Aplasia cutis congenita and low molecular weight heparin

Abstract

Case reportOur patient, a female, was the third child born to non-consanguinous white parents. A maternal uncle has severehaemophilia A and the child’s mother is a heterozygote forthe most common mutation, the intron 22 inversion of thefactor VIII gene. Her factor VIII levels were normal andshe had no bleeding problems. Her first pregnancy, at theage of 18, culminated in a caesarean section due to breechpresentation and a male infant weighing 3.345 kg wasdelivered in good condition. Six years later, she delivereda girl weighing 2.466 kg, again by caesarean section due tobreech presentation. Five days postpartum, she developed apulmonary embolism treated initially by heparin followedby warfarin for three months. This course of treatmentfinished prior to conceiving her third pregnancy.During this third pregnancy, she was treated with pro-phylactic Tinzaparin, a low molecular weight heparin from10 weeks of gestation, at a dose of 4500 IU daily. The dosewas adjusted according to peak and trough anti-Xa lev-els,with an increase in dose to 4500 IU twice dailyfrom 23 weeks and a plan to continue until six weeks post-delivery.At11weeks,shehadachorionicvillousbiopsyforantenatal diagnosis of haemophilia. The procedure was un-complicated and analysis showed a normal female (46XX).At 14 weeks of gestation, she had two days of slightbleeding. The 20-week anomaly scan was normal. She wasadmitted at 32 weeks with a three-week history of coughand right-sided rib and back pain. A VQ scan excludedpulmonary embolism.At 38 weeks and 4 days of gestation, an elective cae-sarean section was conducted and a female infant wasdelivered in good condition. Her birthweight was 2.79 kgand her Apgar scores were 8 at 1 minute and 10 at5 minutes. On day two she was noted to have an ulcer-likelesion at the base of the occiput (Fig. 1a). The lesion wascircular and measured 3 by 3 cm. Below this a smaller, raw,circular lesion 0.5 by 0.5 cm, was found and potentially thestart of a smaller defect further down on the neck wasobserved. Above the right ear, a fourth oval lesion mea-sured about 3 by 1.5 cm. Over the next few days, the le-sions started to heal with scars and there was sometethering of skin at the edges. There were no local or sys-temic signs of infection. Developmental and general exami-nations were normal, she fed and handled well and therewere no dysmorphic features. Skull radiographs showedslight thinning of the vault over the right occiput but thebone was intact; ultrasound of the head and neck wasnormal.The baby was reviewed at six months. Her motherreportedthatthelesionstooktwomonthstoheal completelyduring which they seemed sore, as she would becomeirritable and cry if they were touched. She had since beenreviewed and discharged from further paediatric care andwasotherwisewellanddevelopingnormally.Oninspection,all areas of aplasia cutis congenita had healed with thickscar tissue and no hair had grown in these regions (Fig. 1b).Referral had been made to a plastic surgeon to review thescarring.DiscussionCutis aplasia (also known as aplasia cutis congenita) is alocalised deficiency of the skin, which may be a thin,transparent membrane or completely absent. Underlyingbone, especially skull, may show disturbed development.Aplasia cutis congenita has been described affecting thescalp alone or as a more extensive widespread disorderinvolving the trunk and limbs, often symmetrically.In infants with aplasia cutis congenita, the major con-cerns are usually scarring and the cosmetic appearance.Aplasia cutis congenita may also cause a great deal ofparental anxiety and may influence early bonding with thechild. Pain and secondary infection are possible whereverthe aplasia cutis congenita has occurred. More specificlocation-dependent complications may also occur, such ashaemorrhage, meningitis and neurological sequelae.BJOG: an International Journal of Obstetrics and GynaecologyFebruary 2005, Vol. 112, pp. 256–258