Skin manifestations can be the first indication of an underlying systemic disease, such as neoplasia, autoimmune disorders, or infections. It is crucial to remain vigilant in identifying and considering less common diagnostic hypotheses, enabling the prompt exclusion of uncommon and potentially life-threatening conditions. We report a case of a 51-year-old man who presented with a lesion on the back of his left hand, generalized weakness, a feverish feeling. Laboratory analysis revealed severe pancytopenia. Both infectious and autoimmune causes were excluded. Further investigation with myelogram and bone biopsy revealed bone marrow infiltration by 80% hairy cell leukocytes, with immunophenotyping confirming a diagnosis of hairy cell leukemia (HCL). The patient required alternative treatment due to testing positive for SARS-CoV-2 during hospitalization. This case is particularly noteworthy as most patients with HCL are asymptomatic at diagnosis, also skin changes in pancytopenic patients are uncommon.

We present a 63-year-old female, who was referred for an internal medicine consultation due to an orbital mass accompanied by fatigue. After a wide investigation, encompassing the exclusion of infectious and malignant aetiologies, a diagnosis of sarcoidosis was assumed. However, despite this comprehensive evaluation and the initiation of immunosuppressive therapy, we observed a progression of the disease, with an extension of the orbital mass and persistent fatigue, along with multiorgan involvement. Therefore, this is a sarcoidosis case with an atypical manifestation and progression, rarely reported in literature. We pretend that it serves as a model of the challenges posed by this disease, explaining the various diagnosis hypotheses that we considered and the rationale behind their exclusion.

Amyloidosis is a systemic disease, with an incidence of 5-12 people per million per year. Autopsy studies suggest a higher incidence. Is characterized by deposition of amyloid fibrils in extracellular tissue of various organs and systems, and therefore with multiple possible presentations. The causative amyloid fibril deposits are of monoclonal light chain (AL) or transthyretin (TTR) in most cases. TTR amyloidosis may be acquired, associated with wild type TTR or hereditary (associated with variants in TTR gene (table 1). The AL amyloidosis condition can occur alone or associated with multiple myeloma or other B-cell dyscrasias. The main affected organs in AL amyloidosis are the heart, kidney, liver, gastrointestinal tract and the peripheral and autonomic nervous systems. Patients often present with non-specific symptoms, such as asthenia, weight loss, palpitations and syncopal attacks. Thus, diagnosis is usually delayed, and renal and cardiac failure can be forms of presentation. We report a case of a 68-year-old woman, who presented with new onset heart failure as the main presentation form of multiple myeloma with associated cardiac amyloidosis. This case highlights the need of a high level of suspicion in order establish an early diagnosis and initiate specific therapy, and therefore delay the development of this condition.

Mixed connective tissue disease (MCDT) is a rare condition characterised by the presence of high titres of anti-U1 ribonucleoprotein antibodies and selected clinical features of systemic lupus erythematosus, systemic sclerosis and polymyositis/dermatomyositis. Early symptoms are non-specific, including easy fatigability, myalgia, arthralgia and Raynaud's phenomenon. Some reports emphasised the favourable outcome and excellent response to glucocorticoids, but there are contradictory studies reporting worse prognosis. Also, a subset of patients evolve into a clinical picture more consistent with a major diffuse connective tissue disease. We present the case of a 50-year-old black woman whose inaugural presentation of MCDT was oropharyngeal dysphagia, symmetrical proximal muscle weakness, tongue atrophy and skin sclerosis. High-dose corticosteroids and methotrexate were given with little improvement, maintaining disabling dysphagia leading to a percutaneous endoscopic gastrostomy tube placement. She was then started on intravenous immunoglobulin with progressive remission of symptoms.