Table 1.

Clinical features of hypohidrotic ectodermal dysplasia

System involved	Clinical features
Skin	Hypohidrosis, anhidrosis, heat intolerance, fever, dry, cracked skin, eczema, dermatitis
Hair	Hypotrichosis, dry, brittle, light coloured hair
Nail	Deformed, brittle, thin, ridged nails
Teeth	Hypodontia, anodontia, delayed dentition, wide spaced, pointed, discoloured teeth
Facial features	Frontal bossing, saddle nose, malar hypoplasia, mandibular hypoplasia
Otolaryngologic features	Hypoplastic alae nasi, atrophic rhinitis, ozena, pharyngitis, laryngitis, laryngeal mucous hyposecretion, vocal cord palsy, voice changes
Ophthalmic features	Dry eyes, corneal dryness, pannus, vascularisation and scarring, ankyloblepharon, blepharitis, trichiasis, loss of eyelashes and eyebrows, malformed meibomian glands
Respiratory features	Asthma, recurrent infections
Gastrointestinal features	Feeding difficulties, recurrent vomiting, chronic diarrhoea
Immune dysfunction	Depressed lymphocyte function, cellular immune hypofunction, increased susceptibility to recurrent nasal and respiratory infections. Allergic conditions as asthma, eczema, pruritus