Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.
Identifieur interne : 005617 ( Ncbi/Curation ); précédent : 005616; suivant : 005618Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.
Auteurs : Valerie M. Carlberg [États-Unis] ; Sabra M. Lofgren ; Julianne A. Mann ; Jared P. Austin ; Dawn Nolt ; Evan B. Shereck ; Blachy Davila-Saldana ; Jonathan Zonana ; Alfons L. KrolSource :
- Pediatric dermatology [ 1525-1470 ]
Descripteurs français
- KwdFr :
- Dysplasie ectodermique (), Dysplasie ectodermique (génétique), Dysplasie ectodermique anhidrotique de type 1 (), Dysplasie ectodermique anhidrotique de type 1 (génétique), Déficits immunitaires (), Déficits immunitaires (génétique), Humains, Infections opportunistes (), Infections opportunistes (génétique), Lymphoedème (), Lymphoedème (génétique), Maladies génétiques liées au chromosome X (), Maladies génétiques liées au chromosome X (génétique), Mâle, Nouveau-né, Ostéopétrose (), Ostéopétrose (génétique).
- MESH :
- génétique : Dysplasie ectodermique, Dysplasie ectodermique anhidrotique de type 1, Déficits immunitaires, Infections opportunistes, Lymphoedème, Maladies génétiques liées au chromosome X, Ostéopétrose.
- Dysplasie ectodermique, Dysplasie ectodermique anhidrotique de type 1, Déficits immunitaires, Humains, Infections opportunistes, Lymphoedème, Maladies génétiques liées au chromosome X, Mâle, Nouveau-né, Ostéopétrose.
English descriptors
- KwdEn :
- Ectodermal Dysplasia (complications), Ectodermal Dysplasia (genetics), Ectodermal Dysplasia (therapy), Ectodermal Dysplasia 1, Anhidrotic (complications), Ectodermal Dysplasia 1, Anhidrotic (genetics), Ectodermal Dysplasia 1, Anhidrotic (therapy), Genetic Diseases, X-Linked (complications), Genetic Diseases, X-Linked (genetics), Genetic Diseases, X-Linked (therapy), Humans, Immunologic Deficiency Syndromes (complications), Immunologic Deficiency Syndromes (genetics), Immunologic Deficiency Syndromes (therapy), Infant, Newborn, Lymphedema (complications), Lymphedema (genetics), Lymphedema (therapy), Male, Opportunistic Infections (complications), Opportunistic Infections (genetics), Opportunistic Infections (therapy), Osteopetrosis (complications), Osteopetrosis (genetics), Osteopetrosis (therapy).
- MESH :
- complications : Ectodermal Dysplasia, Ectodermal Dysplasia 1, Anhidrotic, Genetic Diseases, X-Linked, Immunologic Deficiency Syndromes, Lymphedema, Opportunistic Infections, Osteopetrosis.
- genetics : Ectodermal Dysplasia, Ectodermal Dysplasia 1, Anhidrotic, Genetic Diseases, X-Linked, Immunologic Deficiency Syndromes, Lymphedema, Opportunistic Infections, Osteopetrosis.
- therapy : Ectodermal Dysplasia, Ectodermal Dysplasia 1, Anhidrotic, Genetic Diseases, X-Linked, Immunologic Deficiency Syndromes, Lymphedema, Opportunistic Infections, Osteopetrosis.
- Humans, Infant, Newborn, Male.
Abstract
Osteopetrosis, lymphedema, hypohidrotic ectodermal dysplasia, and immunodeficiency (OL-HED-ID) is a rare X-linked disorder with only three reported prior cases in the English-language literature. We describe a case of OL-HED-ID in a male infant who initially presented with congenital lymphedema, leukocytosis, and thrombocytopenia of unknown etiology at 7 days of age. He subsequently developed gram-negative sepsis and multiple opportunistic infections including high-level cytomegalovirus viremia and Pneumocystis jiroveci pneumonia. The infant was noted to have mildly xerotic skin, fine sparse hair, and periorbital wrinkling, all features suggestive of ectodermal dysplasia. Skeletal imaging showed findings consistent with osteopetrosis, and immunologic investigation revealed hypogammaglobulinemia and mixed T- and B-cell dysfunction. Genetic testing revealed a novel mutation in the nuclear factor kappa beta (NF-KB) essential modulator (NEMO) gene, confirming the diagnosis of OL-HED-ID. Mutations in the NEMO gene have been reported in association with hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID), OL-HED-ID, and incontinentia pigmenti. In this case, we report a novel mutation in the NEMO gene associated with OL-HED-ID. This article highlights the dermatologic manifestations of a rare disorder, OL-HED-ID, and underscores the importance of early recognition and prompt intervention to prevent life-threatening infections.
