LymphedemaV1, Main, Merge, bibRecord, 00A598

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

Identifieur interne : 00A598 ( Main/Merge ); précédent : 00A597; suivant : 00A599

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

Auteurs : S. Mansour [Royaume-Uni] ; H. Woffendin [Royaume-Uni] ; S. Mitton [Royaume-Uni] ; I. Jeffery [Royaume-Uni] ; T. Jakins [Royaume-Uni] ; S. Kenwrick [Royaume-Uni] ; V. A. Murday [Royaume-Uni]

Source :

American journal of medical genetics [ 0148-7299 ] ; 2001.

RBID : Pascal:01-0190025

Descripteurs français

Pascal (Inist)
- Incontinentia pigmenti, Etude cas, Homme, Dysplasie ectodermique anhidrotique, Association morbide, Phénotype, Ostéosclérose, Etude familiale, Infection, Lymphoedème, Survie, Mâle, Immunodéficit, Pathogénie, Déterminisme génétique, Hémopathie, Membre inférieur, Récidivant, Mutation, Gène, Dermatose bulleuse, Poil, Facteur transcription NFκB.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Anhidrotic ectodermal dysplasia, Bullous dermatosis, Case study, Concomitant disease, Family study, Gene, Genetic determinism, Hair, Hemopathy, Human, Immune deficiency, Incontinentia pigmenti, Infection, Lower limb, Lymphedema, Male, Mutation, Osteosclerosis, Pathogenesis, Phenotype, Recurrent, Survival, Transcription factor NFκB.

Abstract

Familial Incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems. The diagnosis has traditionally been made on clinical grounds. Segregation analysis has suggested that it is lethal in males. Only one liveborn male has been reported who died at one day of age. Female cases of IP survive because of the moderating effects of Lyonization. This child was the affected son of a female with IP. He had a novel phenotype consistent with hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) but with additional features: he had major problems with hematological disturbances, failure to thrive due to malabsorption, recurrent infections, generalized osteosclerosis and lymphedema of his lower limbs. He also demonstrated some typical features of IP with a generalized reticular skin hyperpigmentation, sparse hair and delayed eruption of teeth. The gene for NEMO (NF-κB Essential Modulator) has recently been shown to be mutated in cases of IP. Furthermore, most (80%) of patients possess a recurrent genomic rearrangement that deletes part of the gene resulting in an inactive NEMO protein. In the male case described here, a NEMO stop codon mutation has been identified that has arisen de novo in his affected mother. This mutation is likely to have a less severe effect on NEMO activity and may explain why this child survived for two years and 7 months.

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Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anhidrotic ectodermal dysplasia</term>
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<term>Case study</term>
<term>Concomitant disease</term>
<term>Family study</term>
<term>Gene</term>
<term>Genetic determinism</term>
<term>Hair</term>
<term>Hemopathy</term>
<term>Human</term>
<term>Immune deficiency</term>
<term>Incontinentia pigmenti</term>
<term>Infection</term>
<term>Lower limb</term>
<term>Lymphedema</term>
<term>Male</term>
<term>Mutation</term>
<term>Osteosclerosis</term>
<term>Pathogenesis</term>
<term>Phenotype</term>
<term>Recurrent</term>
<term>Survival</term>
<term>Transcription factor NFκB</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Incontinentia pigmenti</term>
<term>Etude cas</term>
<term>Homme</term>
<term>Dysplasie ectodermique anhidrotique</term>
<term>Association morbide</term>
<term>Phénotype</term>
<term>Ostéosclérose</term>
<term>Etude familiale</term>
<term>Infection</term>
<term>Lymphoedème</term>
<term>Survie</term>
<term>Mâle</term>
<term>Immunodéficit</term>
<term>Pathogénie</term>
<term>Déterminisme génétique</term>
<term>Hémopathie</term>
<term>Membre inférieur</term>
<term>Récidivant</term>
<term>Mutation</term>
<term>Gène</term>
<term>Dermatose bulleuse</term>
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<term>Facteur transcription NFκB</term>
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<front><div type="abstract" xml:lang="en">Familial Incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems. The diagnosis has traditionally been made on clinical grounds. Segregation analysis has suggested that it is lethal in males. Only one liveborn male has been reported who died at one day of age. Female cases of IP survive because of the moderating effects of Lyonization. This child was the affected son of a female with IP. He had a novel phenotype consistent with hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) but with additional features: he had major problems with hematological disturbances, failure to thrive due to malabsorption, recurrent infections, generalized osteosclerosis and lymphedema of his lower limbs. He also demonstrated some typical features of IP with a generalized reticular skin hyperpigmentation, sparse hair and delayed eruption of teeth. The gene for NEMO (NF-κB Essential Modulator) has recently been shown to be mutated in cases of IP. Furthermore, most (80%) of patients possess a recurrent genomic rearrangement that deletes part of the gene resulting in an inactive NEMO protein. In the male case described here, a NEMO stop codon mutation has been identified that has arisen de novo in his affected mother. This mutation is likely to have a less severe effect on NEMO activity and may explain why this child survived for two years and 7 months.</div>
</front>
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<name sortKey="Mitton, S" sort="Mitton, S" uniqKey="Mitton S" first="S." last="Mitton">S. Mitton</name>
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Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri