Skip to main content

The Association of Xeroderma Pigmentosum with Trichothiodystrophy: A Clue to a Better Understanding of XP-D?

  • Chapter
DNA Damage and Repair

Abstract

In 1986 we reported the results of DNA repair investigations in patients showing acute photosensitivity and clinical traits of the rare hereditary disorder trichothiodystrophy (TTD) (Stefanini et al. 1986). Cells from these patients showed a reduced capacity to repair the UV-induced DNA damage similar to that present in individuals affected by xeroderma pigmentosum (XP) and the complementation analysis demonstrated that the repair defect was the same present in XP, complementation group D (XP-D).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Braun-Falco, O., Ring, J., Butenandt, O., Selzle, D., and Landthaler, M., 1981, Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotorische Retardation und Resorptionsstörungen. Hautarzt 32: 67.

    PubMed  CAS  Google Scholar 

  • Calderon, R., and Gonzalez-Cantu, N., 1979, Kinky hair, photosensitivity, broken eyebrows and eyelashes, and non-progressive mental retardation. J. Pediatr. 95: 1007.

    Article  PubMed  CAS  Google Scholar 

  • Cleaver, J.E., 1983, Xeroderma Pigmentosum, in “ The metabolic basis of inherited disease”, Stanbury J.B., Wyngaarden J.B., Fredrickson D.S., Golstein J.L. and Brown M.S. eds., McGraw-Hill New York.

    Google Scholar 

  • Cleaver, J.E., 1985, DNA repair deficiencies, in “Progress in diseases of the skin” Vol. 2, Fleischmajer R. ed., Grune and Stratton, New York.

    Google Scholar 

  • Diaz-Perez, J.L., and Vasquez, J.A., 1983, Flattened hair syndrome: a new disease. Arch. Dermatol. 119: 854.

    Google Scholar 

  • Fisher,E., Thielmann, H.W., Neundörfer, B., Rentsch, F.J., Edler, L. and Jung, E.G., 1982, Xeroderma pigmentosum patients from Germany: clinical symptoms and DNA repair characteristics. Arch. Dermatol. Res. 274: 229

    Google Scholar 

  • Fois, A., Balestri, P., Calvieri, S., Zampetti, M., Giustini, S., Stefanini, M., and Lagomarsini, P., 1987, Trichothiodystrophy without photosensitivity: biochemical, ultrastructural and DNA repair studies. Eur. J. Pediatr. in press.

    Google Scholar 

  • Gummer, C.L. and Dawber, R.P.R., 1985, Trichothiodystrophy: an ultrastructural study of the hair follicle. Br. J. Dermatol. 113: 273.

    Article  PubMed  CAS  Google Scholar 

  • Happle, R., Traupe, H., Gröbe, H., and Bonsmann, G., 1984, The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur. J. Pediatr. 141: 147.

    Article  PubMed  CAS  Google Scholar 

  • Howell, R.R., Arbisser, A.I., Parsons, D.S., Scott, C.I., Frausdadt, U., Collie, W.R., Marshall, R.N., and Ibarra, 0.C., 1981, The Sabinas syndrome. Am. J. Hum. Genet 33: 957.

    CAS  Google Scholar 

  • Jackson, C.E., Weiss, L., and Watson, J.H.L., 1974, “Brittle” hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics 54: 201.

    Google Scholar 

  • Jorizzo, J.L., Crounse, R.G., and Wheeler, C.E., 1980, Lamellar ichthyosis, dwarfism, mental retardation and hair shaft abnormalities. J. Am. Acad. Dermatol. 2: 309.

    Article  CAS  Google Scholar 

  • Jorizzo, J.L., Atherton, D.J., Crounse, R.G., and Wells, R.S., 1982, Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBDS syndrome). Br. J. Dermatol. 106: 705.

    Article  PubMed  CAS  Google Scholar 

  • Kato, T., Akiba, H., Seiji, M., Tohda, H. and Oikawa, 1985, Clinical and biological studies of 26 cases of xeroderma pigmentosum in northeast district of Japan. Arch. Dermatol. Res. 277: 1.

    Article  PubMed  CAS  Google Scholar 

  • King, M.D., Gummer, C.L., and Stephenson, J.B.P., 1984, Trichothiodystrophy-neurotrichocutaneous syndrome of Pollit: a report of two unrelated cases. J. Med. Genet. 21: 286.

    Article  PubMed  CAS  Google Scholar 

  • King, M.D., Arlett, C.F., Lehmann, A.R., Hayne, L.V., and Stephenson, J.B.P., 1986, Clinical and cellular studies in trichothiodystrophy 24th Annual Symposium SSIEM, Amersfoort, p 158 (Abstr).

    Google Scholar 

  • Kraemer, K.H. and Slor, H., 1985, Xeroderma pigmentosum. Clin. Dermatol. 3: 1.

    Article  Google Scholar 

  • Kraemer, K.H., Lee, M.M. and Scotto, J., 1987, Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch. Dermatol. 123: 241.

    Article  PubMed  CAS  Google Scholar 

  • Lambert, W.C. and Lambert M.W., 1985, Co-recessive inheritance: A model for DNA repair, genetic disease and carcinogenesis, Mutat. Res. 145: 227.

    Article  PubMed  CAS  Google Scholar 

  • Lehmann, A.R., 1982, Three complementation groups in Cockayne syndrome. Mutat. Res. 106: 347.

