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 of focal dermal hypoplasia (FDH) or Goltz syndrome is described. The patient is a black female infant whose syndrome was first diagnosed at birth. This is a disorder of the mesoectoderm which is manifested by pigmentary skin changes similar to other disease entities, eg, incontinentia pigmenti and Rothmund-Thomson disease, but it is easily confirmed by specific significant histologic findings. The characteristic features are all noted in this infant throughout her follow-up, viz, atrophy and linear pigmentation of the skin, localized alopecia, papilloma and marked syndactyly. FDH is an X-linked condition and any physician caring for children should consider this diagnosis of the illness of the patient (especially female) who presents with the above dermal and skeletal changes.
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PMID:Focal dermal hypoplasia. 58 73

Of 19 patients with incontinentia pigmenti, seven had a bizarre retinal anomaly that consisted of a zone of abnormal arteriovenous connections and preretinal fibrotic tissue at the temporal equator, with no perfusion peripheral to it. In one patient, the vascular changes progressed and required photocoagulation. This retinal lesion may represent an early stage of the pseudoglioma that so commonly is reported with this skin disease. Incontinentia pigmenti should be considered in the differential diagnosis of retinal vascular disease in girls and women of any age.
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PMID:Retinal vascular changes of incontinentia pigmenti. 126 51

A male infant with Klinefelter karyotype (47, XXY) manifested both the typical dermatologic findings of the X-linked dominant disorder incontinentia pigmenti (Bloch-Sulzberger syndrome) and ocular findings including retinal pigmentary changes, peripheral retinal avascularity, and preretinal fibrovascular proliferation. To our knowledge, this is the first reported case of incontinentia pigmenti with this specific abnormal genotype manifesting ocular findings.
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PMID:Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome. 143 5

Incontinentia pigmenti (IP) (Bloch-Sulzberger syndrome) is an X-linked dominant condition usually fatal in males. Shortly after birth affected girls present with a rash followed by pigmentary changes. Abnormalities of the central nervous system and dentition are often present, and ophthalmic problems develop in approximately one-third of patients. The authors present the pathological findings in the skin and eye in a young woman who required enucleation as a result of long-standing retinal detachment and closed-angle glaucoma. A review of published ocular pathology reports indicates that retinal detachment and a fibrovascular retrolental membrane are the commonest intraocular abnormalities in IP. Changes in the retinal pigment epithelium are also prominent, although whether these are primary or secondary remains to be established.
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PMID:Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features. 188 27

Incontinentia pigmenti (IP) is an X-linked dominant disorder characterized by developmental anomalies of the tissues and organs derived from embryonic ectoderm and neuroectoderm. An IP locus, designated IP1, probably resides in Xp11.21, since five unrelated patients with nonfamilial IP have been identified who possess constitutional de novo reciprocal X;autosome translocations involving Xp11.21. We have used a series of somatic cell hybrids containing the rearranged chromosomes derived from three of the five IP1 patients, along with other hybrid cell lines, to map probes in the vicinity of the IP1 locus. Five anonymous DNA loci--DXS422, DXS14, DXS343, DXS429, and DXS370--have been mapped to a region within Xp11.21, between two IP1 X-chromosomal translocation breakpoints; the IP1 t(X;17) breakpoint is proximal (centromeric) to this region, and the IP1 t(X;13) and t(X;9) X-chromosomal breakpoints lie distal to it. While no IP1 translocation breakpoint has yet been identified by pulsed-field gel electrophoretic (PFGE) analysis, an overlap between three probes--p58-1, 7PSH3.5, and cpX210--has been detected, placing these probes within 125 kb. Four probes--p58-1, 7PSH3.5, cpX210, and 30CE2.8--have been helpful in constructing a 1,250-kb PFGE map of the region between the breakpoints; these results suggest that the IP1 X-chromosomal translocation breakpoints are separated by at least this distance. The combined somatic cell hybrid and PFGE analyses we report here favor the probe order DXS323-(IP1 t(X;13), IP1, t(X;9]-(DXS422, DXS14, DXS343, DXS429, DXS370)-(IP1 t(X;17), DXZ1). These sequences provide a starting point for identifying overlapping genomic sequences that span the IP1 translocation breakpoints; the availability of IP1 translocation breakpoints should now assist the cloning of this locus.
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PMID:Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints. 198 63

Incontinentia pigmenti is a familial disorder affecting tissues derived from neuroectoderm. Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-linked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47,XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males.
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PMID:Incontinentia pigmenti in a male infant with Klinefelter syndrome. 271 49

Incontinentia pigmenti (IP) is a rare X-linked disease with marked female-to-female transmission and a dominant pattern of inheritance. Reports of six unrelated females with IP and X-autosomal translocations, all with the X breakpoint at Xp11, and an additional report of a female with IP and a 45,X/46,X,r(X) karyotype suggests that this may be the locus for the IP gene. When four of these cases, including the r(X), were re-examined with a non-isotopic in situ hybridization technique and an X centromere-specific probe (pSV2X5), the Xp11 breakpoint was confirmed. However, results from a fifth reported case, t(X;17), showed that the X breakpoint was within the centromeric alphoid repetitive sequences recognized by the probe pSV2X5. As the clinical presentation of this patient was consistent with the IP phenotype and diagnosis, the centromeric position of the X-chromosome breakpoint raises several questions with respect to the homogeneity of the Xp11 locus for IP.
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PMID:Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases. 292 Oct 37

A 27-year-old male with hypomelanosis of Ito (HI) is reported. One of his two children had a postaxial ray defect of one leg but neither had cutaneous features of HI. Somatic mosaicism for a gene defect lethal to ectodermal derivatives offers the best explanation for HI in males, with consequent negligible recurrence risk. The limb defect is considered coincidental. The excess of girls with HI could be due to a female cohort with incontinentia pigmenti (IP) which may be indistinguishable: counselling of females must therefore take account of possible X-linked inheritance.
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PMID:Genetic counselling in hypomelanosis of Ito: case report and review. 305 40

Seven members from a large family who showed signs of incontinentia pigmenti were examined. A clear X-linked dominant transmission was demonstrated, lethal in males. Study of this family shows that vascular abnormalities of the retina and disorders of the retinal pigment epithelium are the most important ocular lesions in the Bloch-Sulzberger syndrome.
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PMID:Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family. 311 88

Incontinentia pigmenti (IP) is a genodermatosis, which is of X-linked dominant transmission, uncommonly diagnosed in newborn babies. The skin lesions usually develop in 4 stages: inflammatory, hypertrophic, pigmentary and regressive. The authors report 2 cases of IP in female newborn babies who were previously treated for pyodermatitis.
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PMID:[Incontinentia pigmenti in 2 newborn infants]. 319 60


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