Two-year-old boy with sparse hair

Our patient was born full term and with no complications from non-consanguineous healthy parents. He was referred to the paediatrics department at 2 years of age for sparse hair. He had a history of recurrent and unexplained fever since he was 3 months old. He was unable to sweat and had dry skin. The maternal uncle of the proband, aged 20 years has the same complaint. On examination, the growth and the mental development were normal. He had skin, hair (figure 1) and teeth (figure 2) abnormalities. His temperature was 38.3°C. The rest of the examination was unremarkable. Screening for sepsis was negative. Test your knowledge What are the most likely diagnoses? Incontinentia pigmenti Keratitis-ichthyosis-deafness (KID) syndrome Christ-Siemens-Touraine (CST) syndrome Anhidrotic ectodermal dysplasia (ED) with T cell immunodeficiency Hypohidrotic ED with immunodeficiency Which investigation(s) would you perform? Sweat...
Source: Archives of Disease in Childhood - Education and Practice - Category: Pediatrics Authors: Tags: Epilogue Source Type: research