrhea, facial dysmorphism, and hair abnormalities.…”

mentioning

confidence: 99%

Expanding Phenotypic and Allelic Heterogeneity of Tricho‐Hepato‐Enteric Syndrome

Monies

Rahbeeni²,

Abouelhoda

et al. 2015

J. pediatr. gastroenterol. nutr.

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Molecular genetics studies are of increasing importance in the diagnosis and classification of congenital diarrheal disorders. We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X). Interestingly, the congenital presence of café-au-lait spots and their distribution in the pelvis and lower limbs were a unique and consistent clinical feature of these patients and may aid differential diagnosis of congenital diarrheal disorders. This study expands allelic and phenotypic heterogeneity of syndromic diarrhea/tricho-hepato-enteric syndrome.

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“…В 2008 г. K. Al Qoaer и соавт. описали новых пациентов арабского происхождения с хронической диареей, лицевым дизморфизмом и нару-шением роста волос [6]. Кроме того, у всех пациентов имелась аномальная гиперпигментация кожи в нижней половине туловища.…”

Section: Discussionunclassified

“…У нескольких вновь описанных пациентов также наблюдали кожные аномалии (ксероз, пятна по типу «кофе с молоком» и ангиомы) [6]. В работе D. М. Monies и соавт.…”

Section: клиническая симптоматикаunclassified