Part 6, Reference for Chapter 77: Poikiloderma Syndromes
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Dyskeratosis congenita
- 1 Dyskeratosis congenita. In: Pagon RA, AdamMP, Ardinger HH, et al., eds. GeneReviews. Seattle, WA: University of Washington, 1993–2014. .
- 2 The genetics of dyskeratosis congenita. Cancer Genet 2011;204:635–45. Cross Ref link Pubmed link , .
- 3 Dyskeratosis congenita. Hematol Oncol Clin North Am 2009;23:215–31. Cross Ref link Pubmed link , .
- 4 Connecting chromosomes, crisis and cancer. Science 2002;297:565–9. Cross Ref link Pubmed link , .
- 5 Telomere shortening in human diseases. FEBS J 2013;280:3180–93. Cross Ref link Pubmed link , , .
- 6 Telomerase in the human organism. Oncogene 2002;21:564–79. Cross Ref link Pubmed link , .
- 7 Shelterin: the protein complex that shapes and safeguards human telomeres. Genes Dev 2005;19:2100–10. Cross Ref link Pubmed link .
- 8 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet 2013;92:448–53. Cross Ref link Pubmed link , , , et al.
- 9 Dyskeratosis congenita. J Med Genet 1988;25:843–6. Cross Ref link Pubmed link , .
- 10 Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005;102:15960–4. Cross Ref link Pubmed link , , , et al.
- 11 Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase‐associated protein NOP10. Hum Mol Genet 2007;16:1619–29. Cross Ref link Pubmed link , , , et al.
- 12 Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc Natl Acad Sci USA 2004;101:10756–61. Cross Ref link Pubmed link , , , et al.
- 13 Skewed X‐inactivation in carriers of X‐linked dyskeratosis congenita. Blood 1997;90:2213–16. Pubmed link , , , .
- 14 The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001;413:432–5. Cross Ref link Pubmed link , , , et al.
- 15 Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nature Genet 2004;36:447–9. Cross Ref link Pubmed link , , , et al.
- 16 Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 2003;102:916–18. Cross Ref link Pubmed link , , , et al.
- 17 Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 2005;352:1413–24. Cross Ref link Pubmed link , , , et al.
- 18 Telomerase reverse‐transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal–Hreidarsson syndrome. Blood 2007;110:4198–205. Cross Ref link Pubmed link , , , et al.
- 19 Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci USA 2008;105:8073–8. Cross Ref link Pubmed link , , , et al.
- 20 Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev 2011;25:11–16. Cross Ref link Pubmed link , , , et al.
- 21 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita. Hum Genet 2013;132:473–80. Cross Ref link Pubmed link , , , et al.
- 22 Ribosomopathies: human disorders of ribosome dysfunction. Blood 2010;115:3196–205. Cross Ref link Pubmed link , .
- 23 A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein‐mediated p52 stabilisation. Blood 2011;118:5458–65. Cross Ref link Pubmed link , , , .
- 24 Human dyskerin: beyond telomeres. Biol Chem 2014;395:593–610. Cross Ref link Pubmed link , , , .
- 25 p53pathway activation by telomere attrition in X‐DC primary fibroblasts occurs in the absence of ribosome biogenesis failure and as a consequence of DNA damage. Clin Transl Oncol 2014;16:529–38. Cross Ref link Pubmed link , , , et al.
- 26 Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haemat 1998;103:990–6. Cross Ref link , , , et al.
- 27 Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006;107:2680–5. Cross Ref link Pubmed link , , , et al.
- 28 Dyskeratosis congenita. A case with new features. Arch Dermatol 1964;89:345–9. Cross Ref link Pubmed link , , .
- 29 Further delineation of the congenital form of X‐linked dyskeratosis congenita (Hoyeraal–Hreidarsson syndrome). Eur J Pediatr 2003;162:863–7. Cross Ref link Pubmed link , , , et al.
- 30 Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet 1992;29:673–5. Cross Ref link Pubmed link , , , .
- 31 TINF2, a component of the shelterin telomere protection system, is mutated in dyskeratosis congenita. Am J Hum Genet 2008;82:501–9. Cross Ref link Pubmed link , , , et al.
- 32 Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation. Bone Marrow Transplant 1997;19:389–92. Cross Ref link Pubmed link , , , et al.
- 33 Dyskeratosis congenita. J Med Genet 1988;25:843–6. Cross Ref link Pubmed link , .
- 34 Positive response to granulocyte‐colony‐stimulating factor in dyskeratosis congenita before matched unrelated bone marrow transplantation. Am J Pediatr Hematol Oncol 1994;16:186–7. Pubmed link , .
- 35 Effect of retinoids on precancerous lesions of oral mucosa. In: Orfanos CE, Braun‐Falco O, Farber EM, et al., eds. Retinoids. Advances in Basic Research and Therapy. Berlin: Springer, 1981:307–12. .
Rothmund–Thomson syndrome
- 36 Rothmund–Thomson syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews. Seattle, WA: University of Washington, 1993–2014. , .
- 37 Zur Histopathologie der kongenitalen Poikilodermie Thomson. Z Haut Geschlechtskr 1968;43:155–66. Pubmed link , .
- 38 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller–Gerold syndromes. Clin Genet 2014, epub ahead of print. Pubmed link , , , et al.
- 39 RecQ4 facilitates UV‐induced DNA damage repair through interaction with nucleotide excision repair factor XPA. J Biol Chem 2008;283:29037–44. Cross Ref link Pubmed link , .
- 40 Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund–Thomson patients. Mutat Res 1982;94;213–28. Cross Ref link Pubmed link , .
