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Review
. 2023 Jan;40(1):182-187.
doi: 10.1111/pde.15133. Epub 2022 Sep 14.

Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature

Peter H Hoeger  1   2 , Lisa M Koehler  1   2 , Maria Reipschlaeger  1 , Sandra Mercier  3   4
Affiliations
Review

Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature

Peter H Hoeger et al. Pediatr Dermatol. 2023 Jan.

Abstract

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in FAM111B. We report another case with a new pathogenic variant and analyze all previously published 34 cases with a focus on sequence of clinical presentation and genotype-phenotype correlation. POIKTMP is characterized by marked age-dependent clinical expressivity. FAM111B encodes a catalytic nuclear protein, expressed in many tissues, which contributes to impaired DNA repair affecting multiple systems. Specific inhibition of catalytic activity might be a future strategy to halt progression of this otherwise untreatable disease. Given the relentless progression of the disease, it would make sense to start such treatment as early as possible. In order to achieve this objective, children with suspected POIKTMP should therefore undergo early imaging of all relevant organ systems.

Keywords: FAMB111B gene; POIKTMP; hereditary fibrosing poikiloderma; multisystem disease.

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References

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