Differential Diagnosis
The patient presents with a complex array of symptoms, including dermatological, musculoskeletal, gastrointestinal, neurological, and cardiovascular issues, alongside a history of ADHD and ASD. Given the broad spectrum of symptoms, a comprehensive differential diagnosis is necessary.
Single Most Likely Diagnosis
- Ehlers-Danlos Syndrome (EDS): This diagnosis is highly plausible due to the combination of hypermobile joints, frequent injuries, unstable joints, orthostatic hypotension, gastrointestinal issues (heartburn, acid reflux, stomach cramps, bloating, and gas), and the presence of bilateral piezogenic papules. EDS is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. The patient's symptoms of joint hypermobility, skin hyperextensibility, and tissue fragility (as suggested by hypertrophic scarring) align closely with the criteria for hypermobile EDS.
Other Likely Diagnoses
- Mast Cell Activation Syndrome (MCAS): Given the patient's history of frequent illnesses, skin issues (psoriasis, cystic acne), gastrointestinal symptoms, and orthostatic hypotension, MCAS is a possible diagnosis. MCAS involves the accumulation of mast cells and their mediators, leading to a wide range of symptoms affecting multiple systems.
- Postural Orthostatic Tachycardia Syndrome (POTS): While the patient mentions orthostatic hypotension, some symptoms like frequent illnesses, temperature intolerance, and chronic fatigue could also suggest POTS, especially if tachycardia is present upon standing.
- Gastroesophageal Reflux Disease (GERD): The symptoms of heartburn, acid reflux, and stomach cramps point towards GERD, which could be a contributing factor to the patient's gastrointestinal discomfort.
Do Not Miss Diagnoses
- Marfan Syndrome: Although less likely than EDS due to the absence of reported cardiac or significant ocular abnormalities, Marfan syndrome could explain some of the musculoskeletal and possibly the gastrointestinal symptoms. It's crucial to rule out Marfan due to its potential for life-threatening cardiovascular complications.
- Stickler Syndrome: This diagnosis could be considered due to the patient's myopia, joint issues, and potential for hearing loss, although the full spectrum of Stickler syndrome typically includes more pronounced ocular and facial abnormalities.
- Lymphatic Malformation: The presence of ear cysts and potential issues with fluid accumulation (as hinted at by frequent illnesses and possibly the blocked eustachian tubes) might suggest a lymphatic malformation, which could be a localized issue rather than a systemic condition.
Rare Diagnoses
- Pseudoxanthoma Elasticum (PXE): Characterized by skin, eye, and cardiovascular manifestations due to elastic fiber calcification, PXE could potentially explain some of the patient's skin and possibly gastrointestinal symptoms, although it's a rare condition.
- Cutis Laxa: This group of disorders affects the skin, causing it to hang loosely due to elasticity loss. While it might explain some skin symptoms, it's less likely to account for the full range of systemic issues presented.
- Hypermobile EDS with additional features suggestive of another EDS subtype or overlap syndrome: The complexity of the patient's presentation might indicate a need to consider overlap syndromes or atypical presentations of EDS, which could involve genetic testing for confirmation.
Given the complexity and the wide range of symptoms, a multidisciplinary approach involving dermatology, rheumatology, gastroenterology, neurology, and possibly genetics would be essential for a definitive diagnosis and management plan.