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 with implant-supported overdentures in preteens patients with ectodermal dysplasia: A cohort study.

INTRODUCTION: Hypohidrotic ectodermal dysplasia (HED) patients suffering of oligo-anodontia require early dental treatment to improve oral functions and reduce social impairment. The aim of this study was to evaluate the skeletal growth, implant and prosthetic survival rate, success, and complications after the rehabilitation with a maxillary denture and an implant-supported overdenture provided by a sliding bar in case of severe hypodontia/anodontia related to HED. MATERIALS AND METHODS: This retrospective cohort study began in 2009. Nine patients over 7 years old with HED and associated oligo-anodontia who presented at the University of Bologna for dental treatment were included in the study. They were first treated with conventional dentures and then with a maxillary denture and an implant-supported overdenture with a sliding bar connected to two implants placed in the anterior mandible. The subjects treated were followed for 3-12 years. In each case, orthopanoramic and lateral cephalometric radiographic exam were taken before implant placement and annually after prosthetic load. Vertical and transverse dimensions of the mandible in the symphysis area at implant sites were taken on the lateral cephalometric radiography at the time of implant placement and after 5 years from the prosthetic loading to assess the presence or absence of an anterior mandibular growth. Biologic and mechanical complications were also recorded at every visit. RESULTS: A mandibular vertical growth under the implant apex, at the implant neck, and a sagittal growth of the symphysis after 5 years from the prosthetic loading were observed and measured. Implant and prosthetic success and survival rates were 100% after 8.1 years (mean) follow-up period. No complications were reported except in one patient, where the repositioning of a retentive cap on the counter bar in the superstructure was necessary after 3 years from the prosthetic loading. CONCLUSIONS: The present study suggests that the growth of the mandible near implant sites continues even after their positioning. Implants can be successfully placed and provide support for prosthetic rehabilitation in preteens patients with HED.

Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment.

PURPOSE: Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare genetic disorder. We present ocular findings and their treatment in patients with EEC. METHODS AND RESULTS: We report on 3 female patients (aged 59, 45, and 11 years) suffering from EEC with varying extraocular and ocular severity of phenotypic expression of the disease. Slit-lamp biomicroscopy, visual acuity, and medical treatment were evaluated over 4 months to 4 years. All patients experienced visual impairment and foreign body sensation. Examination revealed bilateral chronic blepharitis, dry eye syndrome, and corneal vascularization and clouding due to limbal stem cell deficiency (LSCD). Patient #1 presented a corneal ulcer with severe stromal thinning on the right eye. Allogeneic simple limbal epithelial transplantation (allo SLET), penetrating keratoplasty combined with allo SLET, and in total 5 amniotic membrane transplantation were performed to preserve the integrity of the eye. In patients #2 and #3, conservative therapy with lubricant eye drops, topical steroids, and antibiotics was sufficient to stabilize LSCD. In all cases, corneal epithelialization and improvement of visual acuity were achieved. CONCLUSIONS AND IMPORTANCE: To the best of our knowledge, this is the first report of surgical treatment in a patient with EEC. Allo SLET may be a surgical option to treat LSCD associated with EEC.

A rare case of aplasia cutis congenita.

In this study, we retrospectively analyzed the clinical data of a newborn with aplasia cutis congenita (ACC) to provide insights for diagnosing and treating the disease. It is believed that ACC with an intact skull and a skin defect diameter of less than 2 cm can be treated conservatively. The main strategies include local disinfection and regular dressing changes to promote epithelial regeneration. The lesion can heal over weeks or months through epithelization adjacent to the defect tissue, resulting in a healed contracture scar with a smooth, hairless surface that can be surgically removed later. For children with large scalp defects or skull defects, skin transplantation, free flap, and cranioplasty can be performed to repair the wound and restore the tissue structure. It is worth mentioning that although this child had a scalp defect larger than 2 cm, conservative treatment still had a significant effect. This suggests that conservative treatment can be considered as the first choice for ACC neonates without skull defects, and surgical treatment can be considered when necessary.

A rare case of extensive aplasia cutis congenita: Our surgical approach.

Aplasia cutis congenita (ACC) is a rare disorder resulting in the absence of skin or deeper layers, most often involving an isolated small area on the scalp. However, extensive cutis aplasia involving multiple large critical areas of the body is extremely uncommon and remains a challenging condition to manage. Initial concerns involve early mortality from excessive moisture loss, hypothermia, bleeding, sepsis, and brain herniation while subsequent sequelae from delayed wound healing resulting in scarring and loss of function also provide numerous management dilemmas. Conservative treatment with dressings, which typically allows epithelisation in small cases, is inadequate. Surgical approaches described such as skin grafts and rotational flaps are also insufficient in extensive ACC involving the chest and entire scalp. In this article, we present how our centre successfully treated a patient with a large total body surface area of ACC involving the entire scalp, neck, forehead, chest, trunk, lateral flanks, and patchy areas of all four limbs.

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.

Surgical and prosthetic rehabilitation of siblings with Witkop tooth and nail syndrome using zygomatic implants: a familial case series of 3 patients with up to 15-year follow-up.