    Article  PubMed  CAS  Google Scholar 

  • Lehmann, A.R., 1987, Cockayne’s syndrome and trichothiodystrophy. Cancer Review 7: 82.

    Google Scholar 

  • Leupold, D., 1979, Ichthyosis congenita, Katarakt, Schwachsinn, Ataxie, Osteosklerose and Abwehrdefekt - ein eigenständiges Syndrom? Monatsschr Kinderheilkd 127: 307.

    PubMed  CAS  Google Scholar 

  • Lucky, P.A., Kirsch, N., Lucky, A.W., and Carter, D.M., 1984, Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure. J. Am. Acad. Dermatol. 11: 340.

    Article  PubMed  CAS  Google Scholar 

  • McKusck, V.A., 1986, Mendelian inheritance in man. Johns Hopkins University Press, Baltimore.

    Google Scholar 

  • Moshell, A.N., Ganges, M.B., Lutzner, M.A, Coon, H.G., Barret, S.F., Dupuy, J.M. and Robbins, J.H., 1983, A new patient with both xeroderma pigmentosum and Cockayne syndrome establishes the new xeroderma pigmentosum complementation group H, in: “Cellular response to DNA damage”, E.C. Friedberg and B.A. Bridges, eds., Alan R. Liss, New York.

    Google Scholar 

  • Nuzzo, F., Zei, G., Stefanini, M., Colognola, R., Santachiara, A.S., Lagomarsini, P., Marinoni, S., and Salvaneschi, L., 1987, Search for consanguinity within and among families of patients with the hereditary disease trichothiodystrophy associated with xeroderma pigmentosum. In preparation.

    Google Scholar 

  • Nuzzo, F., Stefanini, M., Rocchi, M., Casati, A., Colognola, R., Marinoni, S., and Scozzari, R., 1987, Chromosome and blood markers study in families of patients affected by xeroderma pigmentosum and trichothiodystrophy. In preparation.

    Google Scholar 

  • Pawsey, S.A., Magnus, I.A., Ramsay, C.A., Benson, P.F., and Giannelli, F., 1979, Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum. Quart. J. Med. 190: 179.

    Google Scholar 

  • Pollit, R.J., Jenner, F.A., and Davies, M., 1986, Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch. Dis. Child. 43: 211.

    Article  Google Scholar 

  • Price, V.H., Odom, R.B., Ward, W.H., and Jones, F.T., 1980, Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch. Dermatol. 116: 1375.

    Article  PubMed  CAS  Google Scholar 

  • Przedborski, S., Ferster, A., Song, M., Tonnesen, T., Ketelbant, P. and Vamos, E., 1985, Brittle hair, intellectual impairement, decreased fertility and short stature (BIDS) syndrome in three sibs. J. Neurol. 232: 127.

    Google Scholar 

  • Robbins, J.H., Kraemer, K.H., Lutzner, M.A., Festoff, B.W., and Coon, H.G., 1974, Xeroderma pigmentosum, and inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann. Intern. Med. 80: 221.

    PubMed  CAS  Google Scholar 

  • Salfeld, K., and Lindley, M.J., 1963, Zur Frage der Merkmalskombination bei Ichthyosis vulgaris mit Bambushaarbildung and ektodermaler Dysplasie. Dermatol. Wochenschr. 147: 118.

    CAS  Google Scholar 

  • Stefanini, M., Lagomarsini, P., Arlett, C.F., Marinoni, S., Borrone, C., Crovato, F., Trevisan, G., Cordone, G., and Nuzzo, F., 1986, Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum. Genet. 74: 107.

    Article  PubMed  CAS  Google Scholar 

  • Stefanini, M., Lagomarsini, P., Giorgi, R., and Nuzzo, F., 1987, Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV-photosensitivity. Mutat. Res. 191: 117.

    Article  PubMed  CAS  Google Scholar 

  • Tay, C.H., 1971, Ichthyosiform erythroderma, hair shaft abnormalities,’ and mental and growth retardation. Arch. Dermatol. 104: 4.

    Article  PubMed  CAS  Google Scholar 

  • Van Neste, D., and Boré, P., 1983, Trichothiodystrophye: une étude morphologique et biochimique. Ann. Dermatol. Venereol. 110: 409.

    PubMed  Google Scholar 

  • Van Neste, D., Caulier, B., Thomas, P., and Vasseur, F., 1985, PIBIDS: Tay’s syndrome and xeroderma pigmentosum. J. Am. Acad. Dermatol. 12: 372.

    Article  PubMed  Google Scholar 

  • Yong,S.L., Cleaver, J.E., Tullis, G.D., and Johnston, M.M., 1984, Is trichothiodystrophy part of the xeroderma pigmentosum spectrum? Am. J. Hum. Genet. 36: 82S.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1989 Springer Science+Business Media New York

About this chapter

Cite this chapter

Nuzzo, F., Stefanini, M. (1989). The Association of Xeroderma Pigmentosum with Trichothiodystrophy: A Clue to a Better Understanding of XP-D?. In: Castellani, A. (eds) DNA Damage and Repair. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-5016-4_8

Download citation

  • DOI: https://doi.org/10.1007/978-1-4757-5016-4_8

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4757-5018-8

  • Online ISBN: 978-1-4757-5016-4

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics