Lymphedema Osteopetrosis Ectodermal
June 8, 2008
Department of Dermatology, Nottingham University Hospitals, Nottingham, UK. firstname.lastname@example.org
Genetic conditions are increasingly recognised as a cause of multisystem diseases in children. We report a 6-year-old boy with hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis and lymphoedema, associated with a novel mutation in the NF-κβ essential modulator (NEMO) gene. He is the longest surviving of three reported boys with these clinical features. Hypohidrotic ectodermal dysplasia, a congenital disorder of teeth, hair and eccrine sweat glands is most commonly inherited as an X-linked recessive trait. Associated immunodeficiency (HED-ID) may give rise to serious infections in early life. Mutations in the NEMO gene give rise to a heterogeneous group of disorders, including the X-linked dominant disorder incontinentia pigmenti. This is characterised by typical skin changes leading to linear pigmentary change and variable associated features; in males, prenatal death usually occurs. Our patient, like one if the previous cases and all of their mothers, demonstrates features of incontinentia pigmenti.
|ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID|
A number sign (#) is used with this entry because the phenotype is caused by hypomorphic mutations in NEMO (IKBKG; 300248).
Doffinger et al. (2001) examined 2 unrelated male patients who presented with the novel OL-EDA-ID syndrome. Both were sons of mothers with mild incontinentia pigmenti (308300), and both died of overwhelming multiple infections at 2.5 and 1.5 years of age, respectively. Both had osteopetrosis, lymphedema, and anhidrotic ectodermal dysplasia. Immunologic variables in the second patient showed a poor inflammatory response and increases in the levels of blood inflammatory markers with fever either absent or delayed during infection. Blood monocytes and polymorphonuclear cells were normal in number and morphology. The B- and T-cell counts and responses to vaccine protein antigens were normal. Serum titers of antibodies against S. pneumoniae were low, despite proven infection. Serum titers of isohemagglutinins were low. Serum levels of immunoglobulin isotypes were normal for age, with the exception of low to normal IgG levels. Both patients carried an X420W mutation in IKBKG, or NEMO (300248.0002). Different alleles were present at the flanking polymorphic loci in the 2 patients, indicating 2 independent mutational events. Both patients died of overwhelming infectious disease caused by a variety of microorganisms, including gram-positive cocci, gram-negative bacilli, mycobacteria, and fungi. There were impaired cellular responses to TNF-alpha (191160). Doffinger et al. (2001) compared the induction of IFN-gamma (147570) by peripheral blood mononuclear cells (PBMC) from one of the patients and a control. The patient's PBMC displayed a lower level of IFN-gamma production upon costimulation with IL12 (see 161560) and various concentrations of IL1-beta (147720) or IL18 (600953) than the control PBMC. There were impaired cellular responses to lipopolysaccharide in this patient. The patient also exhibited dissociated cellular responses to CD154 (CD40LG; 300386), suggesting that some but not all CD40 (109535)-mediated signals are NEMO-dependent in both dentritic cells and B cells.
Ada Hamosh : 3/2/2001
terry : 11/14/2001
alopez : 4/26/2001
alopez : 4/24/2001
alopez : 3/5/2001
alopez : 3/2/2001
Lymphedema Osteopetrosis EctodermalOsteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
PMID: 12042591 [PubMed - indexed for MEDLINE]
Ectodermal dysplasia with immunodeficiency and lymphedema, but not osteopetrosis, is
associated with a unique NF-kB Essential Modulator (NEMO) mutation.
Ectodermal dysplasia - Medline Plus
Ectodermal Dysplasia - eMedicine
X-Linked Ectodermal Dysplasia and Immunodeficiency Cause by Reversion Mosaicism of NEMO Reveals a Critical Role for NEMO in Human T-cell Deveopment and/or Survival.
A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation. - March 2006
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Ectodermal Dysplasia Society (1) United Kingdom
National Foundation for Ectodermal Dysplasias United States
Lymphedema People for secondary complication of Lymphedema
Classification and External Resources:
|Q82.4||Ectodermal dysplasia (anhidrotic)|
|Excludes:||Ellis-van Creveld syndrome
Basan's (hidrotic) ectodermal dysplasia 757.31
Bason's (hidrotic) ectodermal dysplasia 757.31
Clouston's (hidrotic) ectodermal dysplasia 757.31
Dysplasia - see also Anomaly
ectodermal (anhidrotic) (Bason) (Clouston's) (congenital) (Feinmesser) (hereditary) (hidrotic) (Marshall) (Robinson's) 757.31
hypohidrotic ectodermal 757.31
Ectodermal dysplasia, congenital 757.31
Feinmesser's (hidrotic) ectodermal dysplasia 757.31
Hypohidrotic ectodermal dysplasia 757.31
Marshall's (hidrotic) ectodermal dysplasia 757.31
Robinson's (hidrotic) ectodermal dysplasia 757.31
ectodermal dysplasia 757.31
Syndrome - see also Disease
Clouston's (hidrotic ectodermal dysplasia) 757.31
ectodermal dysplasia 757.31
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