RESUMO
Congenital midline cervical cleft (CMCC) is a rare congenital difference. Accurate diagnosis is important to ensure appropriate treatment. CMCC results in both functional and esthetic concerns addressed by surgical management. While the majority of reported CMCC cases have been treated with a z-plasty, the best method of repair has been debated in the literature. The authors present a case of CMCC and review of the literature.
Assuntos
Procedimentos de Cirurgia Plástica , Anormalidades da Pele , Humanos , Estética Dentária , Pescoço/cirurgia , Pescoço/anormalidades , Anormalidades da Pele/cirurgiaRESUMO
INTRODUCTION: Congenital midline cervical cleft is a rare condition and is frequently misdiagnosed as thyroglossal duct cyst. Otherwise, the combination of congenital midline cervical cleft and thyroglossal duct fibrosis in the same patient is as rare as important to be registered with the intention to inform and offer specific managements details for the literature. CASE PRESENTATION: Eight-year-old boy with simultaneous congenital midline cervical cleft and a thyroglossal duct fibrosis. The anatomic, clinical, radiologic, and pathologic characteristics of the congenital midline cervical cleft are described as well as surgical technique for removal and repair with Z-plasty. CONCLUSION: Congenital midline cervical cleft is a rare condition and when diagnosed must be surgically treated as early as possible. Its differential diagnosis is a clinical challenge.
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Anormalidades Craniofaciais , Procedimentos de Cirurgia Plástica , Anormalidades da Pele , Cisto Tireoglosso , Masculino , Humanos , Criança , Pescoço/cirurgia , Anormalidades da Pele/cirurgia , Anormalidades Craniofaciais/cirurgia , Cisto Tireoglosso/diagnóstico , Cisto Tireoglosso/cirurgiaRESUMO
Webbed neck is a rare condition characterized by bilateral subcutaneous bands, which extend from approximately the mastoid to the acromion. Given its rarity, the literature lacks a review of the techniques used in the repair of this condition. We performed a scoping review to define and summarize the surgical techniques been used in the treatment of webbed neck, with the goal of better equipping the surgeons' armamentarium. Two databases, PubMed and Scopus, were searched from inception through December 27, 2021. Studies were considered for inclusion if they (1) described the webbed neck condition and (2) reported results of surgical correction of this condition. Surgical outcomes and follow-up durations were reported as available. Twenty-two manuscripts were analyzed and included data on 60 patients. The most common syndrome associated with webbed neck was Turner syndrome (48 patients). The most frequently documented procedure technique was a Z-Plasty (38 patients). Other procedures described included: butterfly correction, V-Y Plasty, posterior cervical lift, skin excision, tissue expansion plus skin excision, T to M rearrangement, and subcutaneous fascial excision. Documented complications included hypertrophy of procedure scars or webbed neck recurrence. In summary, we present the first full literature review of the surgical techniques used in the repair of webbed neck. When selecting the technique for repair of the webbed neck, function and cosmesis are important considerations. Future studies should collect standardized outcomes data to appropriately assess and compare the described procedures.
Assuntos
Anormalidades da Pele , Síndrome de Turner , Humanos , Pescoço/cirurgia , Anormalidades da Pele/cirurgia , Orelha/cirurgia , Síndrome de Turner/cirurgia , Expansão de TecidoRESUMO
Laser surgery is becoming an increasingly efficacious and customizable treatment modality for the management of pediatric vascular lesions. Proper use requires a thorough understanding of the scientific principles of laser surgery and knowledge of the various lasers available. Moreover, each laser has a multitude of settings that can be employed to properly target the lesion at hand. Each patient will present with unique challenges and variations in the presentation of their vascular lesion. This requires understanding of the most effective laser to use for each lesion and the factors that may alter the desired device settings. Using key search terms, a literature search was conducted on laser surgery for pediatric vascular lesions using PubMed/MEDLINE and Embase for articles published in English or French. Ultimately, 52 articles met our search criteria. The laser indications, limitations, and settings utilized for each type of vascular lesion were compiled for the purposes of this summative review. Laser surgery is an effective and appropriate option for the treatment of certain pediatric vascular lesions. Knowledge of optimal device parameters in every setting is essential to good clinical practice.
