Ece Erci, Turkey
Hacettepe Ihsan Dogramacı Children’s Hospital PediatricsPresenter of 1 Presentation
PATIENTS WITH ECTODERMAL DYSTROPHY AND PRIMARY IMMUNODEFICIENCY
Abstract
Background and Aims
Ectodermal dysplasia/dystrophy(ED) is a disease shown to associate with primary immunodeficiencies(PID). ED classically consists of hair (hypotrichosis), tooth (anodontia/hypodontia) and sweat gland (anhydrosis/hypohidrosis) anomalies. The aim of our study is to identify the clinical findings and immunological characteristics of the patients with ED and to determine the treatment goals.
Methods
The clinical and laboratory findings of the patients with ED were evaluated between 01.08.2018 and 31.12.2018.
Results
We included nine patients (Male/Female=5/4). The median age at diagnosis was 13 years(4-51). Parental consanguinity ratio was 30%. Skin related(n=9), fever due to thermoregulation failure(n=4) were the most common clinical findings. The others were frequent upper respiratory tract infections(n=6), pneumonia(n=4), bronchiolitis(n=4). Six patients had hospitalized due to pneumonia. The most common hair findings were sparse(n=8), fine-stranded hair(n=4), alopecia(n=3). Hypothyroidism was the most common comorbidity(n=4). Others were systemic juvenile idiopathic arthritis(n=1), immune thrombocytopenic purpura (n=1), well-differentiated squamous cell carcinoma(n=1). The most common laboratory findings were lymphopenia (n=3) and hypogammaglobulinemia (n=3) which were recorded in 30% of the patients. Next generation molecular genetic study was done in 4 of the patients, and the defects (NFKB2, STAT1 GOF defects) were documented in two of the patients.
Conclusions
Early diagnosis of ED is important if it is associated with PID.Thus, early control of infections could be provided. In our study, the most common findings of ED are about hair, teeth and nail similar with the literature.The thermoregulation failure was found in 44% of the patients. The physicians should be aware that infections, autoimmune, inflammatory, allergic diseases and malignancies may accompany ED.