Witkop tooth and nail syndrome is a rare, autosomal dominant type of ectodermal dysplasia that can have significant effects on dentition, including hypoplastic and malformed dentition and significantly atrophic maxillas. Endosseous implants have become one possible solution to replace missing teeth, although their use in areas where bone is sparse becomes challenging. Due to the severe atrophy of the maxillary alveolus, extensive preprosthetic surgeries including orthognathic surgery, extensive bone grafting, and sinus floor augmentations have been recommended prior to placement of endosseous dental implants. Although this treatment has shown favorable outcomes, it requires multiple surgical procedures, contributing to a prolonged treatment course and increased morbidity. An alternative treatment of atrophic maxillas in patients with ectodermal dysplasia includes the use of zygomatic implants. This familial case series discusses 3 siblings, all previously diagnosed with Witkop Syndrome, who underwent comprehensive preprosthetic surgery and prosthetic rehabilitation using zygomatic implants with a follow-up period up to 15 years.

Aplasia cutis congénita: a propósito de un caso / Aplasia cutis congenita: case report / Aplasia congênita da cútis: relato do caso

La aplasia cutis congénita es una patología rara caracterizada por la ausencia de desarrollo de piel. Aunque puede localizarse en diferentes áreas del cuerpo, mayormente afecta el cuero cabelludo y puede extenderse a tejidos subyacentes. Presentamos aquí un caso clínico que se destaca por la extensión de la lesión. Se incluye la descripción del tratamiento y seguimiento del paciente.

Aplasia Cutis Congenita is a rare pathology characterized by the absence of development of the epidermis, and even though it can compromise any area of the body, it usually affects the scalp and it can be extended to the underlying tissues. We present a particular case due to the lesion size. It includes treatment description and follow-up.

A Aplasia Congênita da Cútis é uma patologia rara caracterizada pela ausência de desenvolvimento das epidermes, e embora possa se localizar em diferentes áreas do corpo, acomete principalmente o couro cabeludo e pode se espalhar para os tecidos subjacentes. Apresentamos aqui um caso clínico que se destaca pela extensão da lesão. Incluímos a descrição do tratamento e acompanhamento do paciente.

[A child with a bald spot on her scalp]. / Een baby met een kale plek op het hoofd.

A 6-month-old girl with an isolated bald spot was seen at the general practice. We diagnosed aplasia cutis congenita, a rare disorder with a wide variation in clinical symptoms. Most lesions can be managed conservatively. Larger defects, however, require surgery.

Digital Implant Planning in Patients with Ectodermal Dysplasia: Clinical Report.

Ectodermal dysplasia may severely affect the development of jaw growth and facial appearance. This case report describes the treatment of two patients suffering from ectodermal dysplasia, both treated with dental implant-fixed restorations by means of computer-guided surgery. Two patients presented to our clinic with congenital malformation of the jaw as a manifestation of ectodermal dysplasia, showing oligodontia and alveolar ridge deficit. Clinical examination revealed multiple unattached teeth and a need for prosthetic therapy. For both cases, dental implants were placed based on a computer-guided planning. A surgical guide was used to determine the positioning of the dental implants according to the prosthetic planning, which allowed for a satisfactory aesthetic and functional outcome. Computer-guided implant placement allowed predictable treatment of complex cases with satisfactory aesthetic and functional results. Adequate surgical and prosthetic planning is considered critical for treatment success.

Case Report: Anesthesia for a Neonate With Cutis Aplasia.

Cutis aplasia is a rare condition characterized by skin and subcutaneous tissue defects. Researchers have previously described both conservative and surgical management methods. We report herein the case of a neonate with extensive cutis aplasia involving 37% of the total body surface area. Due to the risk of meningitis and catastrophic hemorrhage associated with scalp defects, she underwent staged surgical procedures with skin harvesting and synthetic skin application, followed by the application of cultured epithelial autografts. This report highlights the challenges in temperature and fluid management as well as intraoperative positioning in a neonate with cutis aplasia.

Implant restoration of hypodontia resulting from ectodermal dysplasia: a case report.

BACKGROUND: Ectodermal dysplasia is a congenital genetic disorder with a prevalence of 1:10,000 to 1:100,000. The clinical features of ectodermal dysplasia include sparse hair, missing teeth, and abnormal development of the skin, sweat glands, and other tissues and organs. Since 1985, dentists have used implants to correct tooth defects in patients with ectodermal dysplasia with reasonable success rates. However, there is still no widely accepted treatment for the oral defects caused by this disease.Case summary: This report describes a 19-year-old female patient with congenital ectodermal dysplasia, congenital absence of most of her teeth, and mandibular and maxillary dysplasia. The patient and her family were concerned about the patient's growth and development, so she came to our hospital to restore her missing teeth. During several months of treatment, the patient underwent bone augmentation surgery for the maxilla and mandible, implant placement, a root repositioning flap, and free gingival grafting, which was completed in five stages. The patient completed the permanent implant restoration, and the desired results were achieved. CONCLUSION: The patient's mouth was restored through the use of bone augmentation and soft tissue grafting techniques, enabling appropriate function and appearance.

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.

Aplasia cutis congenita of both knees: A new therapeutic strategy.

Aplasia cutis congenita is defined as the absence of all layers of the skin. The condition involves mainly the scalp but it can affect any area of skin on the body. A clear therapeutic strategy is not available. Here, we describe the 6-year clinical outcome of a patient with aplasia cutis congenita of both knees following treatment with an artificial dermis and a thin skin graft.

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.

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.

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.