{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T12:33:51Z","timestamp":1789475631757,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,2,14]],"date-time":"2013-02-14T00:00:00Z","timestamp":1360800000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2014,11]]},"abstract":"Abstract<\/jats:title>Osteopetrosis, lymphedema, hypohidrotic ectodermal dysplasia, and immunodeficiency (OL<\/jats:styled-content>\u2010HED<\/jats:styled-content>\u2010ID<\/jats:styled-content>) is a rare X<\/jats:styled-content>\u2010linked disorder with only three reported prior cases in the E<\/jats:styled-content>nglish\u2010language literature. We describe a case of OL<\/jats:styled-content>\u2010HED<\/jats:styled-content>\u2010ID<\/jats:styled-content> in a male infant who initially presented with congenital lymphedema, leukocytosis, and thrombocytopenia of unknown etiology at 7\u00a0days of age. He subsequently developed gram\u2010negative sepsis and multiple opportunistic infections including high\u2010level cytomegalovirus viremia and P<\/jats:styled-content>neumocystis jiroveci<\/jats:italic> 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<\/jats:styled-content>\u2010 and B<\/jats:styled-content>\u2010cell dysfunction. Genetic testing revealed a novel mutation in the nuclear factor kappa beta (NF\u2010KB) essential modulator (NEMO<\/jats:styled-content>) gene, confirming the diagnosis of OL<\/jats:styled-content>\u2010HED<\/jats:styled-content>\u2010ID<\/jats:styled-content>. Mutations in the NEMO<\/jats:styled-content> gene have been reported in association with hypohidrotic ectodermal dysplasia with immunodeficiency (HED<\/jats:styled-content>\u2010ID<\/jats:styled-content>), OL<\/jats:styled-content>\u2010HED<\/jats:styled-content>\u2010ID<\/jats:styled-content>, and incontinentia pigmenti. In this case, we report a novel mutation in the NEMO<\/jats:styled-content> gene associated with OL<\/jats:styled-content>\u2010HED<\/jats:styled-content>\u2010ID<\/jats:styled-content>. This article highlights the dermatologic manifestations of a rare disorder, OL<\/jats:styled-content>\u2010HED<\/jats:styled-content>\u2010ID<\/jats:styled-content>, and underscores the importance of early recognition and prompt intervention to prevent life\u2010threatening infections.<\/jats:p>","DOI":"10.1111\/pde.12103","type":"journal-article","created":{"date-parts":[[2013,2,14]],"date-time":"2013-02-14T07:28:39Z","timestamp":1360826919000},"page":"716-721","source":"Crossref","is-referenced-by-count":18,"title":["Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections"],"prefix":"10.1111","volume":"31","author":[{"given":"Valerie M.","family":"Carlberg","sequence":"first","affiliation":[{"name":"Department of Dermatology Oregon Health and Science University Portland Oregon"},{"name":"School of Medicine Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabra M.","family":"Lofgren","sequence":"additional","affiliation":[{"name":"Department of Dermatology Oregon Health and Science University Portland Oregon"},{"name":"Department of Pediatrics Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julianne A.","family":"Mann","sequence":"additional","affiliation":[{"name":"Department of Dermatology Oregon Health and Science University Portland Oregon"},{"name":"Department of Pediatrics Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jared P.","family":"Austin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Oregon Health and Science University Portland Oregon"},{"name":"Department of Pediatric Hospital Medicine Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"Nolt","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Oregon Health and Science University Portland Oregon"},{"name":"Department of Infectious Disease Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan B.","family":"Shereck","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Oregon Health and Science University Portland Oregon"},{"name":"Department of Hematology and Oncology Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blachy","family":"Davila\u2010Saldana","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Oregon Health and Science University Portland Oregon"},{"name":"Department of Hematology and Oncology Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Zonana","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Oregon Health and Science University Portland Oregon"},{"name":"Department of Molecular Medical Genetics Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfons L.","family":"Krol","sequence":"additional","affiliation":[{"name":"Department of Dermatology Oregon Health and Science University Portland Oregon"},{"name":"Department of Pediatrics Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,2,14]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"379","volume-title":"Pediatric Dermatology, 4th ed","author":"Bree 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