A 14-year-old with an odd facial rash has vocal outbursts at school, especially when teased and at home when stressed. What’s wrong? Your Dx?
In the slide show above, follow Dr Schneider's step-by-step process to uncovering what's really wrong here.
A 14-year-old boy has been seen by several physicians who have failed to treat a perioral rash successfully. He is acting out at home and school and mother and son are miserable
The patient blames his behavior on the discomfort of the facial rash; his mother blames it on poor attitude and complains about his twitching and “barking” like a dog.
Patient has been treated by several clinicians for lip licking, with steroids, moisturizers, without effect. Behavioral and family issues have not been addressed.
The 14-year-old is teased at school for his habit of rapid blinking and has developed a nervous cough that resembles a “bark.” Ritalin was prescribed but had a negative effect.
Patient relaxes during exam. Notable signs: Diffuse perioral dryness, erythema without exanthema/enanthema; subtle hand twitching and clearing of the throat.
Impression: lip licking is a problem but subtle motor and vocal tics suggest other underlying mechanisms.
Physical examination: The tip of his tongue extend as far as the borders of the perioral dermatitis.
You have created a timeline for possible disease progression and have a presumptive diagnosis in mind; time for a consult with a neurologist who concurs with your impression.
What is your diagnosis: Temporal lobe epilepsy; petite mal seizures; ADHD/behavioral issues; Tourette syndrome; lip licking; Tourette and lip licking; none of these; need more information.
Diagnosis: Tourette syndrome and lip licking. Perioral dermatitis is best treated with oral tetracycline or topical metronidazole or erythromycin.
Tourette syndrome diagnostic criteria: onset before age 21y; recurrent, involuntary, rapid, purposeless motor movements; one+ vocal tics; periodic variation in symptom intensity; duration longer than 1y.
Tourette syndrome etiology: Evidence for dopaminergic involvement--dramatic response to neuroleptics (eg, haloperidol), exacerbations induced by stimulant medications; TS may be result of post-synaptic dopamine receptor hypersensitivity.
Tourette syndrome tics: motor, vocal, complex. May be initially very subtle, delaying diagnosis of tics and of Tourette
Tourette syndrome motor symptoms: Simple motor tics: fast, darting, and meaningless; eg, eye blinking, grimacing, nose twitching, lip pouting, shoulder shrugging, rapid jering of any part of the body; copropraxia, echopraxia.
Tourette syndrome complex motor symptoms: Hopping, clapping, touching objects arranging, gyrating, head banging, tongue thrusting, eye rolling, repetitive odd expressions, repetitive writing, tearing paper/books.
Tourette syndrome vocal tics: meaningless sounds and noises; Complex vocal tics: linguistically meaningful utterances such as words and phrases (ie, coprolalia, echolalia, and palilalia).
Tourette syndrome behavioral/developmental symptoms: ADHD, obsessive/compulsive disorder, self injury
Tourette syndrome treatment highlights: Multidisciplinary: neurology, child psychiatry, social work/PhD psychologist, pediatrician; medication is helpful, not curative.
On first impression, the 14-year-old patient appears to have a persistent perioral rash, likely related to lip licking. The reality turns out to be a lot more complicated.Like Dr Jonathan Schneider's other cases, The Boy who Barked illustrates that even when a diagnosis seems obvious, executing the basics, ie, a complete history, including family and psychosocial and behavioral details, and a comprehensive physical examination, may direct your suspicion in another direction.Â