- 41 A case of Rothmund–Thomson syndrome with reduced DNA repair capacity. Arch Dermatol 1993;129:332–6. Cross Ref link Pubmed link , , , et al.
- 42 The mutation spectrum in RECQL4 diseases. Eur J Hum Genet 2009;17:151–8. Cross Ref link Pubmed link , , , et al.
- 43 Rothmund–Thomson syndrome associated with trisomy 8 mosaicism. J Med Genet 1990;27:258–60. Cross Ref link Pubmed link , , .
- 44 Van Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller–Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet 2006;43:148–52. Cross Ref link Pubmed link , , , et al.
- 45 Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet 2003;12:2837–44. Cross Ref link Pubmed link , , , et al.
- 46 Clinical manifestations in a cohort of 41 Rothmund–Thomson syndrome patients. Am J Med Genet 2001;102:11–17. Cross Ref link Pubmed link , , , et al.
- 47 Rothmund–Thomson syndrome: a report of two patients and a review of the literature. Br J Dermatol 1990;122:821–9. Cross Ref link Pubmed link .
- 48 Rothmund–Thomson syndrome: review of the world literature. J Am Acad Dermatol 1992;27:750–62. Cross Ref link Pubmed link , , .
- 49 Rothmund–Thomson syndrome. A case report, phototesting, and literature review. J Am Acad Dermatol 1987;17:332–8. Cross Ref link Pubmed link , , .
- 50 Lésions kératosiques et verruqueuses au cours du syndrome de Thomson. Ann Dermatol Syphiligr 1972;99:269–76. , .
- 51 Multiple cutaneous neoplasms in a patient with Rothmund–Thomson syndrome: case report and published work review. J Dermatol 2008;35:154–61. Cross Ref link Pubmed link , , , .
- 52 Hypogonadism and parathyroid adenoma in congenital poikiloderma (Rothmund–Thomson syndrome). Clin Endocrinol 1975;4:75–82. Cross Ref link , , , et al.
- 53 Rothmund–Thomson syndrome and Addison disease. Pediatr Dermatol 1995;12:164–9. Cross Ref link Pubmed link , , , et al.
- 54 Myelodysplastic syndrome in a child with Rothmund–Thomson syndrome: a case report. J Pediatr Hematol Oncol 1996;18:96–7. Cross Ref link Pubmed link , , , et al.
- 55 Multiple malignant diseases in a patient with Rothmund–Thomson syndrome with RECQL4 mutations: case report and literature review. Am J Med Genet 2010;152A:1575–9. Pubmed link , , , et al.
- 56 Malignant eccrine poroma in a patient with Rothmund–Thomson syndrome. Br J Dermatol 1996;134:813–15. Cross Ref link Pubmed link , , , et al.
- 57 Rothmund–Thomson syndrome and malignant fibrous histiocytoma: a case report. Pediatr Hematol Oncol 1995;12:103–5. Cross Ref link Pubmed link , , .
- 58 Rothmund–Thomson syndrome associated with annular pancreas and duodenal stenosis: a case report. Pediatr Dermatol 1993;10:159–63. Cross Ref link Pubmed link , , , et al.
- 59 Congenital poikiloderma: treatment with etretinate. Br J Dermatol 1988;118:729–30. Cross Ref link Pubmed link , .
- 60 Treatment of the poikilodermatous component of the Rothmund–Thomson syndrome with the flashlamp‐pumped pulsed dye laser: a case report. Pediatr Dermatol 1991;8:162–5. Cross Ref link Pubmed link , .
Poikiloderma with neutropenia, Clericuzio type
- 61 Immune deficient poikiloderma: a new genodermatosis. Am J Hum Genet 1991;49(Suppl.):131. Pubmed link , , .
- 62 Southwestern Athabaskan (Navajo and Apache) genetic diseases. Genet Med 1999;1:151–7. Cross Ref link Pubmed link .
- 63 Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non‐Navajo patients. Am J Med Genet 2003;118A:299–301. Cross Ref link Pubmed link , , , et al.
- 64 Piokiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet 2008;146A:2762–9. Cross Ref link Pubmed link , , , et al.
- 65 Targeted next‐generation sequencing appoints C16orf57 as Clericuzio‐type poikiloderma with neutropenia gene. Am J Hum Genet 2010;86:72–6. Cross Ref link Pubmed link , , , et al.
- 66 Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio‐type poikiloderma with neutropenia. Am J Med Genet 2010;152A:1347–8. Pubmed link , , , et al.
- 67 Mutations in C16orf57 and normal‐length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome. Hum Mol Genet 2010;19:4453–61. Cross Ref link Pubmed link , , , et al.
- 68 Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet 2010;152A:2588–94. Cross Ref link Pubmed link , , , et al.
- 69 Aberrant 3′ oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Cancer Genet 2011;204:635–45. Cross Ref link Pubmed link , , , et al.
Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis
- 70 Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet 2013;93:1100–7. Cross Ref link Pubmed link , , , et al.
- 71 Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominany syndrome? Br J Dermatol 2006;155:1057–61. Cross Ref link Pubmed link , , , et al.
Acrokeratotic poikiloderma of Weary
- 72 Hereditary sclerosing poikiloderma: report of two families with an unusual and distinctive genodermatosis. Arch Dermatol 1969;100:413–22. Cross Ref link Pubmed link , , , et al.
- 73 [Weary. Hereditary sclerosing poikiloderma.] Ann Dermatol Venereol 1995;122:618–20. Pubmed link , , , et al.
- 74 Grau Hereditary sclerosing poikiloderma of Weary: report of a new case. Br J Dermatol 1999;140:366–8. Cross Ref link Pubmed link , , , .