Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
Identifieur interne : 009E93 ( Main/Exploration ); précédent : 009E92; suivant : 009E94Incontinentia 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 ] ; 2001-03-01.
Descripteurs français
- KwdFr :
- Absorption intestinale, Chromosome X, Codon stop, Dysplasie ectodermique (), Dysplasie ectodermique (génétique), Dysplasie ectodermique (physiopathologie), Femelle, Humains, Hypohidrose (), Hypohidrose (génétique), Hypohidrose (physiopathologie), Hémopathies (), I-kappa B Kinase, Incontinentia pigmenti (), Incontinentia pigmenti (génétique), Incontinentia pigmenti (physiopathologie), Infection (étiologie), Lymphoedème (), Mutation, Mâle, Nouveau-né, Protein-Serine-Threonine Kinases (génétique), Récidive, Survivants.
- MESH :
- génétique : Dysplasie ectodermique, Hypohidrose, Incontinentia pigmenti, Protein-Serine-Threonine Kinases.
- physiopathologie : Dysplasie ectodermique, Hypohidrose, Incontinentia pigmenti.
- étiologie : Infection.
- Pascal (Inist)
- Absorption intestinale, Association morbide, Chromosome X, Codon stop, Dermatose bulleuse, Dysplasie ectodermique, Dysplasie ectodermique anhidrotique, Déterminisme génétique, Etude cas, Etude familiale, Facteur transcription NFκB, Femelle, Gène, Homme, Humains, Hypohidrose, Hémopathie, Hémopathies, I-kappa B Kinase, Immunodéficit, Incontinentia pigmenti, Infection, Lymphoedème, Membre inférieur, Mutation, Mâle, Nouveau-né, Ostéosclérose, Pathogénie, Phénotype, Poil, Récidivant, Récidive, Survie, Survivants.
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Anhidrotic ectodermal dysplasia, Bullous dermatosis, Case study, Codon, Terminator, Concomitant disease, Ectodermal Dysplasia (complications), Ectodermal Dysplasia (genetics), Ectodermal Dysplasia (physiopathology), Family study, Female, Gene, Genetic determinism, Hair, Hematologic Diseases (complications), Hemopathy, Human, Humans, Hypohidrosis (complications), Hypohidrosis (genetics), Hypohidrosis (physiopathology), I-kappa B Kinase, Immune deficiency, Incontinentia Pigmenti (complications), Incontinentia Pigmenti (genetics), Incontinentia Pigmenti (physiopathology), Incontinentia pigmenti, Infant, Newborn, Infection, Infection (etiology), Intestinal Absorption, Lower limb, Lymphedema, Lymphedema (complications), Male, Mutation, Osteosclerosis, Pathogenesis, Phenotype, Protein-Serine-Threonine Kinases (genetics), Recurrence, Recurrent, Survival, Survivors, Transcription factor NFκB, X Chromosome.
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- chemical : Codon, Terminator, I-kappa B Kinase.
- complications : Ectodermal Dysplasia, Hematologic Diseases, Hypohidrosis, Incontinentia Pigmenti, Lymphedema.
- etiology : Infection.
- genetics : Ectodermal Dysplasia, Hypohidrosis, Incontinentia Pigmenti.
- physiopathology : Ectodermal Dysplasia, Hypohidrosis, Incontinentia Pigmenti.
- Female, Humans, Infant, Newborn, Intestinal Absorption, Male, Mutation, Recurrence, Survivors, X Chromosome.
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. © 2001 Wiley‐Liss. Inc.
