X-linked recessive ichthyosis vulgaris: Rapid identification by lipoprotein electrophoresis

Traupe, Heiko; Kövary, Peter Michael; Schriewer, H

doi:10.1007/bf00516558

Cited by 11 publications

(6 citation statements)

References 9 publications

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“…Thus, whereas electrophoresis of β‐lipoproteins carried out over 30 min is diagnostic in most males with X‐linked ichthyosis, it is not so in female carriers. Although some authors have reported increased electrophoretic lipoprotein mobility in female carriers when electrophoresis is continued for 50 min, the shift is not as clear as in affected males and the results are insufficiently confirmed 101 …”

Section: Laboratory Diagnosis Of X‐linked Ichthyosismentioning

confidence: 82%

“…In serum, cholesterol sulphate, which is negatively charged, is carried by some lipoprotein fractions (β‐ and pre‐β‐lipoproteins), altering their electrophoretic mobility 99 ,. 101 Consequently, electrophoresis of lipoproteins in patients with ichthyosis X reveals an increase in the migration speed of these particles towards the positive pole 11 ,. 98 , 102 –104 The technique is simple and rapid but may give false negatives, as has been found in some individuals with X‐linked ichthyosis who have normal electrophoretic mobility 95 .…”

Section: Laboratory Diagnosis Of X‐linked Ichthyosismentioning

confidence: 99%

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X-linked ichthyosis: an update

Hernández‐Martín¹,

González-Sarmiento²,

P³

1999

British Journal of Dermatology

141

122

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X-linked ichthyosis is a genetic disorder of keratinization characterized by a generalized desquamation of large, adherent, dark brown scales. Extracutaneous manifestations include corneal opacity and cryptorchidism. Since 1978 it has been known that a deficit in steroid sulphatase enzyme (STS) is responsible for the abnormal cutaneous scaling, although the exact physiological mechanism remains uncertain. The STS gene has been mapped to the distal part of the short arm of the X chromosome. Interestingly, this region escapes X chromosome inactivation and has the highest ratio of chromosomal deletions among all genetic disorders, complete deletions having been found in up to 90% of patients. Diagnosis of patients with X-linked ichthyosis and female carriers is based on biochemical and genetic analysis. The latter currently seems to be the most accurate method in the majority of cases.

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Section: Laboratory Diagnosis Of X‐linked Ichthyosismentioning

confidence: 82%

Section: Laboratory Diagnosis Of X‐linked Ichthyosismentioning

confidence: 99%

X-linked ichthyosis: an update

Hernández‐Martín¹,

González-Sarmiento²,

P³

1999

British Journal of Dermatology

141

122

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“…fetal death, anencephaly, and fetal disorders such as adrenal nonformation and placental dysfunction) is required [5]. Although, postnatally, patients have abnormal levels of sulfated steroid in tissues and body fluids, liveborn infants are clinically normal at birth [6, 7]. XLI is characterized by a generalized scaling of the skin, with large, polygonal, dark-brown scales, more prominent on the extensor aspects of the limbs [8].…”

Section: Introductionmentioning

confidence: 99%

Molecular Analysis of X-Linked Ichthyosis in Japan

Sugawara¹,

Fujimoto

2001

Horm Res Paediatr

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Background: X-linked ichthyosis (XLI) is an inherited skin disorder caused by a deficiency of steroid sulfatase (STS). The gene and protein of STS were examined in 19 Japanese patients with XLI. Results: In Western blotting analysis, no cross-reacting peptide was detected in the patients’ placenta, although a single band (63 kD) corresponding to STS in a normal subject was observed. Southern blotting was performed using EcoRI digests of cellular DNA from 13 XLI patients and full-length human STS cDNA as a probe. Normal males had bands of 20, 15, 10, 9.0, 6.1, 4.2, 2.6, and 1.5 kb. Twelve of the 19 patients had only 20- and 1.5-kb bands. Only one patient had the same band pattern as that of normal males. The STS gene was analyzed by PCR in 6 of the 19 patients. PCR amplification products were sequenced to analyze the STS gene. Two cases with one-base change in the STS gene and variation in amino acids H444R and E560P were found. Mutant STS cDNA was transfected into COS-1 cells and the STS enzyme activity was assayed. The enzyme activities were less than the minimum detection value of the detection system. Conclusions: These results suggest that XLI is mainly caused by an extensive deletion of the STS gene and that the PCR method is useful for detection of STS point mutations.

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“…Daneben wurde eine erhöhte elektrophoretische Mobilität (verlängerte Wanderungsstrecke) der LDL [7,10,13,16] bzw. von LDL und VLDL [9,11,20] in der Serumlipoproteinelektrophorese beschrieben. Deren Ursache liegt nach verschiedenen Autoren [7,13,16] …”

Section: Introductionunclassified