Family genealogy in ectodermal hypohidrotic dysplasia patient with inmunodefficiency. Case report
Keywords:
genodermatosis, ectodermal dysplasia, kappa nuclear factor, immunodeficiency, immunoglobulinsAbstract
Ectodermal dysplasias represent a heterogeneous group of disorders characterized by abnormal development of embryological derivatives with great genetic heterogeneity and variable expressivity. They are transmitted with X-linked inheritance, autosomal recessive and less frequently, dominant.
Patient information:The phenotypic delineation and family genealogy in a case with ectodermal hypohidrotic dysplasia with immunodeficiency was performed. On dysmorphological exam a dysmorphic pattern was identified given by dental and hair alterations: oligodontia, hypotriquia, sparse, brittle and hypopigmented hair, craniofacial dysmorphism and hypohidrosis. On the lab’s tests high IgE and low IgA levels were identified. She received treatment with antihistamines, prophylactic antibiotics and immunomodulators.
Conclusions: The phenotypic delineation of the case and the identified family history in the family genealogy, allowed us to make the diagnosis of ectodermal hypohidrotic dysplasia with immunodeficiency and to determine its inheritance pattern. With medical monitoring and treatment of the patient, better clinical and psychosocial outcomes will be achieved.
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References
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15 junio 2025
