Contrasting Menkes disease with Wilson disease and Trichotillomania (hair-pulling disorder)
Menkes disease - a congenital X-linked recessive connective tissue disorder that is caused by a defect in intestinal copper absorption leading to copper deficiency (a defective Menkes protein ATP7A). Low copper levels lead to decreased activity of lysyl oxidase (copper is a necessary cofactor) and defective collagen. This leads to progressive neurologic symptoms, hyperpigmentation of the skin, bony abnormalities, and kinked hair. The risk of cerebral aneurysms also increases and children with Menkes disease have a life expectancy of fewer than four years.
Wilson disease - an autosomal recessive mutation in ATP7B on chromosome 13 causing decreased copper incorporation into apoceruloplasmin and excretion into bile. Serum ceruloplasmin decreases and copper accumulates in the liver (hepatitis, acute liver failure, cirrhosis), brain (dysarthria, dystonia, tremor, parkinsonism, psychiatric diseases), cornea (Kayser-Fleisher rings), kidneys (hemolytic anemia, Fanconi syndrome).
Trichotillomania (hair-pulling disorder) - a psychiatric disorder that presents with repetitive hair pulling resulting in noticeable hair loss. Patients typically present with irregularly-shaped patches of hair loss with broken hairs of different lengths.
submitted by โshak360(20)
Contrasting Menkes disease with Wilson disease and Trichotillomania (hair-pulling disorder)
Menkes disease - a congenital X-linked recessive connective tissue disorder that is caused by a defect in intestinal copper absorption leading to copper deficiency (a defective Menkes protein ATP7A). Low copper levels lead to decreased activity of lysyl oxidase (copper is a necessary cofactor) and defective collagen. This leads to progressive neurologic symptoms, hyperpigmentation of the skin, bony abnormalities, and kinked hair. The risk of cerebral aneurysms also increases and children with Menkes disease have a life expectancy of fewer than four years.
Wilson disease - an autosomal recessive mutation in ATP7B on chromosome 13 causing decreased copper incorporation into apoceruloplasmin and excretion into bile. Serum ceruloplasmin decreases and copper accumulates in the liver (hepatitis, acute liver failure, cirrhosis), brain (dysarthria, dystonia, tremor, parkinsonism, psychiatric diseases), cornea (Kayser-Fleisher rings), kidneys (hemolytic anemia, Fanconi syndrome).
Trichotillomania (hair-pulling disorder) - a psychiatric disorder that presents with repetitive hair pulling resulting in noticeable hair loss. Patients typically present with irregularly-shaped patches of hair loss with broken hairs of different lengths.