Assuntos
Terapia a Laser/instrumentação , Anormalidades da Pele/cirurgia , Pele/irrigação sanguínea , Pele/patologia , Criança , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Pele/efeitos da radiaçãoRESUMO
Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder characterized by a broad range of congenital malformations including craniosynostosis, cutis gyrata, facial deformities, and abnormal genitalia. The authors report a case of a 7 month old female who developed a mechanical ptosis secondary to dermatochalasis as a complication of fronto-orbital advancement and remodeling (FOAR) surgery which subsequently required multiple lid surgeries to reverse ptosis. This is the first report of blepharoptosis correction in a child with BSS as a complication of FOAR.
Assuntos
Acantose Nigricans/cirurgia , Blefaroptose/cirurgia , Craniossinostoses/cirurgia , Orelha/anormalidades , Dermatoses do Couro Cabeludo/cirurgia , Anormalidades da Pele/cirurgia , Acantose Nigricans/complicações , Blefaroptose/complicações , Craniossinostoses/complicações , Orelha/cirurgia , Feminino , Humanos , Lactente , Órbita , Dermatoses do Couro Cabeludo/complicações , Anormalidades da Pele/complicaçõesRESUMO
PURPOSE: There are different techniques for medial canthoplasty in blepharophimosis syndrome where individuals have epicanthus inversus and telecanthus leading to typical facial appearances. These methods have potential problems with scarring, epistaxis, and extrusion of metal plates. METHODS: The authors describe a novel technique of medial canthal reconstruction using titanium microplates with microscrew fixation to the anterior lacrimal crest, with effective, safe, and reproducible results. RESULTS: Seven children with blepharophimosis syndrome underwent medial canthus reconstruction surgery at a single center with the collaboration of a pediatric oculoplastic surgeon and craniofacial plastic surgeon to improve eye opening through correction of the lid contours and telecanthus. CONCLUSIONS: This is a safe, effective, and reproducible technique, with minimal morbidity and rapid postoperative recovery in children. It produces cosmetically acceptable scars and a strong stable reconstruction of the medial canthal insertion.
Assuntos
Blefarofimose/cirurgia , Blefaroplastia/métodos , Aparelho Lacrimal/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Anormalidades da Pele/cirurgia , Anormalidades Urogenitais/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: The aims of this study were to characterize the spinal deformity of patients with Escobar syndrome, describe results of growth-friendly treatments, and compare these results with those of an idiopathic early-onset scoliosis (EOS) cohort to determine whether the axial stiffness in Escobar syndrome limited correction. METHODS: We used 2 multicenter databases to review the records of 8 patients with EOS associated with Escobar syndrome who had at least 2-year follow-up after initiation of growth-friendly treatment from 1990 to 2016. An idiopathic EOS cohort of 16 patients matched for age at surgery (±1 y), postoperative follow-up (±1 y), and initial curve magnitude (±10 degrees) was identified. A randomized 1:2 matching algorithm was applied (α=0.05). RESULTS: In the Escobar group, spinal deformity involved 7 to 13 vertebrae and ranged from no vertebral anomalies in 3 patients to multiple segmentation defects in 6 patients. Mean age at first surgery was 5 years (range, 1.4 to 7.8 y) with a mean follow-up of 7.5 years (range, 4.0 to 10 y). Mean major curve improved from 76 degrees at initial presentation, to 43 degrees at first instrumentation, to 37 degrees at final follow-up (both P<0.001). Mean pelvic obliquity improved from 16 degrees (range, 5 to 31 degrees) preoperatively to 4 degrees (range, 0 to 8 degrees) at final follow-up (P=0.005). There were no differences in the mean percentage of major curve correction between the idiopathic EOS and Escobar groups at the immediate postoperative visit (P=0.743) or final follow-up (P=0.511). There were no differences between the cohorts in T1-S1 height at initial presentation (P=0.129) or in growth per month (P=0.211). CONCLUSIONS: Multiple congenital fusions and spinal curve deformity are common in Escobar syndrome. Despite large areas of congenital fusion, growth-friendly constructs facilitate spinal growth and improve curve correction. These results are comparable to those in idiopathic EOS. LEVEL OF EVIDENCE: Level III-case-control study.
