The topic Tyrosinemia Type II you are seeking is a synonym, or alternative name, or is closely related to the medical condition Richner-Hanhart Syndrome.

Quick Summary:

• Richner-Hanhart Syndrome is a form of hereditary focal palmoplantar keratoderma that is transmitted in an autosomal recessive manner. The condition manifests during early infancy
• Hereditary focal palmoplantar keratoderma is a type of palmoplantar keratoderma (PPK) caused by genetic mutations. PPK is a benign skin condition, wherein there is thickening of skin (keratoderma) of the palms and/or soles. PPK is considered to be a pattern of skin findings and not a condition in itself. The abnormal skin thickening can be focal (localized), widespread (diffused), or punctate type (appearing as tiny bumps)
• Richner-Hanhart Syndrome, also known as Tyrosinemia Type II, is a metabolic disorder occurring due to deficiency in the enzyme tyrosinemia. This results in corneal dystrophy due to eye ulcers and mental retardation, apart from the skin symptoms (palmoplantar keratoderma)
• A diagnosis of Richner-Hanhart Syndrome can be made via skin exams, eye exams, and various other diagnostic tools. A management of the condition primarily involves dietary control (low tyrosine and low phenylalanine) and treating the skin and eye symptoms. The prognosis of Richner-Hanhart Syndrome is generally determined on a case-by-case basis

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