Eye and appearance characteristics of encephalocraniocutaneous lipomatosis

Tian, Yanming; Wang, Yi; Gao, Xiao‐Wei; Jiang, Yan

doi:10.1038/s41433-018-0215-z

Cited by 3 publications

(3 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, is the most characteristic skin anomaly seen in ECCL, although our patient did not have it [2]. Granular mucosa visible on the surface of tongues is another finding that has also been described [8].…”

Section: Discussionsupporting

confidence: 53%

“…Pathak et al have previously described the presence of polymicrogyria in their report [6]. Patients can have normal development without seizures [8], as in our patient; however, there are others with normal development but with seizures, and some have mental retardation of various degrees [2]. Patients usually present with seizures in infancy or develop seizures secondary to hydrocephalus [4].…”

Section: Discussionmentioning

confidence: 61%

See 1 more Smart Citation

Encephalocraniocutaneous Lipomatosis: A Case Report and Literature Review

Subbiah¹,

Asiff²,

Hamzah³

et al. 2022

Cureus

View full text Add to dashboard Cite

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a neurocutaneous disorder of the skin, eye, and central nervous system. A three-month-old girl was referred to our center for further management of a large left eye corneal dermoid. At birth, a small lesion was noted. Magnetic resonance imaging (MRI) around the first week of life showed an extraocular dermoid cyst measuring 1 mm x 7 mm, dysplasia of the left greater wing of sphenoid, closed-lip schizencephaly of the left parietal lobe, and polymicrogyria. During examination under anesthesia at our center, we found that the corneal dermoid had grown in size to 17 mm x 16 mm, with posterior embryotoxon, a hazy cornea, and intraocular pressure of 26 mmHg. With the anterior segment dysgenesis and secondary glaucoma, we started Gutt Timo-Comod BD. Serial MRI imaging at four months of age revealed further enlargement of the dermoid, a new left retrobulbar mass, and multiple intracranial lipomas. A diagnosis of ECCL was made at this point based on the MRI and clinical findings. A multidisciplinary meeting was held among ophthalmology, neurosurgery, radiology, and otorhinolaryngology (ORL) teams, which concluded that surgical intervention such as tumor debulking might cause more harm than benefit. Hence, she was planned to undergo close monitoring with serial MRIs and only for surgical intervention, in the presence of airway compression or any neurological deficits. The ophthalmologist should be aware of the specific radiological and clinical findings in ECCL as management of the condition would be best through a multidisciplinary approach.

show abstract

Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 61%

Encephalocraniocutaneous Lipomatosis: A Case Report and Literature Review

Subbiah¹,

Asiff²,

Hamzah³

et al. 2022

Cureus

View full text Add to dashboard Cite

show abstract

“…El segundo es un síndrome dominante ligado a X, que se presenta exclusivamente en mujeres (en hombres es letal), puede cursar con microftalmia, coloboma e hipoplasia dérmica focal, además de polisindactilia y dentición deficiente (12) . También se ha descrito superposición con la lipomatosis encefalocraniocutánea o síndrome de Haberland (13) . De hecho, existe cierta coincidencia entre ambos trastornos, pero este carece de quistes orbitales; y si los apéndices cutáneos están presentes, no suelen localizarse en la región periorbital.…”

Section: Discussionunclassified

Diagnóstico prenatal de síndrome de Delleman-Oorthuys

Reyna-Villasmil

2022

Rev peru ginecol obstet.

View full text Add to dashboard Cite

El síndrome de Delleman-Oorthuys (síndrome oculocerebrocutáneo) es un trastorno esporádico, congénito y poco frecuente caracterizado por microftalmia / anoftalmia con o sin quistes orbitales, defectos cutáneos focales y alteraciones intracraneales. Debido a la distribución asimétrica de las características clínico-radiológicas, ausencia de recurrencia dentro de la familia y su mayor frecuencia en el sexo masculino, se ha propuesto la posibilidad de mosaicismo somático o mutaciones esporádicas en la quinta o sexta semana de desarrollo fetal. Los criterios diagnósticos mínimos sugeridos incluyen microftalmia o quistes orbitales, quistes del sistema nervioso central o hidrocefalia y defectos focales de piel. Dada la variabilidad en las manifestaciones y la superposición con otros síndromes, el diagnóstico puede ser difícil, pero la detección prenatal de esta rara anomalía congénita con malformaciones cerebrales es crucial en el manejo de los recién nacidos. Los estudios por imágenes para la evaluación de las características son útiles en la identificación y diferenciación de los casos. Se presenta un caso de diagnóstico prenatal de síndrome de Delleman-Oorthuys.

show abstract

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)

Hagel

Panteliadis

2022

Neurocutaneous Disorders

View full text Add to dashboard Cite

Eye and appearance characteristics of encephalocraniocutaneous lipomatosis

Cited by 3 publications

References 6 publications

Encephalocraniocutaneous Lipomatosis: A Case Report and Literature Review

Encephalocraniocutaneous Lipomatosis: A Case Report and Literature Review

Diagnóstico prenatal de síndrome de Delleman-Oorthuys

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)

Contact Info

Product

Resources

About