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Anormalidades Múltiplas , Hipertermia Maligna , Procedimentos Ortopédicos/métodos , Pediatria/métodos , Anormalidades da Pele , Curvaturas da Coluna Vertebral , Anormalidades Múltiplas/cirurgia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Hipertermia Maligna/complicações , Hipertermia Maligna/cirurgia , Estudos Retrospectivos , Anormalidades da Pele/complicações , Anormalidades da Pele/cirurgia , Curvaturas da Coluna Vertebral/diagnóstico , Curvaturas da Coluna Vertebral/etiologia , Curvaturas da Coluna Vertebral/cirurgia , Resultado do TratamentoRESUMO
Pterygium colli is a congenital deformity associated with malformation syndromes. Various surgical procedures have been reported, but these procedures have advantages and disadvantages. The modified posterolateral approach has been reported as a new surgical procedure for pterygium colli. However, there has been no confirmatory report. In this study, a case of pterygium colli that was treated with the modified posterolateral approach was reported.An 11-year-old girl with Turner syndrome was referred with chief complaints of web neck deformity and an abnormal hairline. The modified posterolateral approach was selected. Hairy excessive skin was excised at the posterolateral and posterior neck. An inferior skin incision was made parallel to the hairline, and a superior skin incision was made along the desired hairline. Hairless excessive skin was excised along the posterior midline of the neck. Undermining was extended over the sternocleidomastoid muscle, and flaps were rotated upward and inward. Z-plasty was performed at the posterior midline of the neck to prevent hypertrophic scar formation. The web neck deformity disappeared, but the patient expressed concern for excessive skin at the posterior midline. Thus, secondary surgery was performed 12âmonths later. The operative scar was opened 2âmonths after secondary surgery owing to suture abscess, and the wound was closed directly. The web neck deformity had not recurred, and the natural hairline was maintained at 65âmonths after the primary surgery.The modified posterolateral approach is beneficial for pterygium colli, because it allows the correction of the web neck deformity and abnormal hairline without a noticeable scar.
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Procedimentos Cirúrgicos Dermatológicos/métodos , Pescoço/anormalidades , Pescoço/cirurgia , Anormalidades da Pele/cirurgia , Retalhos Cirúrgicos , Criança , Feminino , Humanos , Anormalidades da Pele/diagnóstico , SuturasRESUMO
PURPOSE: Posterior calvarial vault expansion using distraction osteogenesis is performed for syndromic craniosynostosis as the first choice. This procedure allows far greater intracranial volume than fronto-orbital advancement (FOA). This study aimed to determine the most suitable timing of posterior distraction or FOA to sufficiently increase the intracranial volume and remodel the skull shape. PATIENTS AND METHODS: From 2014 to 2017, the authors performed posterior distraction in 13 patients with syndromic craniosynostosis. Data on premature suture fusion, age at first visit, age at surgery, skull thickness, and complications were collected. RESULTS: Five patients underwent posterior distraction at approximately 12 months of age and had no complications, including cerebrospinal fluid leakage or gull wing deformity. However, during the waiting period for the operation, the skull deformity continues to extend upward (turribrachycephaly). To prevent progress of the skull deformity, the authors performed the operation at approximately 6 months of age in 7 patients. However, in 3 of 7 patients whose lambdoid sutures were opening, gull wing deformity occurred. From these results, in a patient with severe Beare-Stevenson syndrome, the authors performed FOA first at 5 months of age, followed by posterior distraction at 12 months of age, and achieved favorable results. CONCLUSIONS: Treatment patterns are patient specific and should be tailored to premature suture fusion, specific skull deformity, and required intracranial volume of each patient.
