Format

Send to:

Choose Destination

Links from PubMed

Items: 4

1.

Hyperimmunoglobulin E syndrome

A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. [from NCI]

MedGen UID:
854488
Concept ID:
C3887645
Disease or Syndrome
2.

Hyperimmunoglobulin E syndrome

Autosomal dominant hyper IgE syndrome (AD-HIES) is a primary immune deficiency characterized by the classic triad of recurrent skin boils, cyst-forming pneumonias, and extreme elevations of serum IgE. It is now recognized that other common manifestations include eczema, mucocutaneous candidiasis, and several connective tissue and skeletal abnormalities. A rash in the newborn period subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatocoeles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. A characteristic facial appearance typically emerges in adolescence. Skeletal abnormalities include osteopenia, minimal trauma fractures, and scoliosis. Vascular abnormalities include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease; esophageal dysmotility; and rarely colonic perforations, some of which are associated with diverticuli. Fungal infection of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, but life span is often shortened. Most deaths are associated with Gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency. [from GTR]

MedGen UID:
43995
Concept ID:
C0022398
3.

Prominent forehead

Forward prominence of the entire forehead, due to protrusion of the frontal bone. [from HPO]

MedGen UID:
401234
Concept ID:
C1867446
Finding
4.

Prominent forehead

Forward prominence of the entire forehead, due to protrusion of the frontal bone. [from HPO]

MedGen UID:
373291
Concept ID:
C1837260
Finding
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center