Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is described of incontinentia pigmenti in an infant with relatively normal retinae at seven days after birth who went on to total blindness by three months. This was due to excessive neovascularisation of retinae and vitreous, leading to bilateral pseudoglioma.
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PMID:Incontinentia pigmenti: the development of pseudoglioma. 339 Apr 22

Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. IP belongs to rare diseases involving skin pathological findings, together with neurological and ophthalmological disorders. We here report a two-year old girl with typical symptoms of the IP. A hitherto unreported feature is partial deletion of short arms of one of the chromosomes 15, found in the girl and in her mother. Using an automatic chromosome picture analyzer, a densitometric analysis of the aberration was carried out, in order to determine the break point and to compare the normal and deleted chromosomes.
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PMID:Clinical features and computer-aided analysis of chromosome aberration in a case with incontinentia pigmenti. 355 Feb 61

Three women subsequently shown to have incontinentia pigmenti (IP) presented with white hairless streaks on the limbs as the predominant cutaneous abnormality. Seven other patients with IP diagnosed in infancy were reviewed to establish the frequency of this sign. It was found in all of them, and in the otherwise unaffected mother of three affected girls. A focal absence of sweating in these lesions is reported here for the first time. There are other similarities with anhidrotic ectodermal dysplasia, suggesting a genetic overlap between these two X-linked conditions.
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PMID:Anhidrotic and achromians lesions in incontinentia pigmenti. 362 Mar 44

A t(X;9)(p11;q34) is reported in a girl with incontinentia pigmenti (IP). The X breakpoint is at p11.21. Although no similar case has been reported, this breakpoint may be significant insofar IP is considered an X-linked dominant mutation and could be of help in a specific X DNA probes study.
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PMID:Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? 387 69

The lines of Blaschko represent a nonrandom developmental pattern of the skin fundamentally differing from the system of dermatomes. Many nevoid skin lesions display an arrangement following these lines. This is a review of case reports providing photographically documented evidence that the lines of Blaschko become manifest in the heterozygous state of various X-linked gene defects such as incontinentia pigmenti, focal dermal hypoplasia, X-linked dominant chondrodysplasia punctata, X-linked hypohidrotic ectodermal dysplasia, and Menkes syndrome. Hence, a causal relationship between lyonization and the lines of Blaschko seems quite obvious. Although it should be borne in mind that other genetic mechanisms such as somatic mutations or chimerism may give rise to the same linear pattern, the datable embryologic event of X-inactivation seems most suitable to explain the origin and nature of the lines of Blaschko. Apparently, in women affected with X-linked skin disorders the lines of Blaschko visualize the clonal proliferation of two functionally different populations of cells during early embryogenesis of the skin. The typical dorsal V-shape and the abdominal S-figure of these lines may result from an interference of the transversal coherent proliferation with the longitudinal growth and flexion of the embryo. In contrast to Blaschko's original assumption, it is now clear that these lines are independent from the metameric structure of the human body. Obviously, they represent a marker of the normal development of human skin. Therefore, a thorough study of the distribution pattern of X-linked skin disorders in women may give us a better insight into the early embryogeny of the human integument.
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PMID:Lyonization and the lines of Blaschko. 389 10

For Incontinentia pigmenti Bloch-Sulzberger (IP) and Aicardi syndrome, an X-linked dominant transmission with lethality in hemizygous males has been proposed. The typical transition from inflammation to verrucous hypertrophy and hyperpigmented skin areas in IP suggests a gradual replacement of defective cells by normal cells. This would imply a preferential inactivation of the X chromosome carrying the IP gene with a proliferative advantage of this cell population. We have confirmed this hypothesis by demonstrating that the same X chromosome is preferentially active in fibroblasts grown from normal and hyperpigmented skin of an affected girl. In contrast, X inactivation was random in a girl with Aicardi syndrome.
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PMID:X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. 406 60

We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus.
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PMID:Two cases of X/autosome translocation in females with incontinentia pigmenti. 406 95

Dermatoglyphic investigation of palm prints in patients with Incontinentia pigmenti revealed in five of eight cases a partial ridge dissociation with lack of sweat gland pores. This disease can, therefore, be accepted as a second X-linked anhidrotic ectodermal dysplasia, which, however, is only segregated in the female.
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PMID:Partial sweat gland aplasia in incontinentia pigmenti Bloch-Sulzberger. Implications for nosologic classification. 646 52

We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near-blindness from amyloid deposition in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years. We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X-linked.
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PMID:Familial cutaneous amyloidosis with systemic manifestations in males. 679 69

In X-linked inheritance, the difference between the terms dominant and recessive is blurred by the Lyon effect. In some X-linked recessive genodermatoses, the Lyon effect makes the detection of heterozygote females possible, either by clinical cromanifestations or by enzymatic demonstration of two functionally different populations of cells. The gene locus of X-linked recessive ichthyosis, however, escapes X-inactivation, but heterozygotes can be detected by enzyme analysis in this condition, too. X-linked dominant gene defects with manifestation in both sexes include keratosis follicularis spinulosa decalvans, and probably also the Bazex syndrome. The group of X-linked dominant gene defects with lethality in the male comprises incontinentia pigmenti, focal dermal hypoplasia, the oral-facial-digital syndrome and the CHILD syndrome. Prenatal diagnosis of severe X-linked conditions can be performed when the underlying defect of cell function is known (Fabry disease, Menkes syndrome). In other severe X-linked disorders, the possibility of prenatal determination of the sex may be considered (Wiskott-Aldrich syndrome, X-linked dominant chondrodysplasia punctata, oral-facial-digital syndrome).
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PMID:[X-chromosome-linked hereditary dermatoses]. 680 14


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