Assuntos
Craniossinostoses/cirurgia , Osteogênese por Distração/métodos , Acantose Nigricans/complicações , Acantose Nigricans/diagnóstico por imagem , Acantose Nigricans/cirurgia , Craniossinostoses/complicações , Craniossinostoses/diagnóstico por imagem , Orelha/anormalidades , Orelha/diagnóstico por imagem , Orelha/cirurgia , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Dermatoses do Couro Cabeludo/complicações , Dermatoses do Couro Cabeludo/diagnóstico por imagem , Dermatoses do Couro Cabeludo/cirurgia , Anormalidades da Pele/complicações , Anormalidades da Pele/diagnóstico por imagem , Anormalidades da Pele/cirurgia , Resultado do TratamentoRESUMO
This case report intends to provide the facial characteristics of Escobar syndrome and to describe the orthodontic treatment of a 12-year-old female patient diagnosed with it. Escobar syndrome, a variant of the multiple pterygium syndrome, is a rare disorder with many systemic, facial, and oral manifestations.The patient presented with mixed dentition, severe dolichofacial pattern, increased lower facial height, convex profile, severe anterior open bite, maxillary hypoplasia, and mandibular retrognatism. The multidisciplinary approach included soft cleft palate repair, orthodontic treatment, orthognathic surgery, restorative cosmetic dentistry, speech therapy, and physiotherapy. Despite the limitations imposed by the syndrome, this report illustrates how the multidisciplinary treatment approach aided in the correction of occlusal function and facial esthetics and improvement in the quality of life of the patient with Escobar syndrome.
Assuntos
Anormalidades Múltiplas , Fissura Palatina , Hipertermia Maligna , Qualidade de Vida , Anormalidades da Pele , Anormalidades Múltiplas/cirurgia , Criança , Fissura Palatina/cirurgia , Estética Dentária , Feminino , Seguimentos , Humanos , Hipertermia Maligna/cirurgia , Aparelhos Ortodônticos , Anormalidades da Pele/cirurgiaRESUMO
PURPOSE: The term limited dorsal myeloschisis (LDM) was used by Pang et al. (2010) to describe a distinct clinicopathological entity. LDMs are characterized by two invariable features: a focal-closed neural tube defect and a fibroneural stalk that links the skin lesion to the underlying spinal cord. METHODS: We retrospectively analyzed the neurosurgical pathologic findings of four LDM patients. RESULTS: Case 1 had a saccular skin lesion with nonterminal abortive myelocystocele at T11-12. Cases 2, 3, and 4 had a non-saccular (flat) skin lesion in the lumbosacral region. The morphologic features of the lesion in case 2 were those of meningocele manque. Cases 3 and 4 had accompanying non-LDM anomalies, caudal-type lipoma and type II split-cord malformation with neurenteric cyst, respectively. At preoperative diagnosis of the LDM stalk, magnetic resonance imaging, including 3D heavily T2-weighted image was useful; however, minute findings were often missed in the complicated cases 3 and 4. All patients had a favorable outcome following untethering of the stalk from the cord. The central histopathological feature of the LDM stalk is neuroglial tissue in the fibrocollagenous band; however, the stalk in cases 2 and 4 did not have glial fibrillary acidic protein-immunopositive neuroglial tissues. CONCLUSIONS: Therefore, the diagnosis of LDM should be made based on comprehensive evaluation of histologic and clinical findings.
Assuntos
Defeitos do Tubo Neural/patologia , Defeitos do Tubo Neural/cirurgia , Procedimentos Neurocirúrgicos , Anormalidades da Pele/patologia , Anormalidades da Pele/cirurgia , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Procedimentos Neurocirúrgicos/métodos , Estudos RetrospectivosRESUMO
Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis of Barber-Say syndrome. Surgical treatment of the patient's eyelids resolved her signs and symptoms.
Assuntos
Doenças Palpebrais/genética , Hirsutismo/genética , Hipertelorismo/genética , Hipertricose/genética , Macrostomia/genética , Mutação , Proteínas Repressoras/genética , Anormalidades da Pele/genética , Proteína 1 Relacionada a Twist/genética , Pré-Escolar , Análise Mutacional de DNA , Doenças Palpebrais/cirurgia , Pálpebras/cirurgia , Feminino , Hirsutismo/cirurgia , Humanos , Hipertelorismo/cirurgia , Hipertricose/cirurgia , Macrostomia/cirurgia , Anormalidades da Pele/cirurgia , Transplante de Pele/métodos , Resultado do TratamentoRESUMO
PURPOSE: An accessory skin appendage of the nasal columella and nostril sill is an extremely rare congenital anatomical malformation; only a single case has been reported in the literature. However, no pathophysiology has been proposed. The purpose of this study is to present a review of the anatomical distribution of accessory skin appendages and provide a comprehensive review of their pathophysiology based on embryological development. METHODS: We present four cases of a protruding skin appendage of the nasal columella or nostril sill. All lesions were present from birth with no family history of skin appendages. Three patients underwent surgical excision under local anesthesia. RESULTS: The lesions were located at the upper and lower lateral borders of the nasal columella and the medial and lateral borders of the nostril sill. There has been no sign of recurrence over a mean follow-up of 11 months. CONCLUSIONS: Any obstacle or injury during the migration process of embryonic development may result in maldevelopment. If an obstacle or injury occurs during the medial migration of the medial nasal process, congenital polypoid remnant tissue may remain along the migration route, resulting in an accessory skin appendage of the nasal columella. The location of the accessory columellas ranged from the nostril sill to the soft triangle along the anterior border of the medial crus of the alar cartilage. These anatomical distributions correspond exactly to the migration route of the medial nasal process during embryonic development. We believe that it supports our suggested pathophysiology.
Assuntos
Variação Anatômica , Septo Nasal/anormalidades , Anormalidades da Pele/etiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Septo Nasal/cirurgia , Anormalidades da Pele/cirurgiaRESUMO
Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum of gastrointestinal malformations in this rare disorder. A 41-week, 4,165 g, female presented with craniosynostosis, pre-axial polysyndactyly, and cutaneous findings consistent with a clinical diagnosis of CJS. The infant developed abdominal distension beginning on the second day of life. Surgical exploration revealed an intestinal malrotation for which she underwent a Ladd procedure. Multiple small nodules were found on the surface of the small and large bowel in addition to an apparent intestinal duplication that seemed to originate posterior to the pancreas. Histopathology of serosal nodules revealed bundles of smooth muscle with associated ganglion cells. Molecular analysis demonstrated the SMO c.1234 C>T mutation in varying amounts in affected skin (up to 35%) and intestinal hamartoma (26%). Gastrointestinal features including structural malformations, motility disorders, and upper GI bleeding are major causes of morbidity in CJS. Smooth muscle hamartomas are a recognized feature of children with CJS typically presenting with abdominal obstruction requiring surgical intervention. A somatic mutation in SMO likely accounts for the structural malformations and predisposition to form bowel hamartomas and myofibromas. The mutation burden in the involved tissues likely accounts for the variable manifestations.
Assuntos
Anormalidades Craniofaciais/fisiopatologia , Gastroenteropatias/fisiopatologia , Intestinos/anormalidades , Anormalidades da Pele/fisiopatologia , Receptor Smoothened/genética , Sindactilia/fisiopatologia , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/cirurgia , Craniossinostoses/complicações , Craniossinostoses/genética , Craniossinostoses/fisiopatologia , Feminino , Gastroenteropatias/complicações , Gastroenteropatias/genética , Gastroenteropatias/cirurgia , Humanos , Lactente , Intestinos/fisiopatologia , Intestinos/cirurgia , Mutação , Anormalidades da Pele/complicações , Anormalidades da Pele/genética , Anormalidades da Pele/cirurgia , Sindactilia/complicações , Sindactilia/genética , Sindactilia/cirurgiaRESUMO
INTRODUCTION: Webbed neck deformity (WND) can have significant functional and psychosocial impact on the developing child. Surgical correction can be challenging depending on the extent of the deformity, and patients often also have low posterior hairlines requiring simultaneous correction. Current surgical techniques include various methods of single-stage radical excision that often result in visible scar burden and residual deformity. There is currently no general consensus of which technique provides the best outcomes. METHODS: A modified approach to WND was designed by the senior author aimed to decrease scar burden. Endoscopic-assisted fasciectomy was performed with simultaneous posterior hairline reconstruction with local tissue rearrangement camouflaged within the hair-bearing scalp. Staged surgical correction was planned rather than correction in a single operation. A retrospective review was performed to evaluate all patients who underwent this approach over a 2-year period. RESULTS: Two patients underwent the modified approach, a 17-year-old female with Noonan syndrome and a 2-year-old female with Turner syndrome. Both patients showed postoperative improvement in range of motion, contour of the jaw and neckline, and posterior hairline definition. Patients were found to have decreased scar burden compared with traditional techniques. DISCUSSION: A staged, combination approach of endoscopic-assisted fasciectomy and strategic local tissue reconstruction of the posterior hairline to correct WND achieves good functional and aesthetic results and good patient satisfaction. This modification should be considered when managing WND.
