Differential Diagnosis
The patient's symptoms of periungual erythema, loss of lunulas, fatigue, arachnodactyly, marfanoid habitus, and anal fissures suggest a complex clinical picture. Here's a categorized differential diagnosis:
Single most likely diagnosis
- Ehlers-Danlos Syndrome (EDS): This condition is characterized by hypermobile joints, skin hyperextensibility, and tissue fragility. The marfanoid habitus, arachnodactyly, and anal fissures (possibly due to constipation or bowel issues common in EDS) align with EDS. Periungual erythema and loss of lunulas can be seen in various connective tissue disorders, including EDS.
Other Likely diagnoses
- Marfan Syndrome: Although the patient has a marfanoid habitus, the presence of anal fissures and specific skin findings might lean more towards EDS. However, Marfan Syndrome should be considered due to the overlap in physical characteristics.
- Mixed Connective Tissue Disease (MCTD): This autoimmune disorder combines features of lupus, scleroderma, and rheumatoid arthritis. Periungual erythema, loss of lunulas, and fatigue could be indicative of MCTD, but the arachnodactyly and marfanoid habitus are less typical.
Do Not Miss
- Inflammatory Bowel Disease (IBD): The presence of anal fissures could indicate IBD, such as Crohn's disease or ulcerative colitis. Fatigue is also a common symptom in IBD. Although the other symptoms don't directly point to IBD, missing this diagnosis could lead to significant morbidity.
- Scurvy: Caused by vitamin C deficiency, scurvy can lead to fatigue, periungual erythema, and other skin changes. While less likely given the marfanoid features, scurvy is a diagnosis that should not be missed due to its potential for severe consequences if untreated.
Rare diagnoses
- Pseudoxanthoma Elasticum (PXE): A genetic disorder affecting the elastic fibers in the skin, eyes, and cardiovascular system. While it could explain some skin findings, it's less likely given the overall clinical picture.
- Stickler Syndrome: A genetic disorder with features including marfanoid habitus, eye problems, and sometimes skin findings. However, the specific combination of symptoms presented makes this a less likely diagnosis.