Large aplasia cutis congenita of the vertex conservative management.

BACKGROUND: Aplasia cutis congenita (ACC) of the vertex with bone defect is a rare and begnin anomaly that can involve the epidermis, dermis, and subcutaneous tissues of the scalp with significant bone defect Bajpai and Pal (J Pediatr Surg 38(2):e4, 2003). When associated with skull defect, this rare malformation carries the risk of severe complications such as rupture of the superior sagittal sinus or infections. METHODS AND RESULTS: We report a case of aplasia cutis congenita of the scalp with skull defect measuring 9 × 10 cm and an exposed sagittal sinus in a newborn. Both conservative and surgical methods have been proposed to treat this condition. In our case, conservative treatment was planned led to complete epithelization and the patient was healing well at 5 years of follow-up. CONCLUSIONS: ACC of the vertex with a large scalp defects present a management dilemma Rocha et al. (Clin Case Rep 3(10):841-4, 2015). Based on a review of the literature, we report this case to demonstrate that even for the largest skin and bone defects, an initial conservative approach may allow for complete wound closure without the need for early surgical intervention.

Rehabilitation of Severely Atrophic Maxilla with Le Fort I Advancement Surgery and Subperiosteal Implant in a Patient With Ectodermal Dysplasia.

OBJECTIVES: In this case, the patient with ectodermal dysplasia lost his teeth and acquired maxillary insufficiency. The aim of this case is to advance the maxilla using Le Fort I surgery and make fixation with a subperiosteal implant. METHODS: On the three-dimensional model, a surgical guide for Le Fort I osteotomy and subperiosteal implant design was planned. In the surgery, Le Fort I osteotomy was made according to the guide, and maxillary advancement was obtained, then a subperiosteal implant was fixated. Prosthetic rehabilitation was made after 1 month. RESULTS: Maxillary repositioning is obtained according to virtual planning and subperiosteal implant is used for both fixation and prosthetic rehabilitation. Proper fixation is ensured and full arch prosthetic rehabilitation supported by a subperiosteal implant is performed. CONCLUSION: With this technique, in the rehabilitation of atrophic maxilla, sagittal insufficiency is corrected with Le Fort 1 surgery, whereas the patient's treatment period is shortened by placing a subperiosteal implant at the same time.

Scalp Closure in Midline Cutis Aplasia-An Absolute Indication for Preoperative Imaging.

The ideal evaluation and treatment of aplasia cutis congenita remains disputed. We present a case of midline scalp cutis aplasia that healed by secondary intention, leaving an area of residual alopecia. There were no clinical indicators of an underlying calvarial defect. Tissue expansion of the scalp was done in preparation for scalp closure. However, on the removal of the expanders and scalp advancement, an unrecognized midline calvarial defect in which a scar tract of herniated dura was found. This resulted in a dural tear, repaired with minimal hemorrhage. However, manipulation of the sagittal sinus resulted in a right subdural hemorrhage followed by cerebral ischemia and a stroke. On the basis of this clinical scenario, we recommend that all cases of midline scalp cutis aplasia undergo preoperative imaging with thin slices of the calvaria before performing scalp advancement-even if the only clinical indication for surgery is scalp alopecia without a palpable skull defect.

Double sleeve guided placement of quadruple zygomatic implants for rehabilitation of a patient with ectodermal dysplasia: A clinical report.

The surgical and prosthodontic treatment for a 22-year-old man with ectodermal dysplasia is described and illustrated. He had never managed to wear complete dentures, and implant-retained or implant-supported prostheses were indicated. However, the placement of conventional maxillary endosseous implants was contraindicated. A novel surgical template with double sleeves was used to guide osteotomies for 4 zygomatic implants used with an unloaded, one-stage approach. After confirming osseointegration, prosthetic rehabilitation began with an interim implant-supported fixed prosthesis to evaluate esthetics, phonetics, and hygiene maintenance. Clinical challenges included lip biting and speech articulation.

A Case of Large Aplasia Cutis Congenita with Underlying Skull Defect: Effective Surgical Treatment with Integra® Dermal Regeneration Template.

