O dermoide de córnea ligado ao X (X-CND) é um tumor da córnea extremamente raro, benigno e presente desde o nascimento. Ele se caracteriza por deixar a córnea turva nos dois olhos, com camadas superficiais acinzentadas e placas esbranquiçadas irregulares e salientes. Também há vasinhos de sangue cobrindo a parte central da córnea, enquanto as bordas externas da córnea permanecem normais. Nenhuma outra alteração nos olhos ou no corpo é observada. O padrão de como a doença é passada na família afetada sugere que ela é transmitida através do cromossomo X.
Introdução
O que você precisa saber de cara
O dermoide de córnea ligado ao X (X-CND) é um tumor da córnea extremamente raro, benigno e presente desde o nascimento. Ele se caracteriza por deixar a córnea turva nos dois olhos, com camadas superficiais acinzentadas e placas esbranquiçadas irregulares e salientes. Também há vasinhos de sangue cobrindo a parte central da córnea, enquanto as bordas externas da córnea permanecem normais. Nenhuma outra alteração nos olhos ou no corpo é observada. O padrão de como a doença é passada na família afetada sugere que ela é transmitida através do cromossomo X.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 6 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Dermoide da córnea ligado ao X
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Treatment of Corneal Dermoid with Fibrin Glue Boned Multi-Layer Lenticules from Small Incision Lenticules Extraction Surgery: A Preliminary Study of Five Patients.
Dermoid excision combined with lamellar keratoplasty was one of the most common surgical techniques for corneal dermoid. Due to the huge shortage of corneal donors, small incision lenticule extraction (SMILE) derived lenticules might be the novel and feasible corneal grafts instead of traditional corneal donors. Therefore, we tried to use FG boned multi-layer lenticules as grafts in the treatment of corneal dermoid. Five patients (the oldest patient was 54 years old and the youngest case was 5 years old) were diagnosed with corneal dermoid and complaining of blurred vision or unsatisfied cosmetic appearance. All patients underwent corneal dermoid excision combined with FG boned multi-layer corneal lenticules transplantation. Slit-lamp microscopy and anterior-segmental optical coherence tomography(AS-OCT)were used to observe ocular appearance, corneal grafts survival, epithelialization, transparency, interlamellar fluid accumulation and the degradation of FG. The preoperative and postoperative change of best-corrected visual acuity (BCVA) and astigmatism were respectively recorded. All patients were satisfied with the postoperative cosmetic results. BCVA had been increased and astigmatism had been decreased in all cases. We observed that the FG boned multi-layer corneal lenticules were covered with smooth corneal epithelium in one week after transplantation and successfully adhered to the corneal beds, without any dislocation or interlayer separation. FG was gradually degraded and absorbed within 1 month after surgery. The lenticule grafts grew well without rejection and kept transparency during the follow-up period. FG boned multi-layer lenticules would be the novel and feasible substitute for lamellar keratoplasty in the treatment of corneal dermoid. FG could not be only used as binder adhering multi-layer lenticules, closing the interlayer space of multi-layer lenticules, preventing the formation of interlayer fluid, but also increasing the thickness and toughness of lenticules, and therefore which is more facilitate to intraoperative suture.
Bilateral corneal dermoids associated with bilateral choroido-scleral colobomas in a cat: retinographic and optical coherence tomography study with surgical outcome and follow-up.
