Differential Diagnosis for 17 yo girl with dry skin, Badolato flies, joint discomfort, POTS, and mild tremors

• Single most likely diagnosis
  • Ehlers-Danlos Syndrome (EDS): This condition is characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. The presence of dry skin, joint discomfort, and POTS (Postural Orthostatic Tachycardia Syndrome) are common in EDS. Badolato flies, which are small, flying insects that land on the skin, may be attracted to the dry skin. Mild tremors can also be seen in EDS due to autonomic dysfunction.
• Other Likely diagnoses
  • Postural Orthostatic Tachycardia Syndrome (POTS): While POTS is already mentioned, it's essential to consider it as a separate diagnosis, as it can be primary or secondary to other conditions. The symptoms of joint discomfort, dry skin, and mild tremors can be associated with POTS.
  • Autonomic Dysfunction: This condition can cause POTS, joint discomfort, and mild tremors. Dry skin may be related to autonomic dysfunction, which can affect sweat gland function.
  • Hypermobility Spectrum Disorder: Similar to EDS, this condition is characterized by joint hypermobility, which can cause joint discomfort and POTS.
• Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
  • Multiple System Atrophy (MSA): Although rare in adolescents, MSA can cause autonomic dysfunction, leading to POTS, joint discomfort, and mild tremors. It's essential to consider MSA due to its poor prognosis if left untreated.
  • Parkinson's Disease: While uncommon in adolescents, Parkinson's disease can cause mild tremors, joint discomfort, and autonomic dysfunction, leading to POTS.
• Rare diagnoses
  • Mast Cell Activation Syndrome: This condition can cause a wide range of symptoms, including skin dryness, joint discomfort, POTS, and mild tremors.
  • Mitochondrial Myopathies: These disorders can cause muscle weakness, joint discomfort, and autonomic dysfunction, leading to POTS and mild tremors.