EEC syndrome: Report on 20 new patients, clinical and genetic considerations

Rodini, E. S. O.; Richieri-Costa, Antônio

doi:10.1002/ajmg.1320370112

Cited by 105 publications

(54 citation statements)

References 62 publications

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“…Both the EEC and the Rapp-Hodgkin syndrome can present with urinary tract malformation. However, the ectrodactyly seen in one foot of our patient strongly favors the EEC syndrome [Rodini and Richieri-Costa, 1990]. In Rapp-Hodgkin syndrome a midface hypoplasia is constant; this was not found in our patient.…”

Section: Discussioncontrasting

confidence: 40%

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Hypoplastic thymus and T-cell reduction in EECUT syndrome

et al. 1997

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We report on a patient with EEC/EECUT syndrome and concomitant hypoplasia of the thymus and reduction of T cells in secondary lymphatic organs. The patient was born prematurely at 35 weeks of gestational age and exhibited ectodermal dysplasia, ectrodactyly, cleft palate and urinary tract abnormalities. On the left side, a large ureterocele was present. On the right side, an atretic ureter was found. Both conditions had led to intrauterine hydronephrosis, renal dysplasia, oligohydramnios, pulmonary hypoplasia, and death of the child. Ureteral malformations are thought to be of epithelial origin. Autopsy showed only small rudiments of thymic tissue containing single epithelial cells, but were completely devoid of Hassall corpuscules. Again, this clearly points to an ectodermal defect. Although there was severe reduction of T cells in secondary lymphatic organs, the thymic defect would not have necessarily led to immunological deficiency; perhaps this is the reason that an epithelial defect in the thymus of patients with EEC syndrome has not yet been reported. With regard to an updating of the diagnosis of the EEC/EECUT syndrome, an "EEC/EECUT plus" syndrome is suggested.

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Section: Discussioncontrasting

confidence: 40%

“…We report on a patient with ectrodactyly, ectodermal dysplasia, and cleft lip and/or palate (EEC) syndrome [Rodini and Richieri-Costa, 1990;Fosko et al, 1992]. The combination with urinary tract pathology has been termed EECUT syndrome [Hecht, 1985;London et al, 1985].…”

Section: Introductionmentioning

confidence: 99%

Hypoplastic thymus and T-cell reduction in EECUT syndrome

et al. 1997

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“…The frequency of presentation of the different manifestations is as follows: ectodermal dysplasia (10-100%), lacrimal duct alterations (70-96.5%), ectrodactyly (78-88%), cleft lip/palate (58-88%), urogenital alterations (15-55%), deafness (8-28%) and mental retardation (1-16%). [20][21][22] EEC syndrome can be diagnosed prenatally by ultrasound, which detects the structural abnormalities associated with the syndrome including cleft lip, cleft palate, kidney abnormalities and limb abnormalities. Prenatal DNA testing can be done by chorionic villi sampling or amniocentesis.…”

Section: Discussionmentioning

confidence: 99%

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a rare entity

Sabhlok¹,

Mishra²,

Tripathy³

et al. 2015

Plast Aesthet Res

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Ectrodactyly-ectodermic dysplasia-cleft lip/palate (EEC) syndrome is a rare congenital anomaly of inherited origin and varying clinical features. This syndrome has three main symptoms, which display variable expression and penetrance. The management of this syndrome is challenging, with few reports in the medical literature. We present a case of a 22-year-old boy with EEC syndrome and offer insight into current knowledge about this syndrome.

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“…There may also be abnormalities of the hands and cleft lip/palate. Cases are often sporadic, although autosomal dominant inheritance occurs and there is great variability in the clinical expression [12,13]. Individuals with this disorder are prone to repeated infections of the upper airways, eyes, urinary tract and skin as in case 3.…”

Section: Discussionmentioning

confidence: 99%

Non-traumatic causes of perianal hemorrhage and excoriation in the young

Byard

Donald

Rutty

2008

Forensic Sci Med Pathol

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The discovery at autopsy or at a death scene of fresh perianal hemorrhage and/or cutaneous excoriation in a young child is always of concern as this raises the possibility of inflicted injury. Three cases are reported where perianal bleeding and excoriation that were initially considered due to possible sexual assault were subsequently found to be of a non-suspicious nature. Case 1: A previously well 18-month-old boy was accidentally hanged. Fresh perianal hemorrhage that had raised the possibility of sexual assault was subsequently shown to be due to perineal streptococcal dermatitis. Case 2: A 2-year-old girl vomited and then stopped breathing. Fresh blood at the anus, that was also thought to be patulous, raised suspicions of sexual assault. At autopsy, however, bleeding around the normally configured anus was due to a midgut volvulus associated with intestinal malrotation. Case 3: A 21-month-old girl was found dead in her cot. Sexual abuse was suspected when lacerations were allegedly found around her anus. These were, however, due to skin lesions from her previously diagnosed ectodermal dysplasia clefting syndrome. Death was due to upper airway obstruction from acute and chronic inflammation. There was no evidence of anogenital trauma or sexual assault in any of the cases. Although inflicted traumatic causes of perianal hemorrhage and excoriation must be judiciously sought in the young, the current cases demonstrate that organic etiologies must also be considered. Perianal infections, congenital malformations of the mesentery and intestines, and inherited disorders of the skin may all produce findings that may initially suggest that sexual assault has occurred. Careful examination with appropriate photography and/or microbiological testing are required.

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EEC syndrome: Report on 20 new patients, clinical and genetic considerations

Cited by 105 publications

References 62 publications

Hypoplastic thymus and T-cell reduction in EECUT syndrome

Hypoplastic thymus and T-cell reduction in EECUT syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a rare entity

Non-traumatic causes of perianal hemorrhage and excoriation in the young

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