False‐negative prenatal diagnosis of restrictive dermopathy

Hamel, B.C.J.; Happle, Rudolf; Steylen, P. M.; Kollée, L.A.A.; Stekhoven, J. H. Schuurmans; Nijhuis, Jan G.; Rauskolb, R.; Anton‐Lamprecht, I.

doi:10.1002/ajmg.1320440622

Cited by 21 publications

(14 citation statements)

References 7 publications

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“…Because of the high risk of recurrence in subsequent pregnancies, there is a need for prenatal diagnosis. Skin biopsy is not reliable, as Hamel et al [1992] showed. Unfortunately, all specific changes seem to develop after 22 weeks of gestation.…”

Section: Discussionmentioning

confidence: 94%

Restrictive dermopathy: Report and review

et al. 1997

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Restrictive dermopathy (RD) is a lethal autosomal recessive genodermatosis (MIM No. 275210) in which tautness of the skin causes fetal akinesia or hypokinesia deformation sequence (FADS). Polyhydramnios with reduced fetal movements is followed by premature delivery at around 31 weeks gestation. Manifestations include a tightly adherent, thin, translucent skin with prominent vessels, typical facial changes, generalized joint contractures, enlarged fontanelles, dysplasia of clavicles, respiratory insufficiency, and an enlarged placenta with short umbilical cord. Histologic abnormalities of the skin include thin dermis with paucity and hypoplasia of the appendages and abnormally arranged collagen bundles. Elastic fibers are nearly missing. The subcutaneous fat is slightly increased. These skin findings usually appear after 22 or 24 weeks of gestation, which is why prenatal diagnosis with skin biopsy may fail. This disease is easily differentiated from other congenital FADS, such as Pena-Shokeir syndrome, COFS syndrome, Parana hard-skin syndrome, etc. We report on an affected boy of consanguineous parents and 30 previous cases are reviewed.

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Section: Discussionmentioning

confidence: 94%

Restrictive dermopathy: Report and review

et al. 1997

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“…Hamel et al performed skin biopsies at 20 weeks on several cases of restrictive dermopathy and could not demonstrate any skin abnormalities. They concluded that these abnormalities develop only later in fetal life 10 .…”

Section: Restrictive Dermopathy: Two-and Three-dimensional Sonographimentioning

confidence: 99%

Restrictive dermopathy: two‐ and three‐dimensional sonographic features

Feldman-Leidner¹,

Delaney²,

Malikina³

et al. 2008

Ultrasound in Obstet & Gyne

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“…Eindeutige histologische Veränderungen treten erst nach der 20.-22. SSW auf [8,10,17,21], wenn die mesenchymale Entwicklung der Dermis und die Keratinisation der Epidermis sich dem Ende zuneigt [26,27]. Hamel und Mitarbeiter berichten über einen Fall, in dem fetale Hautbiopsien in der 20.…”

Section: Fazit Für Die Praxisunclassified

“…Hamel und Mitarbeiter berichten über einen Fall, in dem fetale Hautbiopsien in der 20. SSW einen falsch-negativen Befund ergaben [8,10]. Erst nach der 21.…”

Section: Fazit Für Die Praxisunclassified

“…SSW entwickelt sich das Polyhydramnion, erscheinen die Kindsbewegungen reduziert [26,27]. Deshalb ist es wenig wahrscheinlich, daß immunhistochemische oder biochemische Verände-rungen (AE1 Nachweis in den suprabasalen Zellen der Epidermis, Abnahme der hochmolekularen Keratine, Auftreten von niedermolekularen) als früh-zeitige Marker für die pränatale Diagnostik dienen könnten [3,8,10]. Der Differenzierungsarrest muß zwischen der 20. und 29.…”

Section: Fazit Für Die Praxisunclassified

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Restriktive Dermopathiey

et al. 1999

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Restrictive dermopathy is a rare, fatal, autosomal recessive, congenital skin disease. Rigidity of translucent thin skin, which is thus highly vulnerable and tears, spontaneously causes intra-uterine fetal akinesia or hypokinesia deformation sequence (FADS), characteristic dysmorphic facies with fixed open mouth in O position, and generalized joint contractures (arthrogryposis). Polyhydramnios and pulmonary hypoplasia are distinctive manifestations, leading to respiratory insufficiency and premature delivery at about 31 weeks of gestation. We report on a case of a prematurely born infant who presented with the typical morphological features and describe the light- and electron-microscopical findings as described in the literature.

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False‐negative prenatal diagnosis of restrictive dermopathy

Abstract: Restrictive dermopathy is a rare autosomal recessive lethal skin dysplasia. It has been assumed that the characteristic morphologic abnormalities should allow a reliable prenatal diagnosis on fetal skin biopsies at about 20 weeks pregnancy. We report on a false-negative prenatal diagnosis.

Cited by 21 publications

References 7 publications

Restrictive dermopathy: Report and review

Restrictive dermopathy: Report and review

Restrictive dermopathy: two‐ and three‐dimensional sonographic features

Restriktive Dermopathiey

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