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Hereditary poikiloderma

MedGen UID:
944827
•Concept ID:
CN261795
•
Finding
Synonym: Hereditary acrokeratotic poikiloderma of Kindler-Weary
 
Monarch Initiative: MONDO:0016382
Orphanet: ORPHA222628

Professional guidelines

PubMed

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C
Clin Genet 2015 Mar;87(3):244-51. Epub 2014 Mar 26 doi: 10.1111/cge.12361. PMID: 24635570

Recent clinical studies

Etiology

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
Exp Dermatol 2022 May;31(5):648-654. Epub 2022 Feb 13 doi: 10.1111/exd.14537. PMID: 35122327Free PMC Article
Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis.
Chen F, Zheng L, Li Y, Li H, Yao Z, Li M
Acta Derm Venereol 2019 Jun 1;99(7):695-696. doi: 10.2340/00015555-3186. PMID: 30938824
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C
Clin Genet 2015 Mar;87(3):244-51. Epub 2014 Mar 26 doi: 10.1111/cge.12361. PMID: 24635570
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C
Eur J Med Genet 2012 Jan;55(1):8-11. Epub 2011 Aug 18 doi: 10.1016/j.ejmg.2011.07.004. PMID: 21872685
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.
Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Taïeb A
Am J Med Genet A 2008 Nov 1;146A(21):2762-9. doi: 10.1002/ajmg.a.32524. PMID: 18925663

Diagnosis

Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.
Hoeger PH, Koehler LM, Reipschlaeger M, Mercier S
Pediatr Dermatol 2023 Jan;40(1):182-187. Epub 2022 Sep 14 doi: 10.1111/pde.15133. PMID: 36102338
Inherited skin disorders presenting with poikiloderma.
Rayinda T, van Steensel M, Danarti R
Int J Dermatol 2021 Nov;60(11):1343-1353. Epub 2021 Mar 19 doi: 10.1111/ijd.15498. PMID: 33739439
Hereditary sclerosing poikiloderma.
Lee HJ, Shin DH, Choi JS, Kim KH
J Korean Med Sci 2012 Feb;27(2):225-7. Epub 2012 Jan 27 doi: 10.3346/jkms.2012.27.2.225. PMID: 22323875Free PMC Article
Hereditary sclerosing poikiloderma.
Greer KE, Weary PE, Nagy R, Robinow M
Int J Dermatol 1978 May;17(4):316-22. doi: 10.1111/j.1365-4362.1978.tb06085.x. PMID: 659034
Hereditary acrokeratotic poikiloderma.
Weary PE, Manley WF Jr, Graham GF
Arch Dermatol 1971 Apr;103(4):409-22. PMID: 4253719

Therapy

An unusual complication of facial sclerotherapy.
Hoffman K
Dermatol Surg 2003 Apr;29(4):423-4. doi: 10.1046/j.1524-4725.2003.29100.x. PMID: 12656827
Xeroderma pigmentosum and pigmented xerodermoid.
Jung EG, Bantle K
Birth Defects Orig Artic Ser 1971 Jun;7(8):125-8. PMID: 5173256

Prognosis

A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.
Ryabets-Lienhard A, Panjawatanan P, Vogt K, Ji J, Georgia S, Pitukcheewanont P
Calcif Tissue Int 2023 Apr;112(4):518-523. Epub 2022 Dec 27 doi: 10.1007/s00223-022-01053-0. PMID: 36575358
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
Exp Dermatol 2022 May;31(5):648-654. Epub 2022 Feb 13 doi: 10.1111/exd.14537. PMID: 35122327Free PMC Article
Inherited skin disorders presenting with poikiloderma.
Rayinda T, van Steensel M, Danarti R
Int J Dermatol 2021 Nov;60(11):1343-1353. Epub 2021 Mar 19 doi: 10.1111/ijd.15498. PMID: 33739439
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, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S
Orphanet J Rare Dis 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4. PMID: 26471370Free PMC Article
Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma.
Fryburg JS, Sidhu-Malik N
J Am Acad Dermatol 1995 Nov;33(5 Pt 2):900-2. doi: 10.1016/0190-9622(95)90432-8. PMID: 7593806

Clinical prediction guides

A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.
Ryabets-Lienhard A, Panjawatanan P, Vogt K, Ji J, Georgia S, Pitukcheewanont P
Calcif Tissue Int 2023 Apr;112(4):518-523. Epub 2022 Dec 27 doi: 10.1007/s00223-022-01053-0. PMID: 36575358
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
Exp Dermatol 2022 May;31(5):648-654. Epub 2022 Feb 13 doi: 10.1111/exd.14537. PMID: 35122327Free PMC Article
Mutations of FAM111B gene are not associated with Systemic Sclerosis.
Gcelu A, Deshpande G, Shaboodien G, Spracklen TF, Kalla A, Tikly M, Mayosi BM, Hodkinson B
Sci Rep 2018 Oct 30;8(1):15988. doi: 10.1038/s41598-018-34341-7. PMID: 30375432Free PMC Article
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, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S
Orphanet J Rare Dis 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4. PMID: 26471370Free PMC Article
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C
Eur J Med Genet 2012 Jan;55(1):8-11. Epub 2011 Aug 18 doi: 10.1016/j.ejmg.2011.07.004. PMID: 21872685

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