Trichothiodystrophy: A systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

Journal of Medical Genetics

Volumn 45, Issue 10, 2008, Pages 609-621

  Faghri, S ^a,b   Tamura, D ^a   Kraemer, K H ^a   DiGiovanna, J J ^a,b  

^a NATIONAL CANCER INSTITUTE   (United States)

^b BROWN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

XERODERMA PIGMENTOSUM GROUP D PROTEIN;

BONE DISEASE; CLINICAL FEATURE; CONGENITAL DISORDER; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA REPAIR; EYE DISEASE; GENE MUTATION; GENETIC DISORDER; GEOGRAPHIC DISTRIBUTION; GONADAL DYSGENESIS; HEART DISEASE; HEMATOLOGIC DISEASE; HUMAN; ICHTHYOSIS; INCIDENCE; INFECTION; INTELLECTUAL IMPAIRMENT; LIVER DISEASE; MORTALITY; NAIL DISEASE; NEUROLOGIC DISEASE; PHOTOSENSITIVITY; PREGNANCY COMPLICATION; PRIORITY JOURNAL; RECURRENT DISEASE; REVIEW; RISK FACTOR; SHORT STATURE; SYSTEMATIC REVIEW; TOOTH DISEASE; TRICHOTHIODYSTROPHY;

ADOLESCENT; ADULT; BIRTH WEIGHT; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA REPAIR; EYE DISEASES; FEMALE; GENES, RECESSIVE; GONADAL DYSGENESIS; HAIR; HUMANS; ICHTHYOSIS; INFANT; MALE; MIDDLE AGED; PHOTOSENSITIVITY DISORDERS; PREVALENCE; TRICHOTHIODYSTROPHY SYNDROMES;

EID: 54049139573     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2008.058743     Document Type: Review

References (124)

1. Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 2001;44:891-920.
2. Ruenger TM, DiGiovanna JJ, Kraemer KH. Hereditary Diseases of genome instability and DNA repair. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Faller AS, Leffell DJ, editors. Fitzpatrick's dermatology in general medicine, 7 ed. New York: McGraw Hill, 2008:1311-25.
3. Liang C, Kraemer KH, Morris A, Schiffmann R, Price VH, Menefee E, DiGiovanna JJ. Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol 2005; 52(2 Pt 1):224-32.
4. Liang C, Morris A, Schlucker S, Imoto K, Price VH, Menefee E, Wincovitch SM, Levin IW, Tamura D, Strehle KR, Kraemer KH, DiGiovanna JJ. Structural and molecular hair abnormalities in trichothiodystrophy. J Invest Dermatol 2006;126:2210-6.
5. Friedberg EC, Walker GC, Siecle W, Wood RD, Schultz RA, Ellenberger T. DNA repair and mutagenesis, 2 ed. Washington DC: ASM Press, 2006.
6. Kraemer KH, Ruenger TM. Genome instability, DNA repair and cancer. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Faller AS, Leffell DJ, eds. Fitzpatrick's dermatology in general medicine, 7 ed. New York: McGraw Hill, 2008:977-86.
7. Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet 2005;76:510-6.
8. Kraemer KH, Lee MM, Scotto J. DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum. Carcinogenesis 1984;5:511-4.
9. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241-50.
10. Kraemer KH, Lee MM, Andrews AD, Lambert WC. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Arch Dermatol 1994;130:1018-21.
11. Kraemer K, Patronas N, Schiffmann R, Brooks B, Tamura D, DiGiovanna Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 2007;145:1388-96.
12. Price VH. Strukturanomalien des Haarschaftes. In: Orfanos CE, ed. Haar und Haarkrankheiten. Stuttgart: Gustav Fischer Verlag, 1979:387-446.
13. Crovato F, Borrone C, Hebora A. Trichothiodystrophy - BIDS, IBIDS and PIBIDS? Br J Dermatol 1983; 108: 247.
14. Jorizzo JL, Crounse RG, Wheeler CE Jr. Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes. J Am Acad Dermatol 1980;2:309-17.
15. Jorizzo JL, Atherton DJ, Crounse RE, Wells RS. Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol 1982;106:705-10.
16. Baden HP, Jackson CE, Weiss L, Jimbow K, Lee L, Kubilus J, Gold RJ. The physicochemical properties of hair in the (IBIDS syndrome). Am J Hum Genet 1976;28:514-21.
17. Price VH, Odom RB, Ward WH, Jones Fr. Trichothiodystrophy: suffur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 1980;116:1375-84.
18. Lubchenco LO, Hansman C, Dressler M, Boyd E. Intrauterine growth as estimated from liveborn birth-weight data at 24 to 42 weeks of gestation. Pediatrics 1963;32:793-800.
19. Braun-Falco O, Ring J, Butenandt O, Selzle D, Landthaler M. [Ichthyosis vulgaris, growth retardation, hair dysplasia, tooth abnormalities, immunologic deficiencies, psychomotor retardation and resorption disorders. Case report of 2 siblings]. Hautarzt 1981; 32:67-74.
20. Leopold D. [Ichthyosis congenita, cataract, mental retardation, ataxia, osteosclerosis and immunologic deficiency - a particular syndrome?]. Monatsschr Kinderheilkd 1979;127:307-8.
21. Salfeld K, Lindley MJ. [On the problem of combination of symptoms in ichthyosis vulgaris with bamboo hair formation and ectodermal dysplasia]. Dermatol Wochenschr 1963;147:118-28.
22. Pollitt RJ, Jenner FA, Davies M. Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child 1968;43:211-6.
23. Brown AC, Belser RB, Crounse RG, Wehr RF. A congenital hair defect: trichoschisis with alternating birefringence and low sulfur content. J Invest Dermatol 1970;54:496-509.
24. Tay CH. Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. Arch Dermatol 1971;104:4-13.
25. Jackson CE, Weiss L, Watson JH. "Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics 1974; 54:201-7.
26. Happle R, Traupe H, Grobe H, Bonsmann G. The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 1984;141:147-52.
