Evidence map›Paper›PMID 41283481›Full record

ReviewDermatopathology (Basel, Switzerland)2025

Histopathologic Features and Molecular Markers of Encephalocraniocutaneous Lipomatosis (ECCL).

Siddharth Venigalla, Tanvir K Dhaliwal, Anvita Anumolu, Lena Rafey, Arturo P Saavedra, David D Limbrick

Abstract readReview
In one paragraph

Review in Dermatopathology (Basel, Switzerland), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Siddharth VenigallaDepartment of Neurosurgery, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA.
Tanvir K DhaliwalDepartment of Dermatology, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA.
Anvita AnumoluDepartment of Dermatology, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA.ORCID 0009-0004-0930-7540
Lena RafeyDepartment of Dermatology, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA.
Arturo P SaavedraDepartment of Dermatology, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA.
David D LimbrickDepartment of Neurosurgery, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous disorder characterized by ocular, skin, and central nervous system manifestations. Despite its recognizable clinical features, such as nevus psiloliparus, histopathologic characterization of ECCL remains limited in the dermatopathology literature, and diagnosis is often clinical. This scarcity of published histopathological descriptions makes diagnostic confirmation challenging and underscores the value of synthesizing the available evidence. This comprehensive review synthesizes reported histopathological findings across cutaneous manifestations highlighting key tissue-level features that may aid diagnostic confirmation. Additionally, we review the emerging role of molecular diagnostics, particularly the identification of mosaic activating mutations in

Indexed as

ECCLencephalocraniocutaneous lipomatosisFGFR1 mutationhistopathologyKRAS mutationmolecular diagnosticsmosaic disordersneurocutaneous syndromes

Identifiers

PMID41283481
PMCPMC12641649

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Registered trials

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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.