To report a case of feline bilateral corneal dermoids, associated with unilateral iris coloboma and bilateral choroido-scleral colobomas in the same dorsolateral position, to describe retinographic and optical coherence tomography (OCT) characteristics, surgical outcome, and follow-up. A 9-month-old domestic shorthaired cat in which a full ophthalmoscopic examination was performed for evaluation of dermoids resulting in a diagnosis of associated iris coloboma in one eye and posterior colobomas in both eyes. Retinographies and OCT were performed under anesthesia to characterize the lesions of both fundi and allow surgical excision of the corneal dermoids. Ophthalmoscopy and retinographies revealed oval lesions in the dorsolateral fundi of both eyes. The lesions precisely mirrored their respective dermoids' (10-11 h OD and 1-2 h OS) clock positions, lacked a tapetum lucidum and choroidal vessels, and featured thin retinal vessels plunging to a posterior plane of the fundus. OCT crossline scans demonstrated preservation of retinal thickness and morphological layering in the fundic colobomas leading to the conclusion that the colobomas were purely choroido-scleral. The outcome of the surgical excision of the dermoids was satisfactory without hair recurrence and with acceptable corneal clarity making it possible to visualize the unilateral associated iris coloboma. Follow-ups did not reveal any fundic evolution nor retinal detachment. Retinographies and OCT made possible the characterization of choroido-scleral colobomas associated with corneal dermoids in this first reported case in a cat. We hypothesize that the recently described superior ocular sulcus might be the embryological link between these anomalies.
Spontaneous Partial Regression of Bilateral Grade III Corneal Dermoids Associated With Fetal Valproate Spectrum Disorder.
The purpose of this study was to describe a rare case of a child with bilateral central corneal dermoids (grade III) in association with fetal valproate spectrum disorder (FVSD) and to report the spontaneous regression of these tumors. Clinical records of a 14-month-old child whose mother took sodium valproate all along her pregnancy were retrospectively reviewed. The diagnosis of FVSD was made based on phenotypic features and associated congenital malformations. Facial features included trigonocephaly, flat nose bridge and small upturned nose, cleft palate and lip, and micrognathia. Systemic anomalies included bilateral radial defects and club hands, pes equinovarus, hypospadias, secundum atrial septal defect, patent ductus arteriosus, and aortic insufficiency. Cytogenetic studies were normal. Ocular findings included bilateral central corneal dermoids sparing the limbus and peripheral cornea, bilateral aphakia, absence of left anterior chamber, and bilateral mass-like vitreal opacities. A computed tomography scan suggested minimal left microphthalmia. Owing to the high-risk category for general anesthesia and prioritization of other severe systemic anomalies, no ocular surgical intervention was performed. Over 5 years of follow-up, spontaneous partial regression of the corneal tumors was observed. The development of bilateral grade III corneal dermoids in a child with FVSD may be more than fortuitous and enlarges the list of ocular anomalies associated with FVSD. Corneal dermoids may regress spontaneously.
Acellular Porcine Corneal Stroma May Not Be Optimal for Peripheral Keratoplasty: Reports of 2 Cases.
Although acellular porcine corneal stroma (APCS) is a promising alternative to the human donor cornea for lamellar keratoplasty, here, we report 2 patients who exhibited persistent epithelial defects and sterile keratolysis after APCS transplantation to treat peripheral corneal diseases. Two patients with different peripheral corneal diseases underwent lamellar keratoplasty by using D-shaped lamellar APCS as graft materials. Standard keratoplasty postoperative treatments, including topical antibiotic-corticosteroid, tacrolimus, and artificial tears, were applied. Patient 1 was a 7-year-old boy with limbal dermoid, and patient 2 was a 50-year-old man suffered from simultaneous Mooren ulcer with pterygium. Both patients developed persistent graft epithelial defects postoperatively, which were refractory to conventional nonsurgical therapies. The APCS grafts were noted to start sterile keratolysis at approximately 1 month after implantation and were completely dissolved within 3 months, leaving vascularized scars in the previously grafted area. These 2 cases demonstrated that given the high risk of postoperative persistent epithelial defect and sterile keratolysis, the application of APCS in peripheral keratoplasty may need further evaluation.
Geometric Profiling of Corneal Limbal Dermoids for the Prediction of Surgical Outcomes.
