Epidermolysis bullosa letalis associated with congenital pyloric atresia

Peltier, F. A.

doi:10.1001/archderm.117.11.728

Cited by 9 publications

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“…In several case reports describing EB dystrophia with pyloric atresia, the diagnosis was based on cUnical features (9,11). In contrast, our patient is the seventh reported case in which EM disclosed junctional disease (1)(2)(3)(4)(5). It is unlikely that JEB and pyloric atresia, two rare autosomal recessive disorders, would be noted concurrently by chance alone.…”

Section: Discussionmentioning

confidence: 71%

“…Two rare hereditary disorders, pyloric atresia and EB, have occurred concurrently in a number of reported individuals and sibling pairs. The specific subtypes of EB associated with pyrloric atresia have included simplex (7), junctional (1)(2)(3)(4)(5)8), and dystrophic forms (9)(10)(11). In several case reports describing EB dystrophia with pyloric atresia, the diagnosis was based on cUnical features (9,11).…”

Section: Discussionmentioning

confidence: 99%

“…Junctional epidermolysis bullosa (JEB), also known as epidermolysis bullosa hereditaria letalis or Herlitz's disease, has traditionally implied a grave prognosis. Several reports described the association of JEB and pyloric atresia (1)(2)(3)(4). In addition, at least three patients with this association had severe genitourinary disease; aU died in early infancy (1,5).…”

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Jenctlonal Epidermolysis Bullosa, Pyloric Atresia, and Genitourinary Disease

Berger

Detlefs

Donatucci

1986

Pediatric Dermatology

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The occasional concurrence of junctional epidermolysis bullosa and pyloric atresia has been documented in the literature. Several infants reported as having this combined disorder were also noted to have significant genitourinary disease. We treated a 4 1/2-year-old boy with mild cutaneous manifestations of junctional epidermolysis bullosa, corrected pyloric atresia, and significant renal disease secondary to recurrent obstruction of the ureterovesical junction.

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Section: Discussionmentioning

confidence: 71%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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Jenctlonal Epidermolysis Bullosa, Pyloric Atresia, and Genitourinary Disease

Berger

Detlefs

Donatucci

1986

Pediatric Dermatology

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Epidermolysis bullosa and amniotic bands

1984

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We were interested in the recent article by Lubinsky "Familial Amniotic Bands" (Am J Med Genet 14: [81][82][83][84][85][86][87] 1983). This author suggests that amniocentesis should be avoided in women who have given birth to anencephalic children with signs of amniotic band constriction. We think that this is the case also for epidermolysis bullosa. During the last 10 years, eight newborn infants affected with different types of epidermolysis bullosa have been hospitalized in our institute. Three of these infants showed associated anomalies due to amniotic band constriction.Patient 1 was a male infant born vaginally at term after an uncomplicated pregnancy. The lower third of his legs showed constriction rings with hypoplasia of the more distal parts of the limbs; blisters filled with clear fluid formed in all areas of the skin subjected to minimal trauma. These lesions healed without scarring. The mother was 24 years old and had another child affected with the same skin disease but with no anomalies due to amniotic bands. Light and electron microscopic observation of a skin sample showed lysis of the cells of the suprabasal layers of the epidermis. These clinical and anatomopathological signs confirmed the diagnosis of epidermolysis bullosa simplex.Patient 2 was a male infant born at 35 weeks from a breech presentation after a pregnancy complicated by severe nausea and vomiting in the first 3 months. The left lower limb was smaller than the right and contracted in flexion at the knee.Constriction rings were present on both wrists. (Fig. 1). The slun of the distal part of the left lower limb and right lateral cervical area was absent: aplasia cutis. Blistering occurred in areas receiving even slight trauma. Light microscopy showed detachment of the cells of the basal layers of the epidermis along the basement membrane both in unaffected areas and in sites where blistered had formed. The infant died at 9 days and was also found to have atresia of the pylorus. This is the 16th case of associated epidermolysis bullosa-pyloric atresia to be reported. The skin condition was diagnosed as junctional epidermolysis.

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Prenatal Detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha‐fetoprotein

1993

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We report on the prenatal diagnosis of epidermolysis bullosa letalis with pyloric atresia in a pregnancy not known to be at risk for this condition. Elevated maternal serum alpha-fetoprotein levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atresia, and echogenic particles in the amniotic fluid, the "snowflake sign," previously described in two pregnancies of fetuses with disorders of skin sloughing. Amniotic fluid alpha-fetoprotein was markedly elevated and the acetylcholinesterase was positive. The diagnosis of epidermolysis bullosa letalis with pyloric atresia was confirmed after delivery by electron microscopy of fetal skin which showed typical changes of hypoplastic absent hemidesmosomes and separation along the dermal-epidermal junction. None of these abnormal prenatal findings are consistently present in pregnancies with epidermolysis bullosa with pyloric atresia. Thus, although useful when abnormal, when the test results are normal, the need for confirmatory fetoscopy and fetal skin biopsy remains.

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Epidermolysis bullosa letalis associated with congenital pyloric atresia

Cited by 9 publications

References 0 publications

Jenctlonal Epidermolysis Bullosa, Pyloric Atresia, and Genitourinary Disease

Jenctlonal Epidermolysis Bullosa, Pyloric Atresia, and Genitourinary Disease

Epidermolysis bullosa and amniotic bands

Prenatal Detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha‐fetoprotein

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