Perheentupa syndrome

Perheentupa syndrome, also known as Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) or Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare autoimmune disease characterized by multiple endocrine deficiencies, chronic mucocutaneous candidiasis, and ectodermal dystrophy. It was first described by Finnish physician Jaakko Perheentupa in 1966.

Etiology

Perheentupa syndrome is caused by mutations in the AIRE gene, which is located on chromosome 21. The AIRE gene is responsible for producing a protein that plays a crucial role in the immune system, specifically in the development of immune tolerance.

Clinical Features

The clinical features of Perheentupa syndrome can vary widely among affected individuals. The most common symptoms include chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Other features can include ectodermal dystrophy, which can lead to dental enamel hypoplasia, nail dystrophy, and alopecia; as well as other autoimmune diseases such as type 1 diabetes, hypothyroidism, and vitiligo.

Diagnosis

Diagnosis of Perheentupa syndrome is based on clinical features and confirmed by genetic testing of the AIRE gene. The presence of autoantibodies against specific endocrine organs can also support the diagnosis.

Treatment

Treatment for Perheentupa syndrome is primarily symptomatic and supportive, focusing on managing the various endocrine deficiencies and treating the chronic mucocutaneous candidiasis. Regular follow-up is necessary to monitor for the development of new autoimmune diseases.

Prognosis

The prognosis for individuals with Perheentupa syndrome can vary depending on the severity of the endocrine deficiencies and the individual's response to treatment. With appropriate management, most individuals can lead a normal life.

Epidemiology

Perheentupa syndrome is most common in certain populations, such as the Finnish and Sardinian populations, due to a founder effect. However, it can occur in individuals of any ethnic background.

See Also

• Autoimmune disease
• AIRE gene
• Endocrine system
• Candidiasis
• Ectodermal Dystrophy

NIH genetic and rare disease info

• NIH info on Perheentupa syndrome

Perheentupa syndrome is a rare disease.

Perheentupa syndrome Resources
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