DOI: 10.1111/pde.12103
PubMed: 23405946
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Carlberg</name><affiliation wicri:level="2"><nlm:affiliation>Department of Dermatology, Oregon Health and Science University, Portland, Oregon; School of Medicine, Oregon Health and Science University, Portland, Oregon.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Oregon</region></placeName><wicri:cityArea>Department of Dermatology, Oregon Health and Science University, Portland, Oregon; School of Medicine, Oregon Health and Science University, Portland</wicri:cityArea></affiliation></author><author><name sortKey="Lofgren, Sabra M" sort="Lofgren, Sabra M" uniqKey="Lofgren S" first="Sabra M" last="Lofgren">Sabra M. Lofgren</name></author><author><name sortKey="Mann, Julianne A" sort="Mann, Julianne A" uniqKey="Mann J" first="Julianne A" last="Mann">Julianne A. Mann</name></author><author><name sortKey="Austin, Jared P" sort="Austin, Jared P" uniqKey="Austin J" first="Jared P" last="Austin">Jared P. 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Carlberg</name><affiliation wicri:level="2"><nlm:affiliation>Department of Dermatology, Oregon Health and Science University, Portland, Oregon; School of Medicine, Oregon Health and Science University, Portland, Oregon.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Oregon</region></placeName><wicri:cityArea>Department of Dermatology, Oregon Health and Science University, Portland, Oregon; School of Medicine, Oregon Health and Science University, Portland</wicri:cityArea></affiliation></author><author><name sortKey="Lofgren, Sabra M" sort="Lofgren, Sabra M" uniqKey="Lofgren S" first="Sabra M" last="Lofgren">Sabra M. Lofgren</name></author><author><name sortKey="Mann, Julianne A" sort="Mann, Julianne A" uniqKey="Mann J" first="Julianne A" last="Mann">Julianne A. Mann</name></author><author><name sortKey="Austin, Jared P" sort="Austin, Jared P" uniqKey="Austin J" first="Jared P" last="Austin">Jared P. Austin</name></author><author><name sortKey="Nolt, Dawn" sort="Nolt, Dawn" uniqKey="Nolt D" first="Dawn" last="Nolt">Dawn Nolt</name></author><author><name sortKey="Shereck, Evan B" sort="Shereck, Evan B" uniqKey="Shereck E" first="Evan B" last="Shereck">Evan B. Shereck</name></author><author><name sortKey="Davila Saldana, Blachy" sort="Davila Saldana, Blachy" uniqKey="Davila Saldana B" first="Blachy" last="Davila-Saldana">Blachy Davila-Saldana</name></author><author><name sortKey="Zonana, Jonathan" sort="Zonana, Jonathan" uniqKey="Zonana J" first="Jonathan" last="Zonana">Jonathan Zonana</name></author><author><name sortKey="Krol, Alfons L" sort="Krol, Alfons L" uniqKey="Krol A" first="Alfons L" last="Krol">Alfons L. Krol</name></author></analytic><series><title level="j">Pediatric dermatology</title><idno type="eISSN">1525-1470</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ectodermal Dysplasia (complications)</term><term>Ectodermal Dysplasia (genetics)</term><term>Ectodermal Dysplasia (therapy)</term><term>Ectodermal Dysplasia 1, Anhidrotic (complications)</term><term>Ectodermal Dysplasia 1, Anhidrotic (genetics)</term><term>Ectodermal Dysplasia 1, Anhidrotic (therapy)</term><term>Genetic Diseases, X-Linked (complications)</term><term>Genetic Diseases, X-Linked (genetics)</term><term>Genetic Diseases, X-Linked (therapy)</term><term>Humans</term><term>Immunologic Deficiency Syndromes (complications)</term><term>Immunologic Deficiency Syndromes (genetics)</term><term>Immunologic Deficiency Syndromes (therapy)</term><term>Infant, Newborn</term><term>Lymphedema (complications)</term><term>Lymphedema (genetics)</term><term>Lymphedema (therapy)</term><term>Male</term><term>Opportunistic Infections (complications)</term><term>Opportunistic Infections (genetics)</term><term>Opportunistic Infections (therapy)</term><term>Osteopetrosis (complications)</term><term>Osteopetrosis (genetics)</term><term>Osteopetrosis (therapy)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Dysplasie ectodermique ()</term><term>Dysplasie ectodermique (génétique)</term><term>Dysplasie ectodermique anhidrotique de type 1 ()</term><term>Dysplasie ectodermique anhidrotique de type 1 (génétique)</term><term>Déficits immunitaires ()</term><term>Déficits immunitaires (génétique)</term><term>Humains</term><term>Infections opportunistes ()</term><term>Infections opportunistes (génétique)</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Maladies génétiques liées au chromosome X ()</term><term>Maladies génétiques liées au chromosome X (génétique)</term><term>Mâle</term><term>Nouveau-né</term><term>Ostéopétrose ()</term><term>Ostéopétrose (génétique)</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Ectodermal Dysplasia 1, Anhidrotic</term><term>Genetic Diseases, X-Linked</term><term>Immunologic Deficiency Syndromes</term><term>Lymphedema</term><term>Opportunistic Infections</term><term>Osteopetrosis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Ectodermal Dysplasia 1, Anhidrotic</term><term>Genetic Diseases, X-Linked</term><term>Immunologic Deficiency Syndromes</term><term>Lymphedema</term><term>Opportunistic Infections</term><term>Osteopetrosis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dysplasie ectodermique</term><term>Dysplasie ectodermique anhidrotique de type 1</term><term>Déficits immunitaires</term><term>Infections opportunistes</term><term>Lymphoedème</term><term>Maladies génétiques liées au chromosome X</term><term>Ostéopétrose</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Ectodermal Dysplasia 1, Anhidrotic</term><term>Genetic Diseases, X-Linked</term><term>Immunologic Deficiency Syndromes</term><term>Lymphedema</term><term>Opportunistic Infections</term><term>Osteopetrosis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Infant, Newborn</term><term>Male</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Dysplasie ectodermique</term><term>Dysplasie ectodermique anhidrotique de type 1</term><term>Déficits immunitaires</term><term>Humains</term><term>Infections opportunistes</term><term>Lymphoedème</term><term>Maladies génétiques liées au chromosome X</term><term>Mâle</term><term>Nouveau-né</term><term>Ostéopétrose</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Osteopetrosis, lymphedema, hypohidrotic ectodermal dysplasia, and immunodeficiency (OL-HED-ID) is a rare X-linked disorder with only three reported prior cases in the English-language literature. We describe a case of OL-HED-ID in a male infant who initially presented with congenital lymphedema, leukocytosis, and thrombocytopenia of unknown etiology at 7 days of age. He subsequently developed gram-negative sepsis and multiple opportunistic infections including high-level cytomegalovirus viremia and Pneumocystis jiroveci pneumonia. The infant was noted to have mildly xerotic skin, fine sparse hair, and periorbital wrinkling, all features suggestive of ectodermal dysplasia. Skeletal imaging showed findings consistent with osteopetrosis, and immunologic investigation revealed hypogammaglobulinemia and mixed T- and B-cell dysfunction. Genetic testing revealed a novel mutation in the nuclear factor kappa beta (NF-KB) essential modulator (NEMO) gene, confirming the diagnosis of OL-HED-ID. Mutations in the NEMO gene have been reported in association with hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID), OL-HED-ID, and incontinentia pigmenti. In this case, we report a novel mutation in the NEMO gene associated with OL-HED-ID. This article highlights the dermatologic manifestations of a rare disorder, OL-HED-ID, and underscores the importance of early recognition and prompt intervention to prevent life-threatening infections.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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