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Recent Findings from PGIMS Highlight Research in Dermatology

2013 JAN 4 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- Fresh data on Dermatology are presented in a new report. According to news reporting from Haryana, India, by NewsRx journalists, research stated, "Menkes kinky hair syndrome, also known as trichopoliodystrophy, is a rare X-linked recessive, progressive neurodegenerative disorder characterized clinically by progressive psychomotor impairment, treatment-refractory seizures, and hair shaft abnormalities, most commonly pilli torti. The condition is related to a mutation in a copper transporting gene, located in the X-chromosome, resulting in deficiency of copper dependent enzymes."

The news correspondents obtained a quote from the research from PGIMS, "The diagnosis can be confirmed by a low plasma level of copper and ceruloplasmin. The prognosis of classical Menkes disease is poor. We report a case of Menkes kinky hair disease with characteristic clinical, laboratory, and radiological findings with significant macrocephaly (above 95th percentile for age)."

According to the news reporters, the research concluded: "Reporting of this case is of significance because of its rarity and association with significant macrocephaly."

For more information on this research see: Menkes kinky hair syndrome: A case report. Dermatology Online Journal [electronic Resource], 2012;18(11):4.

Our news journalists report that additional information may be obtained by contacting S. Ghosh, PGIMS, Rohtak, Haryana, India.

Keywords for this news article include: Asia, India, Haryana, Genetics, Dermatology, Hair Diseases, Skin Diseases, Menkes Disease, Inborn Brain Diseases, Neurologic Manifestations, Menkes Kinky Hair Syndrome, Neurodegenerative Diseases, X Linked Mental Retardation, Inborn Errors Metal Metabolism, Neurobehavioral Manifestations, Central Nervous System Diseases.

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