ArticleThe Indian journal of radiology & imaging2013
Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature.
Article in The Indian journal of radiology & imaging, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Haberland Syndrome (Encephalocraniocutaneous Lipomatosis): A Case Report and Review of Literature.Iranian journal of child neurology · 2025Article
- Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review.Brain sciences · 2022Article
- Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation.Acta dermato-venereologica · 2020Article
- Encephalocraniocutaneous Lipomatosis: Haberland Syndrome.The American journal of case reports · 2017Article
- Encephalocraniocutaneous lipomatosis: A case report with review of literature.The neuroradiology journal · 2017Review
- Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome.Journal of current ophthalmology · 2016Article
- Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report.Indian dermatology online journalArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare syndrome with unknown etiology. The syndrome is characterized by a triad of unique cutaneous, ocular, and central nervous system (CNS) manifestations. The cutaneous hallmark, nevus psiloliparus (NP), along with overlying alopecia is a constant feature. Choristoma of the eyelid is the most common ocular manifestation, while intracranial lipoma is the predominant CNS finding. Genetic counseling is required to emphasize that the disorder, although congenital, is not inheritable. We present a 21-year-old female with cutaneous, ocular, and CNS features satisfying the diagnostic criteria for ECCL. To our knowledge, this is the first case of ECCL having a large temporal exostosis. The objective of this article is to better understand the phenotypic spectrum of this syndrome whose molecular basis is still unknown.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.