27. Arbisser AI, Scott CI Jr, Howell RR, Ong PS, Cox HL Jr. A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects Ong Artic Ser 1976;12:219-28.
28. Howell RR, Arbisser AI, Parsons DS, Scott CI, Fraustact U, Collie WR, Marshall RN, Ibarra OC. The Sabinas syndrome. Am J Hum Genet 198;33:957-67.
29. Happle R, Traupe H, Grobe H, Bonsmann G. Author's reply. Eur J Pediatr 1984;142:234.
30. Chapman S. The trichothiodystrophy syndrome of Pollitt. Pediatr Radiol 1988;18:154-6.
31. van Neste D, Caulier B, Thomas P, Vasseur F. PIBIDS: Tay's syndrome and xeroderma pigmentosum. J Am Acad Dermatol 1985; 12(2 Pt 1):372-3.
32. Stefanini M, Lagomarsini P, Arlett CF, Marinoni S, Borrone C, Crovato F, Trevisan G, Cordone G, Nuzzo F. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothodystrophy with photosensitivity. Hum Genet 1986; 74:107-12.
33. Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, Sarasin A, Harper JI, Arlett CF, Hoeijmakers JH. A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. Am J Hum Genet 1993;53:817-21.
34. Vandenberghe K, Casteels I, Vandenbussche E, De Zegher F, De Boeck K. Bilateral cataract and high myopia in a child with trichothiodystrophy: a case report. Bull Soc Belge Ophtalmol 2001;282:15-8.
35. Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek P, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet 2004;36:714-9.
36. Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taieb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am J Hum Genet 1997;60:320-9.
37. Alfandari S, Delaporte E, van Neste D, Lucidarme-Delespierre E, Piette F, Bergoend H. A new case of isolated trichothiodystrophy. Dermatology 1993;186:197-200.
38. Baden HP, Katz A. Trichothiodystrophy without retardation: one patient exhibiting transient combined immunodeficiency syndrome. Pediatr Dermatol 1988;5:257-9.
39. Battistella PA, Peserico A. Central nervous system dysmyelination in PIBI(D)S syndrome: a further case. Childs Nerv Syst 1996; 12:110-3.
40. Blomquist HK, Back O, Fagerlund M, Holmgren G, Stecksen-Blicks C. Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair. Acta Paediatr Scand 1991;60:1241-5.
41. Butte E, Nardo T, Broughton BC, Marinoni S, Lehmann AR, Stefanini M. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. Am J Hum Genet 1998;63:1036-48.
42. Bracun R, Hemmer W, Wolf-Abdolvahab S, Focke M, Botzi C, Killian W, Gotz M, Jarisch R. Diagnosis of trichothiodystrophy in 2 siblings. Dermatology 1997;194:74-6.
43. Broughton BC, Lehmann AR, Harcourt SA, Arlett CF, Sarasin A, Kleijer WJ, Beemer FA, Naim R, Mitchell DL. Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy. Mutat Res 1990;235:33-40.
44. Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR. Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet 1994;7:189-94.
45. Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet 2001;10:2539-47.
46. Brusasco A, Restano L. The typical 'tiger tail' pattern of the hair shaft in trichothiodystrophy may not be evident at birth. Arch Dermatol 1997;133:249.
47. Calvieri S, Rossi A, Amorosi B, Giustini S, Innocenzi D, Micali G, Rizzo R. Trichothiodystrophy: ultrastructural studies of two patients. Pediatr Dermatol 1993;10:111-6.
48. Calvieri S, Giustini S, Nini G. Trichothiodystrophy: 2 cases. In: Wilkinson DS, ed. Clinical dermatology: The CMD case collection. Stuttgart: Schattauer, 1987:65-6.
49. Cancrini C, Romiti ML, Di Cesare S, Angelini F, Gigiotti D, Livadiotti S, Bertini E, Rossi P, Racioppi L. Restriction in T-cell receptor repertoire in a patient affected by trichothiodystrophy and CD4+ lymphopenia. Scand J Immunol 2002;56:212-6.
50. Chen E, Cleaver JE, Weber CA, Packman S, Barkovich AJ, Koch TK, Williams ML, Golabi M, Price VH. Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings. J Invest Dermatol 1994;103(5 Suppl):154S-8S.
51. Civitelli R, McAlister WH, Teitelbaum SL, Whyte MP. Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature. J Bone Miner Res 1989;4:863-75.
