There are also several cancers that have been shown to be linked with mutations in the AKT pathway, including melanoma and lung cancer. Pur-alpha
Pur-alpha (purα) is a sequence-specific single-stranded DNA and RNA-binding protein. Studies have shown that the protein is primarily active during early development and is believed to have a role in brain enlargement. Although the exact function is still controversial, it is believed that pur-alpha is responsible for neuronal proliferation during neurogenesis as well as the maturation of dendrites. Thus, pur-alpha is also considered a potential root cause of megalencephaly and brain overgrowth. Pathophysiology
One impact of megalencephaly is the complete lack of motor development. One medical study assessed three patients presenting megalencephaly who showed severely impaired motor and speech development as well as distinct facial abnormalities including skull bossing, a low nasal bridge and large eyes. Diagnoses
Diagnosis of megalencephaly has changed over the years, however, with the development of more advanced equipment, physicians have been able to confirm the disorder with better accuracy. Usually, a physical exam is first performed when characteristics of megalencephaly have appeared. This typically occurs at birth or during early child development. A physician will then take head measurements in order to determine the circumference. This is known as the head circumference. Then a family background will be recorded in order to determine if there has been a history of megalencephaly in the family.A neurological exam will then be performed using the technology of an MRI machine in order to confirm the diagnosis of megalencephaly.
Discrete papular lichen myxedematosus is a skin condition caused by fibroblasts producing abnormally large amounts of mucopolysaccharides characterized by the occurrence of waxy, flesh-colored papules. : 185

See also
Papular mucinosis
List of cutaneous conditions

References


== External links ==