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Tang, P. POIKTMP. Encyclopedia. Available online: https://encyclopedia.pub/entry/6050 (accessed on 20 September 2026).
Tang P. POIKTMP. Encyclopedia. Available at: https://encyclopedia.pub/entry/6050. Accessed September 20, 2026.
Tang, Peter. "POIKTMP" Encyclopedia, https://encyclopedia.pub/entry/6050 (accessed September 20, 2026).
Tang, P. (2021, January 04). POIKTMP. In Encyclopedia. https://encyclopedia.pub/entry/6050
Tang, Peter. "POIKTMP." Encyclopedia. Web. 04 January, 2021.

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts of the body, particularly the skin, muscles, lungs, and pancreas. Signs and symptoms vary among affected individuals.

genetic conditions

References

  1. Khumalo NP, Pillay K, Beighton P, Wainwright H, Walker B, Saxe N, Mayosi BM,Bateman ED. Poikiloderma, tendon contracture and pulmonary fibrosis: a newautosomal dominant syndrome? Br J Dermatol. 2006 Nov;155(5):1057-61.
  2. Küry S, Mercier S, Shaboodien G, Besnard T, Barbarot S, Khumalo NP, Mayosi BM,Bézieau S. CUGC for hereditary fibrosing poikiloderma with tendon contractures,myopathy, and pulmonary fibrosis (POIKTMP). Eur J Hum Genet. 2016 May;24(5). doi:10.1038/ejhg.2015.205.
  3. 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, DavidA, 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. Expanding the clinicalspectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Orphanet J Rare Dis. 2015 Oct15;10:135. doi: 10.1186/s13023-015-0352-4.
  4. Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N,Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E,Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C,Barbarot S, Keavney B, Bézieau S, Mayosi BM. Mutations in FAM111B causehereditary fibrosing poikiloderma with tendon contracture, myopathy, andpulmonary fibrosis. Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi:10.1016/j.ajhg.2013.10.013.
  5. Otsu U, Moriwaki S, Iki M, Nozaki K, Horiguchi Y, Kiyokane K. Earlyblistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatichypofunction: a peculiar variant of Rothmund-Thomson syndrome? Eur J Dermatol.2008 Nov-Dec;18(6):632-4. doi: 10.1684/ejd.2008.0509.
  6. Seo A, Walsh T, Lee MK, Ho PA, Hsu EK, Sidbury R, King MC, Shimamura A.FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.Pancreas. 2016 Jul;45(6):858-62. doi: 10.1097/MPA.0000000000000529.
  7. Takeichi T, Nanda A, Yang HS, Hsu CK, Lee JY, Al-Ajmi H, Akiyama M, SimpsonMA, McGrath JA. Syndromic inherited poikiloderma due to a de novo mutation inFAM111B. Br J Dermatol. 2017 Feb;176(2):534-536. doi: 10.1111/bjd.14845.
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