Symmetric Truncal Aplasia Cutis Congenita following Multifetal Reduction of a Sextuplet Pregnancy

doi:10.1016/j.jpeds.2008.07.009

The Journal of Pediatrics

Volume 153, Issue 6, December 2008, Pages 860-863.e1

https://doi.org/10.1016/j.jpeds.2008.07.009 Get rights and content

Aplasia cutis congenita (ACC) in a symmetric, stellate pattern on the trunk or extremities is classically associated with a fetus papyraceus. We report symmetric truncal ACC in a neonate born of a sextuplet pregnancy that had been reduced to twins. This case highlights truncal ACC as a consequence of modern reproductive medicine.

Section snippets

Case Report

A full-term boy weighing 2870 g was born with large truncal skin defects. He was the product of a sextuplet pregnancy conceived through intrauterine insemination following ovulation stimulation. The pregnancy was reduced to twins at 13 weeks' gestation through ultrasound-guided intrathoracic injections of potassium chloride solution. Amniotic fluid analysis at 17 weeks' gestation demonstrated a markedly elevated α-fetoprotein (AFP) level (10.9 multiples of the median [MoM]; normal value, < 2

Discussion

The ratio of multiple births to total births in the United States has almost doubled over the past 3 decades, reflecting a trend for older maternal ages and increased use of infertility treatments. Currently, approximately 3% of neonates overall and up to 50% of neonates conceived through IVF are the products of multiple-gestation pregnancies.¹² Both IVF and less-invasive infertility treatments (eg, ovarian stimulation) increase the likelihood of monozygotic as well as the more common dizygotic

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Cited by (28)

New features of aplasia cutis congenita type 5 – Skin atrophy associated with respiratory insufficiency and multiple intestinal atresia caused by the early death of twin fetus
2019, Pediatrics and Neonatology
Type V aplasia cutis congenita with fetus papyraceus
2019, JAAD Case Reports
Citation Excerpt :
Histology found small villi consisting of much denser connective tissue and far fewer blood vessels than would typically be expected. ACC associated with FP is categorized as type V. Although most cases of type V ACC occur in twin pregnancies, they have been described in triplet and even sextuplet gestations.3 Reports clearly show that most fetal deaths in type V ACC occur in the late first or early second trimester.
A review of the mechanisms and evidence for typical and atypical twinning
2016, American Journal of Obstetrics and Gynecology
Citation Excerpt :
However, associations with aplasia cutis congenital110-114 intestinal atresia, gastroschisis, and cardiac and pulmonary anomalies have been described.109,110 Fetus papyraceus has been reported in both monochorionic109,111,112 and dichorionic109,113 twin pregnancies and higher-order multiple pregnancies.114 There are no associations with age or parity, but there is a trend toward increased frequency with monochorionicity and velamentous cord insertion.109
The mechanisms responsible for twinning and disorders of twin gestations have been the subject of considerable interest by physicians and scientists, and cases of atypical twinning have called for a reexamination of the fundamental theories invoked to explain twin gestations. This article presents a review of the literature focusing on twinning and atypical twinning with an emphasis on the phenomena of chimeric twins, phenotypically discordant monozygotic twins, mirror-image twins, polar body twins, complete hydatidiform mole with a coexistent twin, vanishing twins, fetus papyraceus, fetus in fetu, superfetation, and superfecundation. The traditional models attributing monozygotic twinning to a fission event, and more recent models describing monozygotic twinning as a fusion event, are critically reviewed. Ethical restrictions on scientific experimentation with human embryos and the rarity of cases of atypical twinning have limited opportunities to elucidate the exact mechanisms by which these phenomena occur. Refinements in the modeling of early embryonic development in twin pregnancies may have significant clinical implications. The article includes a series of figures to illustrate the phenomena described.
Surgical management of aplasia cutis congenita
2015, Anales de Pediatria
La aplasia cutis congénita (ACC) es una malformación congénita rara que afecta sobre todo al cuero cabelludo, aunque puede afectar al pericráneo, el cráneo y la meninges. Las complicaciones pueden llegar a ser fatales, por lo que es necesario un tratamiento oportuno. El tratamiento sigue siendo controvertido, sin encontrar un consenso entre el abordaje conservador y el quirúrgico. El objetivo de este estudio es describir nuestra experiencia en el manejo de la ACC.
Estudio descriptivo retrospectivo de las historias clínicas de los pacientes menores de 14 años con diagnóstico de ACC, atendidos entre el año 2000 y el 2013.
Veintidós casos de ACC con lesiones que variaban de 1 cm (0,79 cm²) a 14 cm (153,94 cm²). Dieciocho casos presentaron lesiones en el cuero cabelludo, 3 en extremidades y uno en tronco. Se realizó tratamiento conservador en 9 y quirúrgico en 13 (8 cierres primarios, 2 plastias, 2 injertos cutáneos y un colgajo). Dos pacientes fallecieron por complicaciones de otras patologías no asociadas a la ACC.
La ACC es infrecuente y puede tener un desenlace fatal. Para prevenirla es necesaria una evaluación inicial completa para establecer un tratamiento oportuno. La cirugía es una buena opción terapéutica, sobre todo en defectos con diámetro > 4 cm (12,6 cm²), ya que disminuye el riesgo de complicaciones mortales.
Aplasia cutis congenita (ACC) is a rare congenital malformation that commonly involves the scalp, but can affect pericranium, bone and dura mater. Complications are rare, but can be fatal, so early treatment must be achieved. The treatment remains controversial with no consensus between the conservative and surgical approach. The aim of this study is to describe our experience in the management of ACC.
Retrospective review of the medical records of all children up to 14 years diagnosed with ACC and treated between 2000 and 2013.
There were a total of 22 cases of ACC with lesions ranging from 1 cm (0.79 cm²) to 14 cm (153.94 cm²). ACC of the scalp was found in 18 cases, with 3 in extremities and 1 in trunk. Conservative treatment was performed on 9 patients and 13 underwent surgical treatment (8 primary closures, 2 plasties, 2 skin grafts, and 1 skin flap). Two patients died due to complications of other diseases not related with the ACC.
ACC is a rare disease that can be fatal. A complete initial assessment to establish early treatment is necessary to prevent this. Surgery should be considered as an initial therapeutic option in defects >4 cm (>12.6 cm²) as it prevents the risk of fatal complications.
Multiple births and aplasia cutis
2009, Journal of Pediatrics
A case of aplasia cutis congenita following fetal reduction of triplet pregnancy conceived through in vitro fertilization
2022, Turkish Journal of Pediatrics

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: The authors declare no financial assistance or conflicts of interest.

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Clinical and laboratory observationSymmetric Truncal Aplasia Cutis Congenita following Multifetal Reduction of a Sextuplet Pregnancy

Section snippets

Case Report

Discussion

J Am Acad Dermatol

J Pediatr

J Pediatr Surg

Am J Obstet Gynecol

Am J Obstet Gynecol

The vanishing twin: a review

Hum Reprod Update

Association of aplasia cutis congenita and fetus papyraceus in a triplet pregnancy

Aust Paediatr J

Aplasia cutis congenita, elevated alpha-fetoprotein, and a distinct amniotic fluid acetylcholinesterase electrophoretic band

Am J Perinatol

Aplasia cutis congenita in an infant of an initial triplet gestation: a case report

Am J Perinatol

Aplasia cutis congenita in surviving co-twins: four unrelated cases

Pediatr Dermatol

Clinical and laboratory observation
Symmetric Truncal Aplasia Cutis Congenita following Multifetal Reduction of a Sextuplet Pregnancy