Archives: Conditions A-Z
Epidermolysis bullosa
Group of disorders with extreme skin fragility and blistering from minor trauma; severe types cause scarring and SCC risk.
Fibrous dysplasia
Replacement of bone by fibrous tissue, isolated or with endocrinopathy and skin pigmentation.
Fibrodysplasia ossificans progressiva
Progressive heterotopic ossification of soft tissue, with characteristic great-toe malformation.
Ehlers-Danlos syndromes
Heritable connective-tissue disorders with joint hypermobility, skin hyperextensibility and tissue fragility; vascular type carries arterial rupture risk.
DiGeorge syndrome
Microdeletion disorder with thymic hypoplasia, cardiac defects, hypocalcemia and facial features.
Common variable immunodeficiency
Commonest symptomatic primary antibody deficiency with low immunoglobulins and recurrent infections.
Glucose-6-phosphate dehydrogenase deficiency
Enzyme deficiency causing oxidative hemolysis triggered by drugs, infection or fava beans.
Diamond-Blackfan anemia
Inherited pure red cell aplasia with congenital anomalies.