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)

Incontinentia pigmenti is a component of the Bloch-Sulzberger syndrome, which consists also of several major anomalies involving the central nervous system, skeleton, teeth, and the eye. Important manifestations include seizures, mental retardation, microcephaly, deformities of the skull and vertebrae, cleft palate, dystrophy of the nails, and abnormal or missing teeth. Although usually listed as a disease with which congenital cataract is associated, the more important ocular findings are those of the posterior segment, resembling lesions that enter into the differential diagnosis of the white pupil. The skin disturbance is characteristic and occurs very early in life; it may disappear entirely, obscuring the diagnosis if the ocular lesions are discovered later. The Bloch-Sulzberger syndrome usually is inherited as an X-linked dominant with lethality for males. It is a rare but important entity to the pediatric ophthalmologist.
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PMID:Ocular lesions in incontinentia pigmenti. 686 15

X-linked dominant inheritance with lethality in hemizygous males is a rare mode of inheritance. The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome). It is the purpose of this article to give a review of the clinical and genetic aspects of the above-mentioned diseases and to add those disorders in which this mode of inheritance is discussed. These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome. OTC deficiency is included in the study, although there is no lethality in utero, only in the neonatal period. A critical evaluation of the current literature is carried out.
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PMID:X-linked dominant inherited diseases with lethality in hemizygous males. 687 41

Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. To explain occasional sporadic IP males, the half chromatid mutation model (Gartler & Francke 1975) has been invoked (Lenz 1975). We here report four cases of American Indians with IP. Two girls had sporadic IP. One affected boy's mother had IP. This is the first report of mother-to-son transmission of IP, indicating that a male with an inherited whole chromatid mutation for IP can escape lethality.
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PMID:Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model. 711 73

The case of a patient with left ventricular endomyocardial fibrosis (EMF) causing severe mitral regurgitation is presented. Excision of the fibrotic tissue through the left atrium and mitral annuloplasty resulted in symptomatic relief and uncomplicated pregnancy. An X-linked congenital dermatological condition, Bloch-Sulzberger syndrome (incontinentia pigmenti), associated with chronic eosinophilia, was also present. This occurrence with EMF has not previously been reported. Atrioventricular valve reconstruction is a feasible alternative to valve replacement in EMF.
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PMID:Mitral annuloplasty in endomyocardial fibrosis: an alternative to valve replacement. 713 12

The observation of a 16-year-old girl born with an ectromelia and an ipsilateral inflammatory verrucous epidermal nevus led us to a synthetic study of 17 similar cases already published since 1927: all these cases concern female patients and are characterized by a unilateral hypoplastic dysplasia, most often of limbs, and inflammatory epidermal hyperplastic lesions described as ichthyosiform, psoriasiform or verrucous, usually distributed on the same side on the skin overlying the dysplastic body areas. The skin lesions may be partly regressive after birth and their histological features are suggestive of inflammatory linear verrucous epidermal nevus (I. L. V. E. N.). These associations may be representative of a special form of Solomon's syndrome whose heterogeneity has be recently emphasized. We propose to subdivide it in 3 forms: the epidermal nevus syndrome (Solomon's syndrome)--the organoid nevus syndrome (Schimmelpenning's syndrome)--the I. L. V. E. N. syndrome, probably X-linked dominant inherited (lethal for hemizygous males), associated with ipsilateral hypoplastic body lesions and, however less frequently than in the epidermal nevus syndrome, with ocular and nervous abnormalities. The distribution of cutaneous lesions has some similarities with the pattern of skin symptoms of X-linked dominant traits such as chondrodysplasia punctata, focal dermal hypoplasia or incontinentia pigmenti. The most typical feature of this syndrome is the strong inflammatory aspect of the epidermal nevus erroneously described in previous cases as unilateral psoriasis or ichthyosiform erythroderma.
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PMID:[Congenital homolateral epidermal hyperplasia and hypoplastic hemidysplasia (splitting of the Solomon's syndrome) (author's transl)]. 744 53

