Lipomatosis encefalocraneocutánea (síndrome de Haberland) con afectación ocular bilateral

Sousa, M. López; Iglesias, J. Varela; Alejandro, Mauro; Rodríguez, Millán; Pérez-Muñuzuri, Alejandro

doi:10.1157/13107399

Cited by 5 publications

(1 citation statement)

References 8 publications

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“…Our case is consistent with the few other cases 3,4,14,15 of Haberland diagnosed in the neonatal period as the infants present with obvious physical exam abnormalities, commonly the hallmark nevus psiloliparus (subdermal tumor often with overlying alopecia), various ocular abnormalities, and early onset of seizures in the setting of abnormal neuroimaging. Providers should be able to recognize a constellation of findings in the neonatal period (partial alopecia, cranial asymmetry, fleshy tissue adjacent to conjunctiva, low set ears) and have a clinical suspicion of Haberland syndrome among other neurocutaneous syndromes.…”

Section: Discussionsupporting

confidence: 91%

Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

et al. 2021

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Haberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, and ectomesodermal dysgenesis. The diagnosis of ECCL is classically made by clinical presentation, imaging, and histopathological findings, but due to the spectrum of clinical presentation and symptom severity, diagnosis is often delayed until adolescence or adulthood. Here we present a newborn male infant, one of the earliest case diagnoses to our knowledge, with a unique constellation of physical exam and neuroimaging findings consistent with this diagnosis. We aim to address important neonatal findings to aid in early detection and diagnosis of this unique disease, which is thought to improve clinical outcomes and patient quality of life.

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Section: Discussionsupporting

confidence: 91%

Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

et al. 2021

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Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia

Delfino

Fariello

Quattrocchi

et al. 2011

American J of Med Genetics Pt A

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Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by involvement of tissues of ectodermal and mesodermal origin such as skin, eye, adipose tissue, and brain. Since 1970, when Haberland and Perou had described the first patient, 54 cases of ECCL have been reported in literature. We report on three new boys with ECCL. In addition to their typical dermal, ocular and central nervous system anomalies, one of them had a spheno-ethmoidal osseous lesion. Histopathological evaluation confirmed the benign nature of the lesion and was consistent with fibrous dysplasia. The aim of our study is to review clinical records and brain imaging studies of these three new patients with ECCL and compare these findings with those reported in literature to better define the phenotypic spectrum and radiological findings in ECCL.

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Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature

Karaman

Özüdoğru

2021

Childs Nerv Syst

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Lipomatosis encefalocraneocutánea (síndrome de Haberland) con afectación ocular bilateral

Cited by 5 publications

References 8 publications

Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia

Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature

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