Ectodermal Dysplasia Associated with Sickle Cell Disease

Abstract

Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

Etiología, manifestaciones clínicas y estudio por imágenes de la displasia ectodérmica: Una revisión de la literatura

“…El tratamiento debe realizarse en forma individual tan pronto como sea posible, dependiendo de la edad, la agenesia dental, el grado de malformación de los dientes, el crecimiento y desarrollo del sistema estomatognático y la motivación del paciente, dirigido a mantener la dentición presente y las crestas alveolares, ya que estas estructuras tendrán que soportar prótesis toda la vida (10)(11)(12).…”

The role of the dentist in the diagnosis of ectodermal dysplasia

“…The ectodermal dysplasia syndrome comprises a complex group of disorders [7][8] with more than 200 different forms identified 9 . Even so, it is considered a rare syndrome with an estimated frequency of 1: 100,000 births 10 , with male preference in a ratio of 5: 111 and a the most common forms of dysplasia are the hypohydrotic syndrome (also known as Clouston syndrome) and the anhidrotic syndrome (Christ SiemenTouraine syndrome), however the hypohydrotic presents more severity. What differs one form of disease from the other is the alteration degree in the glands and the genetic transmission 11 .…”