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polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

MONDO:0020750

Overview

GeneticsAutosomal recessive · TREM2 (chr 6)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Basal ganglia calcification, Cerebral cortical atrophy, and Leukoencephalopathy; and very common findings: Hypoplasia of the corpus callosum. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Babinski sign, Difficulty walking (gait disturbance), Memory problems (memory impairment)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

TREM2 function has not been fully characterized.

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 is associated with mutations in the TREM2 gene on chromosome 6.

GeneReviews

Clinical Guidance

Individuals with homozygous pathogenic variants in TYROBP or TREM2 develop similar CNS manifestations . Some TREM2 pathogenic variants have been reported to cause a dementia syndrome resembling PLOSL without evident osseous manifestations .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) have been published.

Suggestive Findings

PLOSL should be suspected in individuals with the following features:

Source: GeneReviews — "Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with PLOSL, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

The interval of surveillance for bone lesions, neurologic, and psychiatric manifestations must be determined individually.

Table 5.

Recommended Surveillance for Individuals with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

System/Concern | Evaluation | Frequency

Polycystic osseous lesions

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2.

6 publications have been identified in PubMed for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (33%), and Gene Therapy / Novel Therapeutics (17%).

Recent Publications

Bokhari BT (2026). [PMID: 41719345](https://pubmed.ncbi.nlm.nih.gov/41719345/). *PLoS One*. [Basic Science / Preclinical]
Martiskainen H (2025). [PMID: 40301889](https://pubmed.ncbi.nlm.nih.gov/40301889/). *Mol Neurodegener*. [Gene Therapy / Novel Therapeutics]
Takatori S (2025). [PMID: 40448228](https://pubmed.ncbi.nlm.nih.gov/40448228/). *Inflamm Regen*. [Review / Meta-Analysis]
Sowjanya K (2025). [PMID: 40991274](https://pubmed.ncbi.nlm.nih.gov/40991274/). *Ann Indian Acad Neurol*. [Review / Meta-Analysis]
Göttert R (2025). [PMID: 39879812](https://pubmed.ncbi.nlm.nih.gov/39879812/). *Stem Cell Res*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618193

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

System/Concern	Evaluation	Comment
osseous lesions	Radiographs of bones of wrists, hands, ankles, feet	To determine extent of osseous manifestations; A plain radiograph must be taken if skeletal pain due to risk of pathologic fracture. Neurologic
manifestations	Brain CT /or MRI	To determine extent of CNS manifestations Neurologic neuropsychological exam
counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of PLOSL to facilitate medical personal decision making CNS = central nervous system; MOI = mode of inheritance 1.
Manifestation/Concern	Treatment	Considerations/Other Polycystic osseous
lesions	Standard orthopedic management of fractures	Pain mgmt following treatment of osseous lesions
manifestations	Psychotropic drugs	Insufficient data available Psychological support early education of family members re nature of disorder
Epileptic seizures	Anti-seizure medication	The interval of surveillance for bone lesions, neurologic, and psychiatric manifestations must be determined individually. Recommended Surveillance for Individuals with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
System/Concern	Evaluation	Frequency
Polycystic osseous lesions	Clinical eval for evidence of fractures	Must be determined on an individual basis Neurologic manifestations

Kisho

polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Polycystic osseous lesions

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Neurologic manifestations

Psychiatric manifestations

polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Polycystic osseous lesions

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Neurologic manifestations

Psychiatric manifestations