INTRODUCTION: Aplasia cutis congenita (ACC) is a rare congenital abnormality characterized by the absence of a portion of skin at birth which most commonly involves the scalp and can affect the galea, the pericranium, the bone, and the dura mater. It can be an isolated condition or associated with other disorders. CASE REPORT: We present a case of ACC with a large defect of the scalp and the underlying bone treated with the use of Integra® Dermal regeneration template. At 5 months of follow-up, the wound is completely healed and the bony defect greatly reduced. Contraction of the area of alopecia was observed. DISCUSSION: Several surgical and conservative options have been described to treat this congenital condition: advanced dressing, skin graft, local flaps, free flaps, and other methods. In our case, we used Integra® Dermal templates which provide a barrier for infections, promote cellular activity for a rapid vascularization, and improve healing.

Complex Rehabilitation for an Adolescent with Ectodermal Dysplasia-A 10-Year Follow-Up.

Maxillofacial rehabilitation of patients with ectodermal dysplasia (ED) often presents clinical challenges due to hypodontia and hypoplastic alveolar bone. This clinical report describes a 16-year-old patient suffering from ED who displayed severe hypodontia, maxillary retrusion and thin knife-edge alveolar crest. This patient was treated with distraction osteogenesis and a bone graft harvested from the iliac crest to correct maxillary retrusion and bone insufficiency. Six months later, implants were inserted. Then, implant-supported overdentures were completed. Although a new implant was reinserted during the 10-year follow-up, the results showed that combination surgical treatment achieved a predictable, functional and esthetic outcome in a patient suffering from ED.

Reconstruction of Congenital Cranial Defect Using Autologous Bone Graft in Aplasia Cutis Congenita.

Many methods have been devised to repair cranial defects. Here, we report the use of a simple technique for the repair of a congenital cranial defect associated with aplasia cutis congenita (ACC).A newborn baby at 39 weeks of gestation was consulted with a scalp and cranial defect at the vertex measuring 3 × 1.5 cm. A 3-D CT scan of the skull confirmed the presence of a cranial defect at the sagittal suture and a normal brain structure. On the 13 day of life, the newborn was taken to an operating room. An autologous bone graft was harvested from adjacent normal parietal bone and grafted into the debrided congenital cranial defect. The soft tissue defect was then covered by rotation flaps.The postoperative 3-D CT scan presented a well-positioned autologous bone graft. At 1 month postoperatively, the skull contour was normal and there was no palpable defect.We report a successful surgical outcome for a congenital cranial and soft tissue defect in ACC treated using an autologous bone graft and rotation flaps. Although conservative therapy may be an alternative option, we recommend appropriate surgical reconstruction in patients at risk of potentially fatal complications.

Extensive aplasia cutis congenita associated with cephalocranial disproportion and brain extrusion.

Aplasia cutis congenita (ACC) is a rare congenital disorder which can be linked with a variety of other abnormalities. However, the association of this anomaly with cephalocranial disproportion and brain extrusion is rarely reported. In this report, we present a neonate with an extensive ACC with exposed dura mater and sagittal sinus, who later presented with brain extrusion from the defect and an acrocephalic-like feature required decompressive surgery during the first month of life. Theories regarding etiology and progression of acrocephalic feature and brain protrusion in this case have been discussed.

An Aplasia Cutis Congenita: Suggestion of Management Algorithm.

BACKGROUND: When a child is born with Aplasia cutis congenita (ACC), it is important for the surgeon to decide promptly whether to perform early surgical intervention, or proceed with conservative care. Several patients of ACC have been reported in which various treatments have attempted. However, the criteria of treatment remain controversial. In this study, the authors present an algorithm and the literature review to assist with objective decisions during ACC management. METHODS: A total of 4 cases of infants born with ACC were referred to our department between January 2017 and April 2019. Conservative care was to be considered a first choice of management. RESULTS: The ACC lesions were presented in the scalp vertex area in all 4 infants with the intact dura mater. There was no large vein exposure or sagittal sinus exposure in all infants. All 4 infants were managed with conservative care, which immediately resulted in complete healing of the defects without any complications. CONCLUSIONS: Rapid decision-making is required whether or not the patient requires emergency surgical coverage. Even extensive defects may be healed by conservative care alone, if the dura mater is intact and accompanying large vein or sagittal sinus exposure is not identified.

Extreme aplasia cutis congenita involving the skull.