52. Coulter DL, Beals TF, Allen RJ. Neurotrichosis: hair-shaft abnormalities associated with neurological diseases. Dev Med Child Neurol 1982;24:634-44.
53. Crovato F, Borrone C, Rebora A. The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 1984; 142:233-4.
54. Dahbi-Skali H, Benamar L, Benchikhi H, Lakhdar H, Pinel N. PIBIDS syndrome (trichothiodystrophy type F) and skin cancer: an exceptional association. Photodermatol Photoimmunol Photomed 2004; 20:157-8.
55. de Prost Y, Lemaistre R, Dupre A. Trichothiodystrophie associee a une ichtyose et a un retard statural et psychomoleur. Ann Dermatol Venereol 1986:113:1016-7.
56. Feller V, Solovan C. [Trichothiodystrophy and hypereosinophilic syndrome, an unusual association]. Ann Dermatol Venereol 1994; 121:151-5.
57. Fois A, Balestri P, Calvieri S, Zampetti M, Giustini S, Stefanini M, Lagomarsini P. Trichothiodystrophy without photosensitivity. Biochemiral, ultrastructural and DNA repair studies. Eur J Pediatr 1988;147:439-41.
58. Fortina AB, Alaibac M, Piaserico S, Peserico A. PIBI(D)S: clinical and molecular characterization of a new case. J Eur Acad Dermatol Venereol 2001;1:65-9.
59. Foulc P, Jumbou O, David A, Sarasin A, Stalder JF. [Trichothiodystrophy: progresssive manifestations]. Ann Dermatol Venereol 1999;126:703-7.
60. Gillespie JM, Marshall RC, Rogers M. Trichothiodystrophy-biochemical and clinical studies. Australas J Dermatol 1988;29:85-93.
61. Gummer CL, Dawber RP. Trichothiodystrophy: an ultrastructural study of the hair follicle. Br J Dermatol 1985;113:273-80.
62. Hansen LK, Wulff K, Brandrup F. [Trichothiodystrophy. Hair examination as a diagnostic tool]. Ugeskr Laeger 1993; 155:1949-52.
63. Hersh JH, Klein LR, Joyce MR, Hordinsky MK, Tsai MY, Paller A, Hyzer R, Zax RH. Trichothiodystrophy and associated anomalies: a ariant of SIBIDS or new symptom complex? Pediatr Dermatol 1993; 10:117-22.
64. Here RK, Murthy VS. Mental retardation, short stature and brittle hair (BIDS syndrome; hair brain syndrome). Indian J Pediatr 1996;63:117-20.
65. Hordinsky MK, Briden B, Berry SA. Friable hair, urea cycle dysfunction, and trichothiodystrophy. A new X-linked genodermatosis. Curr Probl Dermatol 1987;17:52-60.
66. Itin PH, Pittelkow MR. Trichothiodystrophy with chronic neutropenia and mild mental retardation. J Am Acad Dermatol 1991;24(2 Pt 2):356-8.
67. King MD, Gummer CL, Stephenson JB. Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. J Med Genet 1984;21:286-9.
68. Kleijer WJ, Beemer FA, Boom BW. Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D. Am J Med Genet 1994; 52:227-30.
69. Kousseff BG, Esterly NB. Trichothiodystrophy, IBIDS syndrome or Tay syndrome? Birth Defects Orig Artic Ser 1988;24:169-81.
70. Lehmann AR, Arlett CF, Broughton BC, Harcourt SA, Steingrimsdottir H, Stefanini M, Malcolm A, Taylor R, Natarajan AT, Green S. Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light. Cancer Res 1988; 48:6090-6.
71. Lucky PA, Kirsch N, Lucky AW, Carter DM. Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure. J Am Acad Dermatol 1984;11(2 Pt 2):340-6.
72. Lynch SA, de Berker D, Lehmann AR, Pollitt RJ, Reid MM, Lamb WH. Trichothiodystrophy with sideroblastic anaemia and developmental delay. Arch Dis Child 1995;73:249-51.
73. Malvehy J, Ferrando J, Soler J, Tuneu A, Ballesta F, Estrach T. Trichothiodystrophy associated with urologic malformation and primary hypercalciuria. Pediatr Dermatol 1997;14:441-5.
74. Mairinoni S, Gaeta G, Not T, Freschi P, Trevisan G, Briscik E, Giliani S. Early recognition of trichothiodystrophy with xeroderma pigmentation group D mutation in a collodion baby. In: Panconesi E, ed. Dermatology in Europe. Oxford: Blackwell Scientific, 1991:632-3.
75. Mazeraeuw-Hautier J, Pech JH, Heitz F, Bonafe JL. [Trichothiodystrophy and congenital heart disease in two sisters). Ann Dermatol Venereol 2002;129 (10 Pt 1):1168-71.
