Skip to main content
SpringerLink
Log in

Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome

  • Letters to the Editors
  • Published:
Human Genetics Aims and scope Submit manuscript

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Arbisser AI, Scott CI, Howell RR, Ong PS, Con HL (1976) A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects 12:219–228

    Google Scholar 

  • Braun-Falco O, Ring J, Butenandt O, Selzle D, Landthaler M (1981) Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotorische Retardation und Resorptionstörungen Hautarzt 32:67–74

    Google Scholar 

  • Calderon R, Gonzalez-Cantu N (1979) Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation. J Pediatr 95:1007–1008

    Google Scholar 

  • Crovato F, Borrone F, Rebora A (1983) Trichothiodystrophy-BIDS, IBIDS and PIBIDS? Br J Dermatol 108:247

    Google Scholar 

  • Crovato F, Borrone F, Rebora A (1984) The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 142:233–234

    Google Scholar 

  • Diaz-Perez JL, Vasquez JA (1983) Flattened hair syndrome: a new disease. Arch Dermatol 119:854–855

    Google Scholar 

  • Garland H, Moorhouse D (1953) An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features. J Neurol Neurosurg Psychiatry 16:110–116

    Google Scholar 

  • Happle R, Traube H, Gröbe H, Bonsmann G (1984) The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 141:147–152

    Google Scholar 

  • Jackson CE, Weiss L, Watson JHL (1974) “Brittle” hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics 54:201–208

    Google Scholar 

  • Jorizzo JL, Crounse RG, Wheeler CE (1980) Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes. J Am Acad Dermatol 2:309–317

    Google Scholar 

  • Jorizzo JL, Atherton DJ, Crounse RG, Wells RS (1982) Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol 106:705–710

    Google Scholar 

  • King MD, Gummer CI, Stephenson JHP (1984) Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. J Med Genet 21:286–289

    Google Scholar 

  • Leupold D (1979) Ichthyosis congenita, Katarakt, Schwachsinn, Ataxie, Osteosklerose und Abwehrdefekt — ein eigenständiges Syndrom? Monatschr Kinderheilkd 127:307–308

    Google Scholar 

  • Lucky PA, Kirsch N, Lucky AW, Carter M (1984) Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure. J Am Acad Dermatol 11:340–346

    Google Scholar 

  • Pollitt RJ, Jenner FA, Davies M (1968) Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child 43:211–216

    Google Scholar 

  • Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for neuroectodermal symptom complex. Arch Dermatol 116:1375–1384

    Google Scholar 

  • Rebora A, Crovato F (1987) Trichothiodystrophy with xeroderma pigmentosum (group D) mutation. J Am Acad Dermatol 16:940–947

    Google Scholar 

  • Rebora A, Guarrera M, Crovato F (1986) Amino acid analysis in hair from PIBI(D)S syndrome. J Am Acad Dermatol 15:109–111

    Google Scholar 

  • Salfeld R, Lindey MJ (1982) Zur Frage der Merkmalskombination bei Ichthyosis vulgaris mit Bambushaarbildung und ecktodermaler Dysplasie. Dermatol Wochenschr 147:118–128

    Google Scholar 

  • Stefanini M, Lagomarsini P, Arlett CF, Marinoni S, Crovato F, Trevisan G, Cordone G, Nuzzo F (1986) Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum Genet 74:107–112

    Google Scholar 

  • Tay CH (1971) Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. Arch Dermatol 104:4–13

    Google Scholar 

  • Van Neste D, Caulier B, Thomas P (1985) PIBI(D)S syndrome: a new entity with defect of deoxyribonucleic acid excision repair system. Reply. J Am Acad Dermatol 13:685

    Google Scholar 

  • Yong SL, Cleaver JE, Tullis GD, Johnston MM (1984) Is trichothiodystrophy part of the xeroderma pigmentosum spectrum? Am J Hum Genet 36:82S

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, University of Genoa, Viale Benedetto XV, 7, I-16132, Genoa, Italy

    Alfredo Rebora

  2. Division of Dermatology, Chiavari-Lavagna Hospital, Chiavari (GE), Italy

    Franco Crovato

Authors
  1. Alfredo Rebora
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Franco Crovato
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rebora, A., Crovato, F. Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome. Hum Genet 78, 106–108 (1988). https://doi.org/10.1007/BF00291250

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291250

Keywords

Search

Navigation