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Fasciotomia/métodos , Pescoço/anormalidades , Pescoço/cirurgia , Anormalidades da Pele/cirurgia , Adolescente , Pré-Escolar , Endoscopia , Feminino , Humanos , Síndrome de Noonan/cirurgia , Amplitude de Movimento Articular , Estudos Retrospectivos , Couro Cabeludo/cirurgia , Síndrome de Turner/cirurgiaRESUMO
INTRODUCTION: Tissue expansion is a plastic surgery technique which enables optimal quality and skin surface reconstruction in case of soft tissue defect. Despite the good results obtained, both from a functional and aesthetic point of view, there is a high rate of complications whose management seems to be essential to ensure satisfactory results. PATIENTS AND METHODS: We retrospectively reviewed the medical files of 45 children treated in our department between 2002 and 2012: 73 expanders were placed during 51 protocols. RESULTS: The studied protocols gathered a large variety of situations. Varied pathologies were treated: burn sequelae (39 %), giant congenital naevus (GCN) (27 %), scars (20 %), hamartoms (8 %), cutis aplasia (6 %), as well as diverse sites: scalp (45 %), trunk (35 %), head and neck (8 %), lower extremity (8 %), upper extremity (4 %). Complications occurred in 17 protocols representing 26 % of total expanders. GCN is a pathology with a significantly lower complication rate (P=0.013) whereas trunk is an anatomical location with a significantly higher complication rate (P=0.026). Overall, 84 % of reconstructions were evaluated as having a good result. This rate reached 76 % for complicated protocols. CONCLUSION: Tissue expansion in paediatric patients remains an efficient therapy in order to achieve a satisfactory reconstruction. Despite a high complication rate, good results can be obtained even in those complicated cases as long as they are well managed and anticipated. We also think that specific paediatric material would help to reduce supervention of some complications.
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Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/terapia , Anormalidades da Pele/cirurgia , Dermatopatias/cirurgia , Pele/lesões , Expansão de Tecido/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Transplante de Pele/métodos , Retalhos Cirúrgicos/cirurgiaRESUMO
OBJECTIVE: Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure. The distinction between the two forms is critical for female patients, as it may allow to predict fertility and to plan an appropriate therapy. Identifying an underlying causative mutation is not always predictive of the clinical type of BPES since genotype-phenotype correlations are not yet fully delineated. Here, we describe the clinical and hormonal phenotypes of three female patients with BPES type 1 from two novel families, correlate their phenotypes with identified mutations, and investigate the effects of hormone replacement therapy (HRT). METHODS: Clinical, biochemical, and genetic evaluation were undertaken in all the patients and genotype-phenotype correlation was analyzed. The effects of substitutive hormonal therapy on secondary sexual characteristics development and induction of menarche were evaluated. RESULTS: All patients presented with primary amenorrhea or other signs of ovarian dysfunction. Two distinct mutations, a missense p.H104R change and an in-frame p.A222_A231dup10 duplication in the FOXL2 gene were identified. Observed phenotypes were not in accordance with the prediction based on the current genotype-phenotype correlations. HRT significantly improved secondary sexual characteristics development, as well as the induction of menarche. CONCLUSIONS: This study highlights the importance of early recognition of BPES and emphasizes the need of personalized therapy and follow-up in female patients carrying distinct FOXL2 mutations.
