Research & Literature

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Mercier S, Küry S, Salort-Campana E, et al.

Orphanet journal of rare diseases 2015; (10()):135 doi:10.1186/s13023-015-0352-4.

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Suter AA, Itin P, Heinimann K, et al.

Molecular genetics & genomic medicine 2016; (4(3)):359-66 doi:10.1002/mgg3.209.

Assessment and treatment of spastic equinovarus foot after stroke: Guidance from the Mont-Godinne interdisciplinary group.

Deltombe T, Wautier D, De Cloedt P, et al.

Journal of rehabilitation medicine 2017; (49(6)):461-468 doi:10.2340/16501977-2226.

[Pulmonary fibrosis associated with hereditary fibrosing poikiloderma caused by FAM111B mutation: A case report].

Sanchis-Borja M, Pastré J, Mercier S, et al.

Revue des maladies respiratoires 2018; (35(9)):968-973 doi:10.1016/j.rmr.2018.09.002.

Mutations of FAM111B gene are not associated with Systemic Sclerosis.

Gcelu A, Deshpande G, Shaboodien G, et al.

Scientific reports 2018; (8(1)):15988 doi:10.1038/s41598-018-34341-7.

Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.

Zhang Z, Zhang J, Chen F, et al.

The Journal of dermatology 2019; (46(11)):1014-1018 doi:10.1111/1346-8138.15045.

FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.

Hoffmann S, Pentakota S, Mund A, et al.

EMBO reports 2020; (21(10)):e50662 doi:10.15252/embr.202050662.

Inherited skin disorders presenting with poikiloderma.

Rayinda T, van Steensel M, Danarti R

International journal of dermatology 2021; (60(11)):1343-1353 doi:10.1111/ijd.15498.

Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.

Roversi G, Colombo EA, Magnani I, et al.

Genetics and molecular biology 2021; (44(3)):e20200332 doi:10.1590/1678-4685-GMB-2020-0332.

Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.

Arowolo A, Rhoda C, Khumalo N

Experimental dermatology 2022; (31(5)):648-654 doi:10.1111/exd.14537.

Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia.

Takimoto-Sato M, Miyauchi T, Suzuki M, et al.

Frontiers in genetics 2022; (13()):870192 doi:10.3389/fgene.2022.870192.

Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.

Macchiaiolo M, Panfili FM, Vecchio D, et al.

American journal of medical genetics. Part A 2022; (188(10)):2920-2931 doi:10.1002/ajmg.a.62906.

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

Hoeger PH, Koehler LM, Reipschlaeger M, Mercier S

Pediatric dermatology 2023; (40(1)):182-187 doi:10.1111/pde.15133.

A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.

Ryabets-Lienhard A, Panjawatanan P, Vogt K, et al.

Calcified tissue international 2023; (112(4)):518-523 doi:10.1007/s00223-022-01053-0.

Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course.

Silverstein RS, Wang DD, Haruno LS, et al.

Journal of pediatric orthopedics 2023; (43(2)):e163-e167 doi:10.1097/BPO.0000000000002283.

Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.

Ferré EMN, Yu Y, Oikonomou V, et al.

Frontiers in immunology 2023; (14()):1133387 doi:10.3389/fimmu.2023.1133387.

Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length.

Kliszczak M, Moralli D, Jankowska JD, et al.

Frontiers in cell and developmental biology 2023; (11()):1175069 doi:10.3389/fcell.2023.1175069.

Changes in Lower Extremity Passive Range of Motion and Muscle Strength After Selective Percutaneous Myofascial Lengthening and Functional Physiotherapy in Children With Cerebral Palsy.

Skoutelis VC, Dimitriadis Z, Kanellopoulos A, et al.

Cureus 2024; (16(8)):e67325 doi:10.7759/cureus.67325.

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Vignard V, Maillasson M, Bigot A, et al.

EBioMedicine 2025; (119()):105864 doi:10.1016/j.ebiom.2025.105864.

[Research progress of genetic research on POIKTMP syndrome].

Yang H, Xiang R, Fan L

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2026; (43(3)):228-233 doi:10.3760/cma.j.cn511374-20250623-00383.