Ectodermal dysplasia (ED) falls under the rare heterogeneous group of ectodermal disorders that primarily affects skin, hair, nails, eccrine glands, and teeth. 

A report describes a case of an 11-year-old, male child, from Southern India, who presented with acute onset of high-grade fever 104°F, two episodes of non-bilious vomiting, decreased alertness, and irritability. He had a history of collapsing while actively playing outside in hot summer, along with having two episodes of non-bilious vomiting while presenting to the hospital. 

The boy was slightly drowsy, irritable with hot red skin, weak and thready pulse, heart rate (HR) - 140 beats/min, temperature - 104°F, respiratory rate (RR) - 26 breaths/min, and blood pressure (BP) - 90/60 mmHg. 

Examination revealed diffuse dry skin, which was red and hot without any sweating, lips were dry and everted, teeth were conical, widely spaced with poor enamel, and hair was thin, brittle, and sparse. Diffuse hyperpigmentation was observed around the eyes and nose. He was rendered a diagnosis of exertional heat illness secondary to his poor ability to sweat, high environmental temperature, and limited PO intake of water during playing. 

Cold sponging, tepid ice cube bathing, IV normal saline boluses, and maintenance IV fluids with added electrolytes were the utilized treatment modalities. 

His past history remained significant concerning recurrent episodes of similar fevers, dry skin, and exercise intolerance, especially in hot weather. Along with, abnormal teeth shape since infancy. His family history was unremarkable.

A clinical diagnosis of ED was made observing the recurrent episodes of intolerance to heat/hot climates, decreased/absent sweating in hot weather, characteristic features of widely spaced conical teeth, diffuse dry & hot skin, sparse hair on the scalp, absence of body hair. Heat exhaustion secondary to ED was given as the final diagnosis.

He was closely monitored and treated with supportive care, cold sponging, and vigorous IV hydration; and his condition improved in 2 days. 

His parents were informed and educated about the final diagnosis. They were explained about the possible predisposing risk factors, chronic management of eczema, dry skin, and the importance of close follow-up with the dentist and primary care physician. 

Source: Cureus. 2021;13(2):e13450. Published 2021 Feb 20. doi:10.7759/cureus.13450