Assuntos
Amenorreia/etiologia , Blefarofimose/genética , Fatores de Transcrição Forkhead/genética , Duplicação Gênica , Mutação de Sentido Incorreto , Ovário/fisiopatologia , Insuficiência Ovariana Primária/etiologia , Anormalidades da Pele/genética , Anormalidades Urogenitais/genética , Adulto , Amenorreia/prevenção & controle , Substituição de Aminoácidos , Blefarofimose/tratamento farmacológico , Blefarofimose/fisiopatologia , Blefarofimose/cirurgia , Terapia Combinada , Análise Mutacional de DNA , Pálpebras/anormalidades , Feminino , Proteína Forkhead Box L2 , Estudos de Associação Genética , Terapia de Reposição Hormonal , Humanos , Itália , Menarca/efeitos dos fármacos , Ovário/efeitos dos fármacos , Linhagem , Insuficiência Ovariana Primária/prevenção & controle , Anormalidades da Pele/tratamento farmacológico , Anormalidades da Pele/fisiopatologia , Anormalidades da Pele/cirurgia , Anormalidades Urogenitais/tratamento farmacológico , Anormalidades Urogenitais/fisiopatologia , Anormalidades Urogenitais/cirurgia , Adulto JovemRESUMO
The aim of surgery for pterygium colli (PC) is to correct the contour deformity, redistribute or remove the horizontal excess of skin, address the abnormal posterior hairline, avoid excessive scarring, and prevent recurrence. The purpose of this study is to review the available methods to correct the deformity and highlight a recent patient performed by the senior author. A modified bilateral Z-plasty technique was used for correcting PC on a 5-year-old African American girl diagnosed with Turner syndrome. The patient had an uneventful postoperative period and satisfactory functional and esthetic results were demonstrated at 1 year follow-up. The approach used was a variation of a lateral approach. Using the proposed approach, excision and complete release of the scar contracture and less tension, which reduces the rate of recurrence compared with the posterior approaches, is achieved. Moreover, the current technique avoids myotomies, which can put the spinal accessory nerve at risk, and lateral Z-plasties which the authors find unnecessary. Instead, the advancement of each anterior flap is limited in the posterosuperior direction so that the flaps do not meet in the posterior midline. This limits the pull and tension on the entire closure. Although several techniques have been described over the years, the search for the ideal type of surgical treatment is still ongoing.
Assuntos
Pescoço/anormalidades , Pescoço/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Anormalidades da Pele/cirurgia , Retalhos Cirúrgicos , Síndrome de Turner/cirurgia , Pré-Escolar , Feminino , Humanos , Anormalidades da Pele/diagnóstico , Síndrome de Turner/diagnósticoRESUMO
Twelve previously unreported cases of nevus comedonicus are presented. Characteristic closely grouped dilated follicular openings with horny plugs that mimic comedones led to the diagnosis. One patient had nevus comedonicus syndrome and there were cases with atypical locations and unusual complications of this condition. We also highlight clinical associations and therapeutic options.
Assuntos
Nevo Intradérmico/epidemiologia , Nevo Intradérmico/patologia , Anormalidades da Pele/epidemiologia , Anormalidades da Pele/patologia , Dermatopatias Papuloescamosas/epidemiologia , Dermatopatias Papuloescamosas/patologia , Adolescente , Argentina , Biópsia por Agulha , Criança , Feminino , Humanos , Imuno-Histoquímica , Incidência , Masculino , Nevo Intradérmico/cirurgia , Prognóstico , Estudos Retrospectivos , Medição de Risco , Estudos de Amostragem , Anormalidades da Pele/cirurgia , Dermatopatias Papuloescamosas/cirurgiaRESUMO
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant condition characterized by typical eyelid malformations that include blepharophimosis, ptosis, epicanthus inversus, and telecanthus. METHODS: We retrospectively reviewed 125 consecutive BPES patients who underwent staged surgical intervention from July 2003 to December 2011. All patients underwent initial medial and lateral canthoplasties, followed by blephroptosis correction 6 to 12 months afterward. The parameters that were studied included horizontal palpebral fissure length (PFL), vertical interpalpebral fissure height, inner intercanthal distance (IICD), the ratio of IICD to PFL, and frontalis function (FF). Facial photographs were taken preoperatively and postoperatively. Paired and group t tests were used for statistical analysis to evaluate surgical outcomes. RESULTS: After consecutive operations, the mean PFL increased from 19.5 to 25.7 mm (mean difference, 6.2 mm; P < 0.01). The mean interpalpebral fissure height increased from 3.4 to 8.5 mm (mean difference, 5.1 mm; P < 0.01). The mean IICD decreased from 38.0 to 30.9 mm (mean difference, 7.1 mm; P < 0.01). The mean FF was 7.3 mm for BPES patients approximately 5 years old and 10.4 mm for patients approximately 7 years old. There was no difference between children who underwent muscle flap suspension and healthy children of the same age (P > 0.05). CONCLUSIONS: The modified staged surgical intervention, including Y-V flap, von Ammon, and frontalis muscle flap suspension, provided effective results both in function and cosmesis for BPES. The FF was not weakened by surgery.