Url:
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1155>3.0.CO;2-Y
Affiliations:
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when="2001-03-01">2001-03-01</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anhidrotic ectodermal dysplasia</term><term>Bullous dermatosis</term><term>Case study</term><term>Codon, Terminator</term><term>Concomitant disease</term><term>Ectodermal Dysplasia (complications)</term><term>Ectodermal Dysplasia (genetics)</term><term>Ectodermal Dysplasia (physiopathology)</term><term>Family study</term><term>Female</term><term>Gene</term><term>Genetic determinism</term><term>Hair</term><term>Hematologic Diseases (complications)</term><term>Hemopathy</term><term>Human</term><term>Humans</term><term>Hypohidrosis (complications)</term><term>Hypohidrosis (genetics)</term><term>Hypohidrosis (physiopathology)</term><term>I-kappa B Kinase</term><term>Immune deficiency</term><term>Incontinentia Pigmenti (complications)</term><term>Incontinentia Pigmenti (genetics)</term><term>Incontinentia Pigmenti (physiopathology)</term><term>Incontinentia pigmenti</term><term>Infant, Newborn</term><term>Infection</term><term>Infection (etiology)</term><term>Intestinal Absorption</term><term>Lower limb</term><term>Lymphedema</term><term>Lymphedema (complications)</term><term>Male</term><term>Mutation</term><term>Osteosclerosis</term><term>Pathogenesis</term><term>Phenotype</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Recurrence</term><term>Recurrent</term><term>Survival</term><term>Survivors</term><term>Transcription factor NFκB</term><term>X Chromosome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Absorption intestinale</term><term>Chromosome X</term><term>Codon stop</term><term>Dysplasie ectodermique ()</term><term>Dysplasie ectodermique (génétique)</term><term>Dysplasie ectodermique (physiopathologie)</term><term>Femelle</term><term>Humains</term><term>Hypohidrose ()</term><term>Hypohidrose (génétique)</term><term>Hypohidrose (physiopathologie)</term><term>Hémopathies ()</term><term>I-kappa B Kinase</term><term>Incontinentia pigmenti ()</term><term>Incontinentia pigmenti (génétique)</term><term>Incontinentia pigmenti (physiopathologie)</term><term>Infection (étiologie)</term><term>Lymphoedème ()</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Protein-Serine-Threonine Kinases (génétique)</term><term>Récidive</term><term>Survivants</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Terminator</term><term>I-kappa B Kinase</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Hematologic Diseases</term><term>Hypohidrosis</term><term>Incontinentia Pigmenti</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Infection</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Hypohidrosis</term><term>Incontinentia Pigmenti</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dysplasie ectodermique</term><term>Hypohidrose</term><term>Incontinentia pigmenti</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Dysplasie ectodermique</term><term>Hypohidrose</term><term>Incontinentia pigmenti</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Hypohidrosis</term><term>Incontinentia Pigmenti</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Infection</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Infant, Newborn</term><term>Intestinal Absorption</term><term>Male</term><term>Mutation</term><term>Recurrence</term><term>Survivors</term><term>X Chromosome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Absorption intestinale</term><term>Association morbide</term><term>Chromosome X</term><term>Codon stop</term><term>Dermatose bulleuse</term><term>Dysplasie ectodermique</term><term>Dysplasie ectodermique anhidrotique</term><term>Déterminisme génétique</term><term>Etude cas</term><term>Etude familiale</term><term>Facteur transcription NFκB</term><term>Femelle</term><term>Gène</term><term>Homme</term><term>Humains</term><term>Hypohidrose</term><term>Hémopathie</term><term>Hémopathies</term><term>I-kappa B Kinase</term><term>Immunodéficit</term><term>Incontinentia pigmenti</term><term>Infection</term><term>Lymphoedème</term><term>Membre inférieur</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Ostéosclérose</term><term>Pathogénie</term><term>Phénotype</term><term>Poil</term><term>Récidivant</term><term>Récidive</term><term>Survie</term><term>Survivants</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><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. © 2001 Wiley‐Liss. Inc.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S." last="Mansour">S. Mansour</name></region><name sortKey="Jakins, T" sort="Jakins, T" uniqKey="Jakins T" first="T." last="Jakins">T. Jakins</name><name sortKey="Jeffery, I" sort="Jeffery, I" uniqKey="Jeffery I" first="I." last="Jeffery">I. Jeffery</name><name sortKey="Kenwrick, S" sort="Kenwrick, S" uniqKey="Kenwrick S" first="S." last="Kenwrick">S. Kenwrick</name><name sortKey="Mitton, S" sort="Mitton, S" uniqKey="Mitton S" first="S." last="Mitton">S. Mitton</name><name sortKey="Murday, V A" sort="Murday, V A" uniqKey="Murday V" first="V. A." last="Murday">V. A. Murday</name><name sortKey="Woffendin, H" sort="Woffendin, H" uniqKey="Woffendin H" first="H." last="Woffendin">H. Woffendin</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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