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An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.
Features include always present findings: Absent eyelashes, Keratosis pilaris, Comedo, and Papule and others. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 2 | Papule, Erythema |
Eyes | 1 | Abnormality of vision |
Brain and nerves | 1 | Intellectual disability |
Age of onset: infancy, childhood.
LRP1 encodes LDL receptor related protein 1 (4,544 aa). Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Highest expression in Cells Cultured fibroblasts (358.2 TPM) and Artery Aorta (276.5 TPM).
Keratosis pilaris atrophicans is associated with mutations in the LRP1 gene on chromosome 12.
The LRP1 protein participates in MMP1,3,13 (2, 7-12, 19) binding by Alpha-2 macroglubulin pathway.
LRP1 is classified as a druggable target (Druggable Genome and Kinase categories) with score 1.1.
Genetic testing for LRP1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features.
1 clinical trial registered, 1 recruiting. Interventions under study include medical devices. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.
14 publications have been identified in PubMed for keratosis pilaris atrophicans. Research spans Case Report / Case Series (43%), Clinical Trial Publication (21%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 43% |
Clinical study results | 3 | 21% |
Research summaries | 2 | 14% |
Other research | 1 | 7% |
Laboratory research | 1 | 7% |
Disease patterns and progression | 1 | 7% |
Liu F (2026). [PMID: 41439609](https://pubmed.ncbi.nlm.nih.gov/41439609/). *J Cosmet Dermatol*. [Review / Meta-Analysis]
Awad A (2026). [PMID: 41496469](https://pubmed.ncbi.nlm.nih.gov/41496469/). *Exp Dermatol*. [Epidemiology / Natural History]
Du YJ (2026). [PMID: 41736049](https://pubmed.ncbi.nlm.nih.gov/41736049/). *Trials*. [Clinical Trial Publication]
Lasheras-Pérez MA (2025). [PMID: 41024335](https://pubmed.ncbi.nlm.nih.gov/41024335/). *Int J Dermatol*. [Basic Science / Preclinical]
Zafer D (2025). [PMID: 40351894](https://pubmed.ncbi.nlm.nih.gov/40351894/). *Cureus*. [Case Report / Case Series]
Desai DD (2024). [PMID: 38784309](https://pubmed.ncbi.nlm.nih.gov/38784309/). *Cureus*. [Case Report / Case Series]
Saini A (2024). [PMID: 38323588](https://pubmed.ncbi.nlm.nih.gov/38323588/). *J Cutan Med Surg*. [Case Report / Case Series]
Brashi R (2024). [PMID: 39205768](https://pubmed.ncbi.nlm.nih.gov/39205768/). *Cureus*. [Case Report / Case Series]
Song Y (2024). [PMID: 39366907](https://pubmed.ncbi.nlm.nih.gov/39366907/). *Skin Res Technol*. [Other]
Seervai RNH (2024). [PMID: 38717752](https://pubmed.ncbi.nlm.nih.gov/38717752/). *JAMA Dermatol*. [Case Report / Case Series]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:23 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center