The ocular and cerebral abnormalities associated with incontinentia pigmenti, an X-linked dominant disease with characteristic cutaneous features, are far worse than the name would indicate. Although some patients have normal vision, total blindness or permanent visual deficiency may occur. Retinal vascular abnormalities, involving the periphery as well as the macula, appear to represent the primary disease process in the eye. Retinal detachment may then ensue, due to mechanisms that seem analogous to those of retinopathy of prematurity. Optic nerve atrophy and occipital lobe infarction are additional causes of severe visual dysfunction in some patients. For the first time, neonatal infarction of the macula is documented in this disease. The purpose of this report is to describe the visually disabling ocular and cerebral manifestations in five selected cases of incontinentia pigmenti.
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PMID:The blinding mechanisms of incontinentia pigmenti. 785 Feb 71

Incontinentia pigmenti (IP) is an unusual and fascinating disorder of the developing neuroectoderm. IP is an X-linked dominant disease characterized by congenital and age-related dermatologic abnormalities and significant neurological, ophthalmologic, and dental anomalies. Two distinct IP gene loci, IP1, mapped to Xp11.21, and IP2, mapped to Xq28, have been identified. The necessary prerequisites for cloning the IP1 gene by a positional cloning approach are available. Ten DNA markers have been mapped to a region between IP1 X-chromosomal translocation breakpoints within region Xp11.21. Approximately 60% of the 2,500-kb region between IP1 X-chromosomal translocation breakpoints has been cloned in yeast artificial chromosome clones.
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PMID:The molecular genetics of incontinentia pigmenti. 810 61

Incontinentia Pigmenti (IP) originally described by Bloch in 1992 and by Sultzberger in 1928 is also known as the Bloch-Sultzberger syndrome. IP is a rare genodermatosis occurring in most races, but almost exclusively among females. IP is manifested as a skin disease with blisters, warts and hyperpigmentation. About 80 percent of IP patients develop systematic manifestations in the form of serious complications involving the eyes, teeth, skeleton as well as alopecia and CNS dysfunction. IP is inherited as an X-linked dominant trait, though its aetiology is unknown at present. The article consists in a review of the most important literature on IP and includes a report of a case from the Nordic IP Association archives. As a large Nordic research project on IP is being planned the association is keen to contact more people with this rare disease.
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PMID:[Incontinentia pigmenti]. 812 91

Mosaic skin lesions following the lines of Blaschko are found in boys affected by incontinentia pigmenti (IP). For an X-linked gene defect, this is rather surprising. To explain the mosaic disease expression of IP in males, we propose that the disease is caused by an unstable pre-mutation, which normally remains silent in males during early embryogenesis. Occasionally "silencing" is incomplete and gives rise to clinical manifest IP reflecting a mosaic state of alleles with the full and the pre-mutation in the same patient. This model can account for mother-to-son transmission of IP and for disparate phenotypes in monozygotic female twins.
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PMID:Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males. 816 Jul 32

Bloch-Sulzberger incontinentia pigmenti (IP) is a rare X-linked neuroectodermal syndrome. Over 97% of the patients are female. We report on a male baby who developed blisters in linear groups or bands shortly after birth. When the child was 3 months old the blisters were followed by verrucous papules, which cleared after 1 year leaving areas of brownish grey hyperpigmentation. In addition to the skin involvement, our patient showed central motor dysfunction on the right side of the body and also dental and ocular anomalies. Both parents were in good health. Chromosome analysis yielded a normal karyotype (46, XY). The genes for coagulation factor VIII and biglycan in the Xq28 region were not deleted. The presence of the disease in this male infant may be due to an early somatic mutation or a half-chromatid mutation. A further possibility is mosaic expression of an unstable premutation. This model offers a good explanation for the reports in the literature of transmission of the disease from mother to son.
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PMID:[Incontinentia pigmenti in a male infant]. 827 92


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