Hereditary hypohidrotic ectodermal dysplasia: report of a rare case

Abstract

Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

Keywords: Anodontia; Hereditary hypohidrotic ectodermal dysplasia (HHED); Hypodontia; Hypohidrosis; Hypotrichosis.

[Table/Fig-1]:

Facial profile of the patient showing receding hair line, scanty eyebrows and frontal bossing

[Table/Fig-2]:

Lateral profile of the patient showing depressed nasal bridge

[Table/Fig-3]:

Palm showing dry appearance

[Table/Fig-4]:

Intraoral picture showing completely edentulous lower arch and few teeth in upper arch

[Table/Fig-5]:

OPG showing absence of impacted teeth

[Table/Fig-6]:

Maternal grandmother with similar features