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1.
Asia Pacific Allergy ; (4): e3-2019.
Article in English | WPRIM | ID: wpr-750171

ABSTRACT

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.


Subject(s)
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
2.
Medical Education ; : 245-250, 2007.
Article in Japanese | WPRIM | ID: wpr-370002

ABSTRACT

Advances in genetic medicine has rapidly been applied to clinical practice. However, many medical students have not studied biology or genetics in high school. There is little chance to think in Japan medical education about how to treat genetic information appropriately in the setting of clinical medicine. The timing and contents of a clinical genetics education program in medical school has hardly been discussed in Japan. This paper discusses the clinical genetics educationduring the medical-science and clinical-medicine stages at Nippon Medical School.<BR>1) An exercise on information gathering and role-play (for 180 minutes) about color vision deficiency were performed during the second-year molecular genetics course.<BR>2) A clinical genetics course (45 minutes 18 classes) in the fourth year was started in 2002 as a part of an integrated medical curriculum with courses classified by organ system.<BR>3) This clinical genetics course included systematic lectures for knowledge acquisition, lectures by patient support groups, exercises in drawing pedigrees, role-play, and discussions of ethical issues. Students evaluated this course favorably.<BR>4) Some topics in clinical genetics can be effectively presented at an early stage of medical education as part of an introduction to medicine. To maximize the educational effects and increase the possibility that students understand the importance of medical genetics, clinical genetics education in medical school will be performed after the student have grasped a basic understanding of diseases through lectures about clinical subjects.

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