Rare disease in neonatology: Ectodermal dysplasia as Christ – Siemens – Touraine syndrome

Christ – Siemens – Touraine syndrome is a genetically determined disease, mainly of males, the female is carriers of the pathogenic gene. The incidence of the disease has not been precisely established, according to modern data 1 case on 5 000–10 000 newborns, in female carriers 17 cases 100 000. Usually, the syndrome is inherited linked to gender, but autosomal and spontaneous forms are possible. There is a mutation of the EDA1 gene encoding the synthesis of ectodysplasin-A. As a result, epithelial and mesenchymal interactions are disrupted, leading to a lack of regulation of the formation of epithelial appendages. There are phenotypic specific features: thick lips, triangular lower jaw, wide saddle-shaped bridge of the nose and deformed low-set ear, wide cheekbones, fine wrinkled and hyperpigmented skin around the eyes, agenesis of the mammary glands in women. A clinical triad of signs is characteristic: hypotrichosis/atrichosis (thin, light, dry hair); hypodontia/anodontia (conical teeth); hypohidrosis/anhidrosis (a condition that threatens the death of a child due to hyperthermia). The authors presented a clinical case of hereditary Christ – Siemens – Touraine syndrome in a newborn child. The documentation was used when writing the article, we was used the medical history of the department of pathology of newborn children and young children of Tyumen regional clinical hospital No. 2 and was analyzed scientific articles about this theme in the open scientific databases, such as PubMed, Elsiver, Springer and Russian scientific electronic library. The presence of specific phenotypic and clinical signs makes it possible to diagnose the syndrome immediately after birth. Based on the datas of medical history, a burdened genealogical history, the initial the patient examination allowed to identify numerous stigmas of dysembriogenesis and malformations that confirmed the rare hereditary Christ – Siemens – Touraine syndrome. Christ-Siemens-Touraine syndrome is a risk factor for skin diseases, respiratory system and teeth, which must be taken into account for early diagnosis and determination of further patient management tactics by a pediatrician, dermatologist and dentist.