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Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood. [1] Symptoms may include weakness, trouble breathing, and loss of appetite. [ 1 ] Complications may include seizures , coma , rhabdomyolysis , or softening of the bones .
[1] [3] Other pregnancy associated skin diseases must be ruled out alongside obstetric cholestasis, which is a disorder that affects the liver during pregnancy. [6] There is a great deal of overlap between the following conditions in pregnancy: eczema, prurigo, and pruritic folliculitis. Because of this, they are grouped in a class called ...
Some skin changes are known to occur in people who are pregnant while other skin conditions, or dermatoses, that people have prior to getting pregnant will become altered or symptoms will increase. Pruritic urticarial papules and plaques of pregnancy (PUPPP) is one of many skin conditions that is specific to pregnancy and occurs in about 1 in ...
X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow-leggedness).
Oral phosphate and calcitriol may be given for treatment of hypophosphatemia. [18] For growth hormone excess, treatment with somatostatin analogues or pegvisomant may be effective. [22] Surgery may be an option, but may be complicated by the cranial abnormalities associated with the disorder.
Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
Hyperphosphatemia is an electrolyte disorder in which there is an elevated level of phosphate in the blood. [1] Most people have no symptoms while others develop calcium deposits in the soft tissue. [1] The disorder is often accompanied by low calcium blood levels, which can result in muscle spasms. [1]