Aplasia cutis congenita (ACC) is a rare congenital malformation of primarily the skin; it is most commonly seen on the scalp but can occur anywhere on the body. The exact etiology is still unclear but there are many suggested causes. Classification systems have been proposed to help categorize patients and assist with treatment. Treatment options are controversial and range from conservative to surgical interventions. We report an extreme case of ACC that included a significant part of the skull. We discuss this case and review salient literature. Although such cases of ACC with bony involvement are rare, this aspect of the pathology should be kept in mind when treating or imaging such patients.

Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

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.

Technique for Management of Aplasia Cutis Congenita of the Scalp With a Skin Allograft.

Aplasia cutis congenital is a rare condition presenting with localized or widespread congenital absence of skin, most commonly affecting the scalp. Its management remains controversial due to risks associated with both conservative and surgical approaches. The authors report a new technique to manage a large area of aplasia cutis congenital on a newborn's scalp, initially 5.5 cm × 6 cm, with a single skin allograft application. This is a simple procedure, which can be performed on a ward without need for anaesthetic and led to complete epithelialization of the skin defect.

A Novel Local Autologous Bone Graft Donor Site After Scalp Tissue Expansion in Aplasia Cutis Congenita.

Aplasia cutis congenita (ACC) is a rare condition often presenting as an absent area of cutaneous scalp. The calvarium and dura may also be affected. Scalp reconstruction with tissue expansion is often needed for large defects. Patients involving deficient calvarial bone present a dilemma for the reconstructive surgeon, because bone graft donor sites are limited in young children.A thick, bony rim has been noted to form around the periphery of scalp tissue expanders. The authors present a series of 3 patients with ACC for whom this bony hyperostosis was used as donor particulate bone graft at the time of scalp tissue expansion. There was 85 to 100% graft ossification on postoperative computed tomography scan. There were no bone graft-related complications.In conclusion, the hyperostotic rim that forms after scalp tissue expansion can be successfully used as particulate bone graft, decreasing the number of procedures needed for patient with ACC and obviating the need for other donor sites.

Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita.

INTRODUCTION: Aplasia cutis congenita (ACC) is a rare congenital disorder. The purpose of this study was to present outcomes of tissue expander application for scalp reconstruction in extensive ACC. PATIENT/METHODS: In this retrospective study, medical records were reviewed for six patients who underwent serial tissue expander application for scalp reconstruction in ACC between 2000 and 2015. Patient average age was 14.5 (range, 4-25 years). One of the six cases had frontal bone defect, the others had bone and soft tissue defect at the vertex. In the newborn period, all patients have been managed by split-thickness skin grafts without cranioplasty procedures. After grafting and calvarial regeneration, one (or more) sessions of tissue expanders and scalp flap applications were performed for alopecia and soft tissue correction. Radiologic and clinical examination was performed for complications and outcomes. RESULTS: Computerized tomography showed intact calvarium with patchy hyperostosis in all patients. The mean size of grafted areas was 69.5 cm(2) (range, 32-148.5 cm(2)). Minimal distal flap necrosis (6 × 1 cm) was observed in one patient. Serial scalp tissue expansion was performed with at least one session in a 1-year interval. One expander was extracted due to exposition and infection. No total flap losses and no calvarial defects were observed during follow-up (mean; 8.6 years). Clinical examination revealed acceptable cosmetic results in all patients. CONCLUSION: We advocate late expander scalp reconstruction for management of extensive ACC cases. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.

[Aplasia cutis congenita: Update and management]. / Aplasia cutis congenita : mise au point et prise en charge.

Congenital skin aplasia, or aplasia cutis congenita (ACC) is a rare congenital disease. It is characterized by the absence of skin at birth, localized or widespread, of one or several areas. This condition commonly involve the scalp but can also involve more rarely the trunk or limbs. However it is most frequently an isolated disorder, it can be associated with other anomalies, such as the Adams-Oliver syndrome, the association with a fetus papyraceus or with an epidermolysis bullosa. Many hypothesis have been suggested: vascular, genetic, traumatic, pharmacological or an anomaly in the neural tube closure process, but the exact mechanism is still unknown. Morbidity and mortality of this malformation depends on the affected area and the size of the defect. The main risk is the infection, hemorrhage and thrombosis in the case of a scalp defect with an underlying bone defect, the exposure of the meninges and the superior sagittal sinus. The initial management of ACC will therefore involve several plastic surgery techniques, from more simple to more complex, using conservative wound care to flaps techniques. Other techniques can be performed later, in the management of ACC sequelae, such as skin expansion for scarring alopecia.

