Maternal serum and amniotic fluid concentrations of alphafetoprotein in epidermolysis bullosa simplex.

Yacoub, Tagreeb; Campbell, Candace; Gordon, Y. B.; Kirby, John D.; Kitau, M. J.

doi:10.1136/bmj.1.6159.307

Cited by 29 publications

(15 citation statements)

References 3 publications

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“…Although most often associated with open neural tube defects this has been described in association with severe fetal dermatoses 30 – 33 including EBS. 34 …”

Section: Discussionmentioning

confidence: 99%

Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential

Shemanko

Horn²,

Keohane

et al. 2000

British Journal of Dermatology

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The clinical features of the Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) can, in an infant, be indistinguishable from other severe forms of epidermolysis bullosa (EB). Two unrelated infants with no family history of skin disease are described who, within hours of birth, developed extensive blistering of skin and oral mucosae and who both subsequently developed hoarse cries. Despite this superficial resemblance to other forms of EB, electron microscopy revealed a basal cell rupture and keratin aggregates characteristic of EBS-DM in the skin of both infants and in the vocal cord epithelium of one. Molecular analysis confirmed the diagnosis by identification of mis-sense point mutations in basal cell keratin genes in both cases. One patient carries a point mutation in keratin 14 (converting arginine at position 125 to histidine) and the other has a novel point mutation in keratin 5 (converting serine at position 181 to proline). Hoarseness is not a well documented feature of EBS-DM and is usually associated with junctional EB. These two patients demonstrate that the presence of a hoarse cry in an infant affected by severe EB does not necessarily indicate a poor prognosis.

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“…Although most often associated with open neural tube defects this has been described in association with severe fetal dermatoses 30 – 33 including EBS. 34 …”

Section: Discussionmentioning

confidence: 99%

Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential

Shemanko

Horn²,

Keohane

et al. 2000

British Journal of Dermatology

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“…2 Yacoub et al reported an elevated maternal serum alpha-fetoprotein in three consecutive examinations at 16, 17, and 18 weeks' gestation in an EB pregnancy. 7 These authors proposed that the elevated maternal serum alpha-fetoprotein was the result of fetal serum transudation into a bullae that subsequently ruptured into the amniotic fluid. Our first case further supports Yacoub et al's observation.…”

Section: Discussionmentioning

confidence: 99%

The snowflake sign. A sonographic marker for prenatal detection of fetal skin denudation.

Meizner

Carmi²

1990

Journal of Ultrasound in Medicine

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Fetal skin denudation is probably a rare phenomenon because the occurrence of bullae in the blister· formation skin disorders is a postnatal event. It has been suggested that the large skin defects observed in aplasia cutis congenita (ACC) might be the result of in utero peeling of skin secondary to fetal movements. 1 Moreover, the finding of high levels of alpha-fetoprotein in amniotic fluid with epidermolysis bullosa (EB) further suggests the occurrence of in utero blistering and denudation of skin. 2 We report two cases with blister-formation skin disorders, namely ACC and bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis), where a distinctive sonographic sign representing in utero skin denudation was observed. The association of high maternal serum alpha-fetoprotein and this sonographic sign should raise the possibility of skin denudation disorders, especially when a previous positive family history is present. CASE REPORTCase 1 A 20-year-old Bedouin woman gravida 3, para 2, was refened for an ultrasound scan because of raised maternal serum alpha-fetoprotein. Two previous gestations had ended in the delivery of infants suffering from ACC. A single fetus was observed at 19 weeks' gestation as dated by the biparietal diameter, head circumference, abdominal circumference, and femur length. No fetal or placental abnormalities were detected. However, multiple small echogenic particles were observed floating in the amniotic cavity. These particles were detected whenever the fetus moved or when pressure was applied on the maternal abdomen during the scan. These particles resembled snowflakes (Fig. 1). The diagnosis of a third case of ACC was suggested, but the parents refused pregnancy termination. The snowflake sign was observed at further scans performed at 24, 26, and 28 weeks of gestation. The infant was born prematurely at 28 weeks of gestation, weighing 1,090 g. Skin was absent from the toes to the middle of the thighs with sparing of only the tips of the toes on the left foot (Figs. 2 and 3). Absence of skin was also noted on the dorsum of the left hand and wrist and from the right and left sides of the anterior upper neck. The infant died at 36 hours from severe respiratory distress. A cytogenetic study showed a normal female chromosome constitution (46,XX). Histologic examination of skin at the margin of denuded areas showed loss of epidermis with condensation of dermal collagen and inflammatory cellular infiltrate.Case 2 A 27 -year-old woman, gravida 2, para 1, was referred for sonography at 21 weeks' gestation because of discrepancy between size and dates. Her past medical history was uneventful, and one previous pregnancy had ended in the delivery of a normal infant. A single vertex-presenting fetus was ReceivedNovemberl3,1989, fromthe•ultrasoundUnit,Divisionof observed on ultrasound. No gross malformations were deObstetrics and Gynecology and fGenetics Unit, Soroka University tected, and fetal biometry corresponded to the dates. Again, as Hospital, Faculty of Health Sciences, Ben-Gurion...

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“…To the best of our knowledge, this report is the first description of a rare case of EB associated with a normal maternal serum AFP concentration, an unusual manifestation of extracutaneous findings, and no family history of genetic disease. An elevated AFP level in the maternal serum and amniotic fluid has been reported previously in mothers with EB fetuses, resulting from transudation of fetal serum into the amniotic fluid through extensive blistering and denudation of the skin . Although only a few case reports to date have demonstrated a normal AFP concentration in the maternal serum or amniotic fluid in affected pregnancies, the explanation for this normal AFP concentration might be that there had been no leakage of exudate through rupture of bullae at the time of sampling .…”

Section: Discussionmentioning

confidence: 79%

Unusual prenatal sonographic findings without an elevated maternal serum alpha‐fetoprotein level in a fetus with epidermolysis bullosa

Jeong

Won

Lee

et al. 2015

J of Clinical Ultrasound

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A 31-year-old pregnant woman was referred to us at 34.6 weeks' menstrual age for sonographic evaluation of a fetal left lower limb abnormality. Sonographic findings revealed shortening of the left tibia and dorsal hyperflexion of the left foot. There was no family history of genetic disease, and the maternal serum alpha-fetoprotein concentration was normal. A male infant was born with extensive skin peeling, mainly on his left leg, associated with muscular dystrophy. Epidermolysis bullosa was confirmed on a skin biopsy; the neonate died 53 days after birth as a result of severe sepsis. Although cutaneous epidermolysis bullosa is difficult to diagnose prenatally, shortening and deformity of extremities may provide a clue to the diagnosis, even when the maternal alpha-fetoprotein concentration is normal. © 2015 Wiley Periodicals, Inc. J Clin Ultrasound 44:319-321, 2016.

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Maternal serum and amniotic fluid concentrations of alphafetoprotein in epidermolysis bullosa simplex.

Abstract: proportionating system was dismantled and a gas leak found in the Cambridge Bourdon tube type dialysate temperature gauge which caused the needle pointer to register about 20'C too low. The fault had come on over a period of time and, unfortunately, it had been assumed that the Cambridge

Cited by 29 publications

References 3 publications

Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential

Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential

The snowflake sign. A sonographic marker for prenatal detection of fetal skin denudation.

Unusual prenatal sonographic findings without an elevated maternal serum alpha‐fetoprotein level in a fetus with epidermolysis bullosa

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