Archives: Conditions A-Z

Gitelman syndrome

Salt-wasting distal tubulopathy with hypokalemia, hypomagnesemia and hypocalciuria.

Focal segmental glomerulosclerosis

Pattern of glomerular scarring causing nephrotic-range proteinuria and progressive renal failure.

Erdheim-Chester disease

Rare non-Langerhans histiocytosis with multisystem xanthogranulomatous infiltration.

Diffuse intrinsic pontine glioma

Aggressive, inoperable pediatric brainstem glioma with very poor prognosis.

Gastrointestinal stromal tumor

Mesenchymal tumor of the GI tract driven by KIT/PDGFRA mutations.

Ewing sarcoma

Aggressive bone/soft-tissue sarcoma of children and young adults.

Cutaneous T-cell lymphoma

Indolent-to-aggressive lymphoma of skin-homing T cells presenting with patches, plaques and tumors.

Generalized pustular psoriasis

Severe systemic pustular variant of psoriasis with flares of widespread sterile pustules and fever.