Calvarial Regeneration With Use of Acellular Dermal Matrix in Aplasia Cutis Congenita.

Aplasia cutis congenital (ACC) is a rare congenital anomaly, most commonly affecting the scalp, with a variable penetrance ranging from a small (<2 cm) area of missing skin to large defects characterized by absent skin, subcutaneous tissue, calvarium, and dura. Calvarial reconstruction in ACC can be challenging. Due to exposed neurologic structures, in large defects, ACC has a high mortality rate. A stable reconstruction is optimally achieved shortly after birth to minimize complications. Herein the authors present a case of a neonate with an extensive (4.5 × 7 cm) cutis aplasia defect associated with absent skin, subcutaneous tissue, calvarium, dura, and with exposed cortical surface and sagittal sinus. This defect was successfully reconstructed in a single stage with the use of an acellular dermal matrix/skin graft construct. The acelluar dermal matrix served as a scaffold for tissue ingrowth, promoting regeneration of the bony calvarium as well as soft tissue. At 18-month follow-up, the patient exhibits a 50% smaller calvarial defect as well as stable skin coverage.

Ectodermal dysplasia: an 11-year follow-up of siblings with 2 implant treatment approaches.

PURPOSE: To describe 2 different treatment approaches for a 20-year-old Caucasian man and his 22-year-old sister who were affected by ectodermal dysplasia (ED) and compromised maxillary bone. MATERIALS AND METHODS: The sister had a history of an iliac crest transplant with 6 implants placed in the maxillary and mandibular arches, 6 years before complications. It was necessary to debride the right sinus, remove the failing infected bone graft and 2 implants. Her brother presented with missing teeth, few remaining deciduous teeth, and wearing all-acrylic resin temporary partials in both the maxillary and mandibular arches. RESULTS: Zygomatic and pterygomaxillary implants were used to rehabilitate the brother with a screw-retained fixed prostheses. His sister had 6 new maxillary implants. Both siblings' mandibular arches were restored with screw-retained implant-supported prostheses. CONCLUSION: Although these siblings affected with ED had different treatment approaches, they both eventually obtained successful outcomes. The brother's treatment was expedited. Both siblings have been followed for a period of 11 years, and all postoperative evaluations have been uneventful.

Use of mini dental implants in ectodermal dysplasia children: follow-up of three cases.

BACKGROUND: Ectodermal dysplasia is a hereditary genodermatosis characterised by a congenital defect of ectodermal structures, causing tooth malformations and anomalies. Implantology has become accepted in these subjects. However cases are often complicated by a reduction in the size of the alveolar process, making the insertion of conventional implants difficult without bone grafting. The reduced diameter of mini-implants and their ease of insertion provide an interesting solution in supporting removable or fixed prosthesis. The purpose of this paper is to report the follow-up of three cases of children (11-12 year- old) with ectodermal dysplasia in which mini-implants were used to support the prostheses. CASE REPORTS: In the first case, two mini-implants were inserted into the anterior part of the mandible for stabilising a removable denture (2 years follow-up). In the other two cases, mini- implants were inserted in the maxilla and mandible to replace missing front teeth with fixed prostheses. Patients were called for follow- up every 6 months: in the sencod case follow-up lasted 4 years in the mandible and 2 years in the maxilla; in the third case, 2 years in the maxilla and 1 year in the mandible. CONCLUSION: The use of mini-implants in children with ectodermal dysplasia can enhance aesthetics, and functional and psychosocial development.

[Johanson-Blizzard syndrome: audiological features and results of cochlear implantation].

Johanson-Blizzard syndrome is a rare congenital autosomal recessive disease characterized by the association of congenital deficiency of the exocrine pancreatic function and multiple malformations. One of the most common manifestations of this pathology is sensorineural hearing loss of different severity and anomalous development of the inner ear. The case of cochlear implantation in the patient presenting with bilateral sensorineural deafness, congenital malformation of the inner ear, and stenosis of the internal auditory canal is reported.