To search for novel geometric parameters for corneal limbal dermoids that enable the prediction of clinical and surgical outcomes. We reviewed the medical records and anterior segment photographs of 85 eyes of 85 patients with corneal limbal dermoids that had been surgically excised. Patients were assigned to the following 4 cohorts (multiple assignments allowed): postoperative visual acuity (cohort 1, n = 65), amblyopia (cohort 2, n = 67), postoperative scar formation (cohort 3, n = 51), and preoperative spontaneous progression of dermoids (cohort 4, n = 39). For geometric profiling, 11 geometric parameters of lesions, including orientation, angular width, and 9 ratio parameters, were preoperatively defined in each patient based on the digital anterior-segment photographs. Each geometric parameter and demographic variable were analyzed for correlation with postoperative outcomes (cohorts 1-3) and preoperative spontaneous dermoid progression (cohort 4). The mean patient age at surgery was 6.0 ± 6.3 years. Among the geometric and demographic parameters analyzed, the invaded angular axis of dermoid to corneal diameter ratio had the highest r coefficient (r = 0.728) in cohort 1 and best stratified patients in cohort 2 (cutoff > 0.48) and cohort 3 (cutoff > 0.56). No parameters were correlated with spontaneous dermoid progression in cohort 4. We devised geometric parameters to evaluate corneal limbal dermoids before surgery for the prediction of surgical outcomes. The invaded angular axis of dermoid to corneal diameter ratio value was the most significant factor associated with postoperative visual acuity, amblyopia development, and postoperative scarring.
Publicações recentes
Ver todas no PubMed📚 EuropePMCmostrando 12
Treatment of Corneal Dermoid with Fibrin Glue Boned Multi-Layer Lenticules from Small Incision Lenticules Extraction Surgery: A Preliminary Study of Five Patients.
Current eye researchBilateral corneal dermoids associated with bilateral choroido-scleral colobomas in a cat: retinographic and optical coherence tomography study with surgical outcome and follow-up.
Veterinary ophthalmologySpontaneous Partial Regression of Bilateral Grade III Corneal Dermoids Associated With Fetal Valproate Spectrum Disorder.
CorneaAcellular Porcine Corneal Stroma May Not Be Optimal for Peripheral Keratoplasty: Reports of 2 Cases.
CorneaGeometric Profiling of Corneal Limbal Dermoids for the Prediction of Surgical Outcomes.
CorneaProgressive large pediatric corneal limbal dermoid management with tissue glue-assisted monolayer amniotic membrane transplantation: A case report.
MedicineMicrophthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat.
Journal of the American Veterinary Medical AssociationOphthalmic abnormalities of Pai syndrome: A case report and review of literature.
Ophthalmic geneticsSutureless Lamellar Corneoscleral Patch Graft With Fibrin Sealant for Limbal Dermoid Removal.
Journal of pediatric ophthalmology and strabismus"Mommy, Why Is There a Big White Thing on My Eye?".
Journal of pediatric ophthalmology and strabismusConservative Surgical Management of a Grade III Corneal Dermoid.
CorneaOculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.
American journal of medical genetics. Part AAssociações
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Treatment of Corneal Dermoid with Fibrin Glue Boned Multi-Layer Lenticules from Small Incision Lenticules Extraction Surgery: A Preliminary Study of Five Patients.
- Bilateral corneal dermoids associated with bilateral choroido-scleral colobomas in a cat: retinographic and optical coherence tomography study with surgical outcome and follow-up.
- Spontaneous Partial Regression of Bilateral Grade III Corneal Dermoids Associated With Fetal Valproate Spectrum Disorder.
- Acellular Porcine Corneal Stroma May Not Be Optimal for Peripheral Keratoplasty: Reports of 2 Cases.
- Geometric Profiling of Corneal Limbal Dermoids for the Prediction of Surgical Outcomes.
- Corneal cross-linking-induced stromal demarcation line.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1661(Orphanet)
- OMIM OMIM:304730(OMIM)
- MONDO:0010579(MONDO)
- GARD:2580(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782546(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
