L. Ge, G. Monaro, W. Weninger
We present a case of a 66 year old Caucasian lady with a life- long history of treatment resistent severe atopic dermatitis. She has failed to respond to nbUVB, multiple immunosup- pressants, and anti-TNF monoclonal antibodies. Incidentally on peri-lesional skin from a BCC excision, it was noted that the patient had features of ectodermal dysplasia. Her clinical examination was that of severe generalised xerosis and eczematous eruptions involving face, trunk and limbs. On closer examination, it became apparent that the patient had dentures masking original pegged shaped teeth, subtle onychoschizia, absent axillary hair, and bilat- eral short 5th metacarpal bones. Speciﬁc targeted ques- tioning revealed lifelong hypohidrosis and intolerance to heat. Family history was positive for hypohidrosis and den- tal abnormalities in her father.
Histopathology of nasal alar peri-lesional skin showed hypoplastic eccrine glands, absent sebaceous glands and abnormal hair follicles.
The patient is currently enrolled in a Dupilumab clinical trial, and thus far, this is the only treatment that has improved her skin. She is currently undergoing genetic sequencing to identify the causative gene.