Features include always present findings: Acrokeratosis, Mottled pigmentation, Sparse eyelashes, and Poikiloderma; and common findings: Absent eyebrow, Pigment incontinence, and Sparse scalp hair. 8 total HPO annotations.

LTV1 encodes LTV1 ribosome biogenesis factor (475 aa). Essential for ribosome biogenesis Highest expression in Cells Cultured fibroblasts (66.4 TPM) and Cells EBV-transformed lymphocytes (62.9 TPM).

Inflammatory poikiloderma with hair abnormalities and acral keratoses is associated with mutations in the LTV1 gene on chromosome 6.

LTV1 is classified as a druggable target with score 0.0.

Genetic testing for LTV1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 3 common features.