76. McCuaig C, Marcoux D, Rasmussen JE, Werner MM, Gentner NE. Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis. J Am Acad Dermatol 1993;28(5 Pt 2):820-6.
77. Meynadier J, Guillot B, Barneon G, Djian B, Levy A. [Trichothiodystrophy]. Ann Dermatol Venereol 1987; 114:1529-36.
78. Milligan A, Fletcher A, Porter DI, Hutchinson PE. Trichothiodystrophy. Clin Exp Dermatol 1991;16:264-7.
79. Motley RJ, Finlay AY. A patient with Tay's syndrome. Pediatr Dermatol 1989;6:202-5.
80. Murphy LA, Atherton DJ. Collodion baby, failure to thrive and frequent fever due to trichothiodystrophy syndrome. Br J Dermatol 2003;149(Suppl 64):71-86.
81. Murrin KL, Clarke DJ. Behavioural aspects of Pollitt syndrome: a 32-year follow-up of a case described by R. J. Pollitt and colleagues in 1968. J Intellect Disabil Res 2002;46(Pt 3):273-8.
82. Ostergaard JR, Christensen T. The central nervous system in Tay syndrome. Neuropediatrics 1996;27:326-30.
83. Peserico A, Battistella PA, Bertoli P. MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S. Neuroradiology 1992; 34:316-7.
84. Peter C, Tomczok J, Hoting E, Behrendt H. Trichothiodystrophy without associated neuroectodermal defects. Br J Dermartol 1998; 139:137-40.
85. Petrin JH, Meckler KA, Sybert VP. A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death. Pediatr Dermatol 1998;15:31-4.
86. Poissonnier M, Blanc A, Bat P. [Genetic counseling in a case of neuroectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content]. J Genet Hum 1988;36:361-5.
87. Porto L, Weis R, Schulz C, Reichel P, Lanfermann H, Zanella FE. Tay's syndrome: MRI. Neuroradiology 2000;42:849-51.
88. Price Veal. Trichothiodystrophy: sulfur-deficient brittle hair. In: Brown AC CR, ed. Hair, trace elements and human illness. New York: Praeger Publishers, Inc, 1980.
89. Przedborskii S, Ferster A, Goldman S, Wolter R, Song M, Tonnesen T, Pollitt RJ, Vamos E. Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings. Am J Med Genet 1990;35:566-73.
90. Quintero RA, Morales WJ, Gilbert-Barness E, Claus J, Bornick W, Allen MH, Ackerman J, Koussef B. In utero diagnosis of richothiodystrophy by endoscopically-guided fetal eyebrow biopsy. Fetal Diagn Ther 2000;15:152-5.
91. Racioppi L, Cancrini C, Romiti ML, Angelini F, Di Cesare S, Bertini E, Livadiotti S, Gambarara MG, Matarese G, Lago PF, Stefanini M, Rossi P. Defective dendritic cell maturation in a child with nuclecitide excision repair deficiency and CD4 lymphopenia. Clin Exp Immunol 2001;126:511-8.
92. Rebora A, Crovato F. The Tay syndrome. A reply to the author's reply. Eur J Pediatr 1964;143:76.
93. Rebora A, Guarrera M, Crovato F. Amino acid analysis in hair from PIBI(D)S syndrome. J Am Acad Dermatol 1986;15:109-11.
94. Rebora A, Crovato F. PIBI(D)S syndrome - trichothiodystrophy with xeroderma pigmentosum (group D) mutation. J Am Acad Dermatol 1987;16(5 Pt 1):940-7.
95. Rebora A, Crovato F. Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome. Hum Genet 1988;78:106-8.
96. Riou L, Zeng L, Chevallier-Lagente O, Stary A, Nikaido O, Taieb A, Weeda G, Mezzina M, Sarasin A. The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. Hum Mol Genet 1999; 8:1125-33.
97. Rizzo R, Pavone L, Micali G, Calvieri S, Di Gregorio L. Trichothiodystrophy: report of a new case with severe nervous system impairment. J Child Neurol 1992;7:300-3.
98. Sarasin A, Blanchet-Bardon C, Renault G, Lehmann A, Arlett C, Oumez Y. Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair. Br J Dermatol 1992;127:485-91.
99. Sass JO, Skladal D, Zelger B, Romani N, Utermann B. Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid. Arch Dermatol Res 2004;296:188-91.
100. Savary JB, Vasseur F, Vinatier D, Manouvrier S, Thomas P, Deminatti MM. Prenatal diagnosis of PIBIDS. Prenat Diagn 1991; 11:859-66.
101. Schepis C, Elia M, Siragusa M, Barbareschi M. A new case of trichothiodystrophy associated with autism, seizures, and mental retardation. Pediatr Dermatol 1997;14:125-8.
