1978
DOI: 10.1016/s0022-3476(78)80436-3
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Familial pyloric atresia associated with epidermolysis bullosa

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Cited by 63 publications
(17 citation statements)
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“…In each case, except family F (Table 1), there was no family history of a blistering disease, and the parents in each case were clinically unaffected. Family F lived in an isolated aboriginal community where similar cases were reported, one of which was in a distant family member (26). Typically, the affected newborn was diagnosed as having pyloric atresia that required surgical intervention, and, in most cases, skin blistering was noted at birth or shortly thereafter (Fig.…”
Section: Resultsmentioning
confidence: 83%
“…In each case, except family F (Table 1), there was no family history of a blistering disease, and the parents in each case were clinically unaffected. Family F lived in an isolated aboriginal community where similar cases were reported, one of which was in a distant family member (26). Typically, the affected newborn was diagnosed as having pyloric atresia that required surgical intervention, and, in most cases, skin blistering was noted at birth or shortly thereafter (Fig.…”
Section: Resultsmentioning
confidence: 83%
“…2 De-Groot [14] El-Shafie [15] 2 Swinbume [16] 2 Bull [ 171 2 Egan [18] 2 Rosenbloom [19] 2 Hayashi [20] 2 Shimizu [21] 2 Prenatal diagnosis is essential for transferring the mother to a facility where the staff are equipped to evaluate, diagnose, and treat all possible antenatal and postnatal complications. Knowledge of the pathology would encourage the obstetrician to prolong the pregnancy so that the fetus will be delivered as mature as possible to avoid prematurity and hyaline membrane disease in a neonate that will undergo subsequent operation [13].…”
Section: Discussionmentioning
confidence: 99%
“…3 Abnormal expression of integrin ␣6␤4, also a component of hemidesmosomes in stratified and transitional epithelia, has been identified in a particular form of JEB associated with pyloric atresia (EB-PA) (OMIM 226730). [11][12][13][14][15] Recently, mutations in the genes encoding the ␣6 and ␤4 integrin subunits (ITGA6 and ITGB4, respectively) have been described in EB-PA. [16][17][18][19][20][21][22] In this report, we describe two unrelated children with EB-PA, aged 6 and 3 years, with unusually mild cutaneous features of disease, although the older patient had marked urogenital tract involvement. [11][12][13][14][15] Recently, mutations in the genes encoding the ␣6 and ␤4 integrin subunits (ITGA6 and ITGB4, respectively) have been described in EB-PA. [16][17][18][19][20][21][22] In this report, we describe two unrelated children with EB-PA, aged 6 and 3 years, with unusually mild cutaneous features of disease, although the older patient had marked urogenital tract involvement.…”
Section: Discussionmentioning
confidence: 99%