Endocrine Abstracts

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and hypodontia. Affected individuals tend to have sparse scalp and body hair (Hypohidrotic), absent teeth (hypodontia) or small and pointed teeth. HED is associated with distinctive facial features including a proeminent forehead, thick lips, and flattened bridge of the nose. These facial features can also be noted in acromegalic patients who developed gradually changes including enlargement of the forehead, and nose; and thickened lips. Here we describe a singular association of these two pathologies. A 27 year men with no prior medical history, presented with diabetic ketoacidosis. On further complaints, he reported increasing shoe size, intermittent headache. Acromegaly was suspected and was confirmed by elevated GH under hyperglycemia (0.8 ng/ml), and elevated IGF-1. Pituitary MRI was indicated. The intraoral examination revealed partial edentulism with a single tooth erupted in the lower jaw since childhood. Lips were everted. He had sparse, thin, lightly pigmented scalp hair. There was periorbital hyperpigmentation. When asked about a similar history in the family patient gave a positive history of his nieces (brother’s daughters) suffering from a similar complaint of edentulism. These findings matched typical features of anhidrotic ectodermal dysplasia. To our knowledge this is the first case of the literature reporting the association of Hypohidrotic ectodermal dysplasia with Acromegaly. These too pathologies can share some facial features. A minitious examination of acromegalic patient can reveal such underlying disease.