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lipoid proteinosis - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Multiple eyelid beaded papules and Hoarse voice; and very common findings: Scarring. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	8	Patchy alopecia, Thickened skin, Multiple eyelid beaded papules
Brain and nerves	6	Memory problems (memory impairment), Seizure, Generalized non-motor (absence) seizure

Age of onset: infancy.

GeneReviews

Clinical Guidance

Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material that results in a hoarse voice from early infancy and characteristic skin lesions. To date, more than 400 individuals have been identified with biallelic pathogenic variants in ECM1 . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Lipoid Proteinosis: Frequency of Select Features Feature | Frequency

In nearly all	Common	Infrequent
Hoarse voice	Severe dysphonia /or complete aphonia	Breathing difficulties
Moniliform blepharosis	Hyperkeratotic verrucous lesions	Patchy diffuse alopecia

Source: GeneReviews — "Lipoid Proteinosis"

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 lipoid proteinosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for lipoid proteinosis (LP) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with LP, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Lipoid Proteinosis (LP)

System/Concern	Evaluation	Comment
Skin lesions	Dermatologist	Assess for hemorrhagic or crusting lesions.
Upper airway	Otolaryngologist	Assess for airway obstruction assoc w/vocal cord infiltration.
Epilepsy	Neurologist	If clinical findings suggest seizures Neuropsychiatric
disorders	Neurobehavioral testing	Assess for memory impairment, hallucinations, paranoia, aggressive behavior. Brain MRI
counseling	By genetics professionals1	To inform patients families re nature, MOI, implications of LP in order to facilitate medical personal decision making Family support resources

Source: GeneReviews — "Lipoid Proteinosis"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Lipoid Proteinosis"

Clinical Trials

View trials for lipoid proteinosis

Explore Trials

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 lipoid proteinosis.

30 publications have been identified in PubMed for lipoid proteinosis. Research spans Case Report / Case Series (80%), Review / Meta-Analysis (10%), and Diagnostic / Biomarker (3%).

Research Type	Count	% of Total
Patient case studies	24	80%
Research summaries	3	10%
Testing and diagnosis research	1	3%
Clinical study results	1	3%
New treatment approaches	1	3%

Recent Publications

Yang Y (2026). [PMID: 41562451](https://pubmed.ncbi.nlm.nih.gov/41562451/). *J Craniofac Surg*. [Case Report / Case Series]
Baltaci MA (2026). [PMID: 41693020](https://pubmed.ncbi.nlm.nih.gov/41693020/). *Rheumatology (Oxford)*. [Diagnostic / Biomarker]
LeWitt TM (2026). [PMID: 33760528](https://pubmed.ncbi.nlm.nih.gov/33760528/). *Unknown Journal*. [Review / Meta-Analysis]
Demofonte I (2026). [PMID: 40391438](https://pubmed.ncbi.nlm.nih.gov/40391438/). *Dermatol Reports*. [Case Report / Case Series]
Xu S (2026). [PMID: 41927423](https://pubmed.ncbi.nlm.nih.gov/41927423/). *Oral Surg Oral Med Oral Pathol Oral Radiol*. [Case Report / Case Series]
Van Alfen B (2025). [PMID: 40351997](https://pubmed.ncbi.nlm.nih.gov/40351997/). *Cureus*. [Case Report / Case Series]
An İ (2025). [PMID: 38876475](https://pubmed.ncbi.nlm.nih.gov/38876475/). *Int J Dermatol*. [Clinical Trial Publication]
Ng XG (2025). [PMID: 40385837](https://pubmed.ncbi.nlm.nih.gov/40385837/). *Cureus*. [Case Report / Case Series]
Ashby N (2025). [PMID: 40262684](https://pubmed.ncbi.nlm.nih.gov/40262684/). *J AAPOS*. [Case Report / Case Series]
Gowda SK (2025). [PMID: 41311674](https://pubmed.ncbi.nlm.nih.gov/41311674/). *SAGE Open Med Case Rep*. [Case Report / Case Series]

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lipoid proteinosis

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

ABCC6

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Airway obstruction

Seizures

Research Landscape

Recent Publications

lipoid proteinosis

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

ABCC6

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Airway obstruction

Seizures

Research Landscape

Recent Publications