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Dermoide da córnea ligado ao X
ORPHA:1661CID-10 · Q13.4CID-11 · 2F36.YOMIM 304730DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
1 artigos
Último publicado: 2006 Oct

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
6
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q13.4
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

90%prev.
Opacidade corneana
Muito frequente (99-80%)
90%prev.
Deficiência visual
Muito frequente (99-80%)
55%prev.
Morfologia anormal da pupila
Frequente (79-30%)
17%prev.
Perda visual
Ocasional (29-5%)
Anormalidade do olho
Herança ligada ao X
6sintomas
Muito frequente (2)
Frequente (1)
Ocasional (1)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 6 características clínicas mais associadas, ordenadas por frequência.

Opacidade corneanaCorneal opacity
Muito frequente (99-80%)90%
Deficiência visualVisual impairment
Muito frequente (99-80%)90%
Morfologia anormal da pupilaAbnormal pupil morphology
Frequente (79-30%)55%
Perda visualVisual loss
Ocasional (29-5%)17%
Anormalidade do olhoAbnormality of the eye

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico1PubMed
Últimos 10 anos12publicações
Pico20153 papers
Linha do tempo
2025Hoje · 2026📈 2015Ano de pico
Publicações por ano (últimos 10 anos)

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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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Dermoide da córnea ligado ao X

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

🥈Melhor nível de evidência: Coorte
Timeline de publicações
0 papers (10 anos)
#1

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 research2025 Feb

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.

#2

Bilateral corneal dermoids associated with bilateral choroido-scleral colobomas in a cat: retinographic and optical coherence tomography study with surgical outcome and follow-up.

Veterinary ophthalmology2023 Jul

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.

#3

Spontaneous Partial Regression of Bilateral Grade III Corneal Dermoids Associated With Fetal Valproate Spectrum Disorder.

Cornea2022 Sep 01

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.

#4

Acellular Porcine Corneal Stroma May Not Be Optimal for Peripheral Keratoplasty: Reports of 2 Cases.

Cornea2021 Apr

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.

#5

Geometric Profiling of Corneal Limbal Dermoids for the Prediction of Surgical Outcomes.

Cornea2020 Oct

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

2025

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 research
2023

Bilateral corneal dermoids associated with bilateral choroido-scleral colobomas in a cat: retinographic and optical coherence tomography study with surgical outcome and follow-up.

Veterinary ophthalmology
2022

Spontaneous Partial Regression of Bilateral Grade III Corneal Dermoids Associated With Fetal Valproate Spectrum Disorder.

Cornea
2021

Acellular Porcine Corneal Stroma May Not Be Optimal for Peripheral Keratoplasty: Reports of 2 Cases.

Cornea
2020

Geometric Profiling of Corneal Limbal Dermoids for the Prediction of Surgical Outcomes.

Cornea
2018

Progressive large pediatric corneal limbal dermoid management with tissue glue-assisted monolayer amniotic membrane transplantation: A case report.

Medicine
2018

Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat.

Journal of the American Veterinary Medical Association
2018

Ophthalmic abnormalities of Pai syndrome: A case report and review of literature.

Ophthalmic genetics
2016

Sutureless Lamellar Corneoscleral Patch Graft With Fibrin Sealant for Limbal Dermoid Removal.

Journal of pediatric ophthalmology and strabismus
2015

"Mommy, Why Is There a Big White Thing on My Eye?".

Journal of pediatric ophthalmology and strabismus
2015

Conservative Surgical Management of a Grade III Corneal Dermoid.

Cornea
2015

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.

American journal of medical genetics. Part A

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. 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 research· 2025· PMID 39229665mais citado
  2. Bilateral corneal dermoids associated with bilateral choroido-scleral colobomas in a cat: retinographic and optical coherence tomography study with surgical outcome and follow-up.
    Veterinary ophthalmology· 2023· PMID 37106503mais citado
  3. Spontaneous Partial Regression of Bilateral Grade III Corneal Dermoids Associated With Fetal Valproate Spectrum Disorder.
    Cornea· 2022· PMID 35942546mais citado
  4. Acellular Porcine Corneal Stroma May Not Be Optimal for Peripheral Keratoplasty: Reports of 2 Cases.
    Cornea· 2021· PMID 33252383mais citado
  5. Geometric Profiling of Corneal Limbal Dermoids for the Prediction of Surgical Outcomes.
    Cornea· 2020· PMID 32898353mais citado
  6. Corneal cross-linking-induced stromal demarcation line.
    Cornea· 2006· PMID 17133053recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1661(Orphanet)
  2. OMIM OMIM:304730(OMIM)
  3. MONDO:0010579(MONDO)
  4. GARD:2580(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Dermoide da córnea ligado ao X
Compêndio · Raras BR

Dermoide da córnea ligado ao X

ORPHA:1661 · MONDO:0010579
Prevalência
<1 / 1 000 000
Casos
6 casos conhecidos
Herança
X-linked recessive
CID-10
Q13.4 · Outras malformações congênitas da córnea
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1844671
Wikidata
Evidência
🥈 Coorte
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