102. Stefanini M, Giliani S, Nardo T, Marinoni S, Nazzaro V, Rizzo R, Trevisan G. DNA repair investigations in nine Italian patients affected by trichothiodystrophy. Mutat Res 1992;273:119-25.
103. Stelanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A. Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis 1993;14:1101-5.
104. Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA. Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. Am J Hum Genet 1996; 58:263-70.
105. Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA. DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. Hum Mutat 1997; 9:519-25.
106. Toelle SP, Valsangiacomo E, Boltshauser E. Trichothiodystrophy with severe cardiac and neurological involvement in two sisters. Eur J Pediatr 2001;160:728-31.
107. Tolmie JL, de Berker D, Dawber R, Galloway C, Gregory DW, Lehmann AR, McClure J, Pollitt RJ, Stephenson JB. Syndromes associated with trichothiodystrophy. Clin Dysmorphol 1994;3:1-14.
108. van Neste D, Bore P. [Trichothiodystrophy: a morphological and biochemical study]. Ann Dermatol Venereol 1983;110:409-17.
109. van Neste D, de Greef H, van Haute N, van Hee J, van der Maesen J, Taieb A, Maleville J, Fontan D, Bakry N, Gillespie JM, Marshall RC. High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant of trichothiodystrophy. In: Van Neste, ed. Trends in human hair and alopecia research. Dordrecht: Klaver Academic, 1989:195-206.
110. Vermoulen W, Rademakers S, Jaspers NG, Appeldoorn E, Raams A, Klein B, Kleijer WJ, Hansen LK, Hoeijmakers JH. A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nat Genet 2001:27:299-303.
111. Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR. Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet 2001;10:2797-802.
112. Wakeling EL, Cruwys M, Sun M, Brady AF, Aylett SE, Hall C. Central osteosclerosis with trichothiodystrophy. Pediatr Radiol 2004; 34:541-6.
113. Wetzburger CL, Van Regemorter N, Szliwowski HB, Abramovvicz MJ, Van Bogaert P. Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophy. Pediatr Neurol 1998:19:392-4.
114. Yoon HK, Sargent MA, Prendiville JS, Poskitt KJ. Cerebellar and cerebral atrophy in trichothiodystrophy. Pediatr Radiol 2005; 35:1019-23.
115. van Neste D, Miller X, Bohnert E. Clinical symptoms associated with trichothiodystrophy: a review of the literature with special emphasis on light sensitivity and the association with xeroderma pigmentosum (complementation group D). In: Van Neste, ed. Trends in human hair and alopecia research. Dordrecht: Klaver Academic, 1989:183-93.
116. Martin JA, Hamilton BE, Sutton PD, Ventura SJ, Menacker F, Kirmeyer S, Munson ML. Birthsi Final Data for 2005. National Vital Statistics Reports 2007;56:1-104.
117. Levin AV. Congenital eye anomalies. Pediatr Clin North Am 2003:50:55-76.
118. Alapetite C, Benoit A, Moustacchi E, Sarasin A. The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy. J Invest Dermatol 1997;108:154-9.
119. Savary JB, Vasseur F, Vinatier D, Manouvrier S, Oeminatti MM. First-trimester prenatal exclusion of PIBIDS syndrome with normal DNA excision repair on chorionic villus cells. Prenat Diagn 1992; 12:969-71.
120. Dubaele S, Proietti De SL, Bienstock RJ, Keriel A, Stefanini M, Van HB, Egly JM. Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. Mol Cell 2003;11:1635-46.
121. Lehmann AR. The xeroderma pigmentosurn group D (XPD) gene: one gene, two functions, three diseases. Genes Dev 2001; 15:15-23.
122. Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH. Cockayne syndrome and xeroderma pigmentosum. Neurology 2000; 55:1442-9.
123. Itin PH, Pittelkow MR. Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J Am Acad Dermatol 1990;22:705-17.
124. Faghri S, DiGiovanna JJ, Tamura D, Kraemer KH. Trichothiodystrophy includes a broad spectrum of multisystem abnormalities and may have a high mortality at a young age. J Invest Dermatol April 2007; 127(Suppl 1):S106.