Archives: Conditions A-Z
Osteogenesis imperfecta
A heritable collagen disorder; bisphosphonates plus physiotherapy and orthopaedic care reduce fractures and improve function.
Paget disease of bone
Disordered bone remodeling causing enlarged, weak bones and deformity.
Paroxysmal nocturnal hemoglobinuria
An acquired clonal disorder of complement regulation; terminal complement and proximal C3 inhibitors control haemolysis.
Phelan-McDermid syndrome
Deletion involving SHANK3 with developmental delay, absent speech and autism features.
Pemphigus vulgaris
Autoimmune blistering disease with intraepidermal acantholysis affecting skin and mucosa.
Pheochromocytoma and paraganglioma
Catecholamine-secreting tumors of adrenal medulla or extra-adrenal paraganglia.
Polycythemia vera
Myeloproliferative neoplasm with erythrocytosis and thrombosis risk.
Prader-Willi syndrome
A genomic-imprinting disorder; growth hormone therapy and strict dietary management are central to care.
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