Anhidrotic ectodermal dysplasia (AED) is a rare hereditary disorder with a triad of sparse hair, dental hypoplasia, and anhidrosis. Here we report a case of AED with food allergy and atopic eczema. The patient was a 11-month-old boy admitted to our hospital with pyrexia for 2 weeks. He presented with a history of dry skin, eczema, and food allergy to egg. On clinical examination, his body temperature was 38.8°C, with dry skin and eczema almost all over the body, sparse eyebrows, and scalp hair. Laboratory investigations and physical examination did not show any evidence of infection. Radioallergosorbent test was positive to egg yolk, egg white, ovomucoid, milk, house dust, and house dust mite. As the child did not sweat despite the high fever, we performed the sweat test which revealed a total lack of sweat glands. Genetic examination revealed a mutation of the EDA gene and he was diagnosed as AED. His pyrexia improved upon cooling with ice and fan. His mother had lost 8 teeth and her sweat test demonstrated low sweating, suggestive of her being a carrier of AED. Atopy and immune deficiencies have been shown to have a higher prevalence in patients with AED. Disruption of the skin barrier in patients with AED make them more prone to allergic diseases such as atopic eczema, bronchial asthma, allergic rhinitis and food allergy. Careful assessment of the familial history is essential to differentiate AED when examining patients with pyrexia of unknown origin and comorbid allergic diseases.
Asthma ; Body Temperature ; Child ; Dermatitis, Atopic ; Dust ; Ectodermal Dysplasia ; Eczema ; Egg White ; Egg Yolk ; Eyebrows ; Fever ; Food Hypersensitivity ; Hair ; Humans ; Hypohidrosis ; Ice ; Infant ; Male ; Milk ; Mothers ; Ovomucin ; Ovum ; Physical Examination ; Prevalence ; Pyroglyphidae ; Radioallergosorbent Test ; Rhinitis, Allergic ; Scalp ; Skin ; Sweat ; Sweat Glands ; Sweating ; Tooth

A 45-year-old woman with moderate mitral regurgitation due to mitral valve prolapse developed respiratory discomfort after cellulitis and visited our hospital. Electrocardiogram showed ST elevation in V2, V3, V4 and serum creatinine kinase was high. Transthoracic echocardiogram revealed large mitral and aortic vegetation with severe valvular regurgitation and anterior wall motion asynergy. On computed tomography and magnetic resonance imaging, splenic infarction and right renal infarction cerebral infarction on right sided frontal white matter (1 cm in diameter) was revealed. These findings led to a diagnosis of acute heart failure due to severe regurgitation and coronary artery embolism with infective endocarditis, thus we performed an emergency cardiothoracic surgery. After general anesthesia, she suffered severe hypotension despite the injection of a high dose of catecholamine, then developed persistent ventricular tachycardia. We started cardiopulmonary resuscitation, and percutaneous cardiopulmonary support. After obtaining stable hemodynamic status, we performed surgery. The intraoperative examination showed vegetation (2 cm in diameter) on each aortic cusp, large vegetation on the anterior and posterior mitral leaflet, rupture of the posterior leaflet choreae tendineae, and vegetation on the wall of the left atrium. We performed maximal possible debridement of the infected tissue. Subsequently, we performed mitral valve replacement and aortic valve replacement, tricuspid annuloplasty. We finished surgery without cardiopulmonary support. After tight control, the patient was discharged on the 52nd postoperative day. The patient showed no recurrence of infection during 9 months of follow-up. Cases of coronary embolism with infective endocarditis are rare and have high mortality, and their treatment is still controversial.