High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome

“…Two siblings, Patients TTD6VI (16-year-old male) and TTD4VI (10-year-old female) from Belgium [Van Neste et al, 1989;Weeda et al, 1997;Riou et al, 1999] (Table 1) had TTD without features of XP or CS [Bootsma et al, 2002;Kraemer, 2003]. They had sun sensitivity, congenital ichthyosis, tiger-tail banding of the hair with polarized light, and reduced cysteine content of the hair.…”

“…Three patients from two families have the xeroderma pigmentosum (XP)/Cockayne syndrome (CS) complex (MIM] 133510), with skin features of XP including increased frequency of skin cancer and neurological abnormalities of CS [Noojin, 1965;Robbins et al, 1974;Brumback et al, 1978;Weeda et al, 1990b;Scott et al, 1993;Vermeulen et al, 1994;Rapin et al, 2000]. Two siblings in the third family have trichothiodystrophy (TTD; MIM] 601675), with sulfur deficient, brittle hair, and neurological abnormalities without increased frequency of skin cancer [Van Neste et al, 1989;Weeda et al, 1997;Riou et al, 1999]. We determined that two sisters (Patients XP33BR and XP1SA) with relatively mild XP without CS [Vivian et al, 1993] and two new severe XP/CS complex families (Patients XP131MA [Bartenjev et al, 2000] and XP183MA), have defects in XP complementation group B.…”

Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes

“…De Berker, Tolmie, and Dawber 110 concluded that the intrinsic defect is due to failure of incorporation of sulfur-rich protein into the cuticle and matrix of the hair cortex. KAP 1-3/HSps and KAP 4-5/UHSps can be modified quantitatively or qualitatively as in a TTD variant defined by Van Neste et al 130 This contrasts with the qualitative and quantitative alterations observed in classic TTD. Van Neste et al 129 and De Brouwer et al 134 showed that the amino acid composition of hairs collected from a patient with a TTD variant was preserved when follicles had been grafted and maintained up to 6 months on nude mice.…”

“…143 A major discovery in advancing the understanding of the genetics of TTD but occasionally they are higher than normal. 130 The KAP 1-3/HSps are altered qualitatively, and, moreover, the KAP4-5/UHSps are severely decreased. 131 One-dimensional electrophoresis analysis by sodium dodecyl sulfate-polyacrylamide gel electrophoresis followed by fluorography shows that levels of highmolecular-weight basic-neutral keratins are generally preserved among hair diseases when compared with their acidic keratin partners and to KAP 1-3/HSps and KAP 4-5/UHSps.…”

Trichothiodystrophy: Update

“…Electrophoretic pattems of the high-sulfur proteins have differed not only from the normal but from each other (11), and raise the question whether each patient with trichothiodystrophy has a unique electrophoretic pattem or whether there is a limited number of highsulfur protein pattems. A variant form of trichothiodystrophy has been described in which the highsulfur proteins were decreased in amount without a significant change in their amino acid composition (12).…”