Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.
Pediatr Dermatol
; 40(1): 182-187, 2023 Jan.
Article
en En
| MEDLINE
| ID: mdl-36102338
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fibrosis Pulmonar
/
Contractura
Límite:
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Alemania