Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management.

BACKGROUND/AIMS: The object of this report is to review the management of patients having the composite type of aplasia cutis congenita in the context of the relevant literature on this condition. METHODS: Clinical records, neuroimaging and photographic documentation of identified cases of composite type aplasia cutis congenita, with a comprehensive review of the literature, are the material basis of this report. RESULTS: Two neonates with composite type aplasia cutis congenita are described as examples of this disorder, and their management, including complications, is discussed. Both had satisfactory outcomes. CONCLUSIONS: Early aggressive surgical management with scalp rotation flaps has a low rate of complications, provides satisfactory functional and esthetic outcome, minimizes hospital stays, and should provide cost-effective care by reduction of the time to secure wound closure. Most bony defects, even large ones, commonly ossify completely. Optimal case management requires a synchronized neurosurgical and plastic surgical team. Intuitive nonsurgical and surgical approaches by the inexperienced can be hazardous.

Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.

INTRODUCTION: There have been 23 previously published cases of patients with syndromic craniosynostosis and human tails. In many of these, the tail was composed of prominent coccygeal and sacral vertebrae, curved in a retroverted instead of in the normal anterograde fashion. This has been termed sacrococcygeal eversion. In those cases in which genetic testing results are reported, there were fibroblast growth factor receptor 2 (FGFR2) mutations. METHODS: We present three patients with Pfeiffer syndrome and sacrococcygeal eversion. Two had genetic testing and both had FGFR2 mutations, one of them a novel mutation in patients with syndromic craniosynostosis and sacrococcygeal eversion. We also briefly review the literature on craniosynostosis and human tails. RESULTS: All but one reported patient has had either Pfeiffer, Crouzon, or Beare-Stevenson syndrome. Most patients, including ours, have had severe manifestations of their syndrome. Although the pathogenesis of sacrococcygeal eversion is unknown, a similarly posteriorly curved tail bud develops in normal human embryos during the second month of gestation. CONCLUSIONS: Perhaps increased FGFR2 activation during this embryonic period leads to abnormal differentiation or regression of the tail bud and, in turn, sacrococcygeal eversion, in certain patients with severe syndromic craniosynostosis.

Cranial vault expansion by distraction osteogenesis.

OBJECT: The object of this report is to present a conceptual and technical approach for expanding the cranial vault, by distraction osteogenesis, in patients with craniocephalic disproportion secondary to pancraniosynostosis and in patients with complex syndromic craniofaciosynostoses undergoing operations for aesthetic improvement. METHODS: The clinical characteristics, techniques used, outcome and complications for all patients who underwent cranial vault expansions with distraction osteogenesis in Children's Hospital of Denver were reviewed. RESULTS: Twenty-six cranial vault expansions were done in 24 patients. Nineteen patients presented with intracranial hypertension. Twelve of these had pancraniosynostosis and 8 had a syndromic diagnosis. Large segments of cranial bone were translated in a controlled manner for distances up to 30 mm. All but one of the patients with intracranial hypertension experienced complete resolution. CONCLUSIONS: Cranial vault expansion by distraction osteogenesis has the great advantage, as the name implies, of generating new and vascularized autologous bone of the correct shape and in correct locations. The technique, although not simple and not risk free, is much less technically complicated and places patients at lower risk for the most serious complications than does single-stage vault expansion. Less soft tissue dissection and less devascularization of bone are required and there are no postoperative dead spaces. Distraction osteogenesis facilitates far greater vault expansions than do single-stage procedures and can be accomplished in any desired direction.

Fat redistribution following suction lipectomy: defense of body fat and patterns of restoration.

No randomized studies in humans have examined whether fat returns after removal or where it returns. We undertook a prospective, randomized-controlled trial of suction lipectomy in nonobese women to determine if adipose tissue (AT) is defended and if so, the anatomic pattern of redistribution. Healthy women with disproportionate AT depots (lower abdomen, hips, or thighs) were enrolled. Baseline body composition measurements included dual-energy X-ray absorptiometry (DXA) (a priori primary outcome), abdominal/limb circumferences, subcutaneous skinfold thickness, and magnetic resonance imaging (MRI) (torso/thighs). Participants (n = 32; 36 ± 1 year) were randomized to small-volume liposuction (n = 14, mean BMI: 24 ± 2 kg/m(2)) or control (n=18, mean BMI: 25 ± 2) following baseline. Surgery group participants underwent liposuction within 2-4 weeks. Identical measurements were repeated at 6 weeks, 6 months, and 1 year later. Participants agreed not to make lifestyle changes while enrolled. Between-group differences were adjusted for baseline level of the outcome variable. After 6 weeks, percent body fat (%BF) by DXA was decreased by 2.1% in the lipectomy group and by 0.28% in the control group (adjusted difference (AD): -1.82%; 95% confidence interval (CI): -2.79% to -0.85%; P = 0.0002). This difference was smaller at 6 months, and by 1 year was no longer significant (0.59% (control) vs. -0.41% (lipectomy); AD: -1.00%; CI: -2.65 to 0.64; P = 0.23). AT reaccumulated differently across various sites. After 1 year the thigh region remained reduced (0.77% (control) vs. -1.83% (lipectomy); AD: -2.59%; CI: -3.91 to -1.28; P = 0.0001), but AT reaccumulated in the abdominal region (0.64% (control) vs. 0.42% (lipectomy); AD: -0.22; CI: -2.35 to 1.91; P = 0.84). Following suction lipectomy, BF was restored and redistributed from the thigh to the abdomen.

Expansion cranioplasty with jackscrew distracters for craniosynostosis and intracranial hypertension in transplanted osteopetrosis.

BACKGROUND: An 11-month-old boy with autosomal recessive infantile osteopetrosis presented, 7 months after bone marrow transplantation, with normal ventricular size and life-threatening intracranial hypertension due to pansynostosis. METHODS: The cranial vault was expanded by using jackscrew distracters to upwardly advance the upper part of the calvarium. RESULTS: The procedure achieved a 15-mm upward expansion of the cranial vault over a 15-day period, and the volume of the cranial vault was increased by 139 ml. All clinical manifestations of intracranial hypertension resolved. CONCLUSION: Cranial vault expansion with jackscrew distracters was successful in relieving intracranial hypertension in an infant with pancraniosynostosis complicating bone marrow transplanted malignant infantile osteopetrosis.