Abstract Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder caused by mutations in the insulin receptor gene (INSR), resulting in severe insulin resistance. We report the case of an 8-year-old boy who presented with progressive acanthosis nigricans of the neck, coarse facial features, generalized hypertrichosis, dental abnormalities, a fissured tongue, thickened nails, penile hypertrophy, and hepatomegaly. Laboratory results indicated hyperinsulinemia, severe insulin resistance and fasting hypoglycemia. Based on the clinical and laboratory findings, Rabson–Mendenhall syndrome was considered. Genetic confirmation was not performed because it was unavailable in our country. This case highlights the importance of recognizing acanthosis nigricans as a clinical marker of inherited metabolic syndromes, and the important role of dermatologists in its early recognition.
Abstract Congenital insensitivity to pain with anhidrosis is a rare genetic disorder caused by mutations in the neurotrophic receptor tyrosine kinase 1 gene, characterized by absent pain perception and inability to sweat. Early recognition is essential to prevent severe complications. We report a seven-month-old boy presenting with poor growth, hypotonia, and delayed motor development. Initial metabolic and neuromuscular evaluations, including nerve conduction studies and brain imaging, were normal. His growth remained at the minus three standard deviation centile. By twelve months, additional features emerged, including self-injurious behavior, lack of response to injury, and reduced sweating. A positive family history prompted genetic testing, which confirmed a pathogenic variant in the neurotrophic receptor tyrosine kinase 1 gene. This case highlights that early nonspecific features may precede classical manifestations, emphasizing the importance of clinical vigilance, family history, and early genetic testing to enable timely multidisciplinary management.
Abstract Reproductive system congenital anomalies can have debilitating impacts on patient sexual function and reproductive capacity. We present the experience of a 26 year-old phenotypic female patient who identified as female with primary amenorrhea in the student-run free clinic (SRFC) setting. Following clinical evaluation, bloodwork noted an elevated testosterone level. Pelvic ultrasound demonstrated intact bilateral upper genitourinary tracts, bilateral adnexal masses without follicles, with absence of uterus, cervix and upper vagina. Subsequent pelvic magnetic resonance imaging confirmed these findings. Karyotype testing resulted 46XY, confirming androgen insensitivity syndrome. Urologic consultation was obtained, with plans for subsequent referral to a regional SRFC associated with a multi-disciplinary team specializing in reproductive tract anomalies. Unfortunately, despite approvals for charity care and extensive care coordination between the patient and our SRFC, the patient ultimately was lost to follow-up. Despite this suboptimal outcome, this experience provided valuable exposure to rethink how both our SRFCs and others can evolve operations into effective care systems for similar patients in the future. Lessons accrued here provided opportunities to reflect on how to develop a standardized referral and operational framework generalizable to other SRFCs who may care for similar patients.
Abstract Combined central and peripheral demyelination is a rare but serious neurological condition that is associated with poor outcomes. We report a 31-year-old male presenting with rapidly progressive Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) variant of Guillain–Barré syndrome following an upper respiratory tract infection. The course was complicated by respiratory failure requiring intubation and significant autonomic dysfunction. Despite treatment with intravenous immunoglobulin, there was minimal clinical improvement. Further imaging of the central nervous system revealed multiple acute demyelinating lesions involving the brain and spinal cord. The patient subsequently received plasmapheresis and high-dose intravenous steroids without significant neurological recovery. A severe hospital-acquired infection delayed rituximab initiation until four months after symptom onset; however, neurological recovery remained minimal. This case highlights the rare coexistence of post-infectious central and peripheral demyelination. Early recognition of central involvement in patients with poor response to standard GBS therapy may help guide escalation of immunotherapy and potentially improve outcomes.
Abstract Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis that can mimic seronegative rheumatoid arthritis through destructive inflammatory arthritis and papulonodular skin lesions. We report a 44-year-old woman with progressive polyarthritis, purplish papulonodular lesions and destructive erosive disease of the hands and feet. Rheumatoid factor, anti-cyclic citrullinated peptide antibody and antinuclear antibody were negative. Radiographs showed sharply demarcated erosions with prominent distal interphalangeal involvement, and skin biopsy confirmed MRH. Available malignancy screening, including oncology review, mammography, cervical screening and blood tests, was reassuring, although planned PET-CT was not completed due to loss to follow-up. Methotrexate and corticosteroids were not tolerated, certolizumab produced partial response, and upadacitinib led to modest cutaneous improvement but persistent active synovitis at four months. This case highlights MRH as a diagnostic mimic of seronegative rheumatoid arthritis and illustrates discordant treatment response to JAK inhibition.
