Congenital nail abnormalities.

Congenital nail disorders are an uncommon presenting symptom which can be difficult to diagnose and manage. Nail diseases in the pediatric population differ from those in adults in terms of diagnosis, approach and management. In most cases, they do not require treatment and resolve with growth. Physicians need to be able to recognize them, to reassure the parents. The most frequently encountered pathologies associated with nail disorder are syndactyly, acrosyndactyly, symbrachydactyly, macrodactyly, Wassel I thumb duplication, Kirner's deformity and congenital onychodysplasia of the index finger. Treatment usually consists in surgical correction of the deformity. Nail malformation can also be an aspect of a systemic disease. It may provide a clue for screening, and should not be overlooked. Nail conditions can be the first sign of nail-patella syndrome, ectodermal dysplasia, dyskeratosis congenita, epidermolysis bullosa, pachyonychia congenita or lung disease. Medical treatment is therefore discussed on a case-by-case basis.

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.

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.

Aplasia cutis congénita con encefalocele: a propósito de un caso clínico / Congenital aplasia cutis with encephalocele: clinical case study / Aplasia cútis congénita com encefalocele: relato de caso

La aplasia cutis es una rara alteración congénita caracterizada por la ausencia de piel, pudiendo llegar a estructuras más profundas: músculo, hueso y duramadre, como en el presente caso. Se localiza más frecuentemente en el cuero cabelludo, donde se asocia a un defecto óseo en el 20% de los casos. Recién nacido de sexo femenino, término, adecuado para la edad gestacional, vigoroso. Con diagnóstico prenatal a las 36 semanas de edad gestacional de encefalocele. Constatándose al nacimiento microcefalia, hipoplasia ósea y cutánea, encefalocele en línea media de cráneo. Se realizó manejo por equipo multidisciplinario, se practicaron varias intervenciones quirúrgicas, con buena evolución.

Aplasia Cutis is a rare congenital condition, defined by the absence of skin in a particular body region, it can also compromise muscle, bone and dura mater as shown in this case. It is mostly located on the scalp, where it is associated with a bone defect in 20% of cases. We will discuss the case of a female newborn, term gestation, vigorous at birth, with prenatal diagnosis of encephalocele at 36 weeks of gestational age. We observed microcephaly, bone and skin hypoplasia, encephalocele in the midline of the skull at birth. Several surgical interventions were carried out and the follow-up was made by a multidisciplinary team, with good evolution.

A Aplasia Cútis é uma alteração congênita rara, caracterizada pela ausência de pele, podendo atingir estruturas mais profundas: muscular, óssea e dura-máter, como neste caso. Localiza-se mais frequentemente no couro cabeludo, onde está associada a um defeito ósseo em 20% dos casos. É apresentado caso de recém-nascida do sexo feminino, a termo, adequada para idade gestacional, vigorosa. Com diagnóstico pré-natal às 36 semanas de idade gestacional de Encefalocele. Microcefalia, hipoplasia óssea e cutânea e encefalocele na linha média do crânio foram confirmadas ao nascimento. O manejo foi realizado por equipe multidisciplinar, diversas intervenções cirúrgicas, com boa evolução.

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.

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.

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 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.

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.

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.

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.