PAPA syndrome


PAPA syndrome

Description, Causes and Risk Factors:

PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne. It is a rare genetic disorder characterised by its effects on skin and joints. PAPA syndrome is inherited in an autosomal dominant fashion, which means that there is a 50% chance that a child will inherit the disease from an affected parent. Recently the responsible gene has been identified on Chromosome 15. The gene responsible for the syndrome, the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene (previously known as the CD2 binding protein 1 (CD2BP1) gene), was cloned in 2002. Only two mutations account for the known cases. Recently, the PSTPIP1 protein has been demonstrated to bind pyrin/marenostrin (P/M), the protein encoded by the MEFV gene, mutations in which cause Familial Mediterranean Fever. PAPA-associated PSTPIP1 mutants exhibit increased binding to P/M.

Risk Factors:

    Reactivity to Propionibacterium (A genus of nonmotile, non-spore-forming, anaerobic to aerotolerant bacteria (family Propionibacteriaceae) containing Gram-positive rods that are usually pleomorphic, diphtheroid, or club shaped, with one end rounded, the other tapered or pointed. Some cells may be coccoid, elongate, bifid, or even branched. The cells usually occur singly, in pairs, in V and Y configurations, short chains, or clumps in “Chinese character” arrangement. The metabolism of these organisms is fermentative, and the products of fermentation include combinations of propionic and acetic acids. These organisms occur in dairy products, on human skin, and in the intestinal tracts of humans and other animals. They may be pathogenic. The type species is Propionibacterium freudenreichii) can change which is cause to PAPA syndrome.

  • Androgens and anabolic steroids also cause to this disease.

  • It may also occur after testosterone therapy stopped.

  • Thyroid medications and dioxins may trigger this disease.

It usually begins with arthritis at a young age, with the skin changes more prominent from the time of puberty.

The arthritis is the predominant feature, noted by its juvenile onset and destructive course. Individuals often recall episodes of arthritis precipitated by a traumatic event. With repeated episodes the joints become damaged with multiple joint replacements required.

Pyoderma gangrenosum is variably expressed, which means that it is not always present in all individuals with the disease. It presents as poorly healing ulcers with undermined edges. Pathergy is an important feature (this term refers to the tendency of ulcers to arise at points of injury). There are reports of lesions developing at the site of a joint replacement wound, central venous line and intravenous drip insertion.

Acne affects most individuals with PAPA syndrome but to a variable degree. It is usually of a severe nodulocystic type which if untreated results in scarring.

Ongoing clinical research suggests that most individuals who suffer from PAPA syndrome inherit it from their parents, even if a person's mother and father have never shown any physical signs of the condition. Researchers believe that high levels of testosterone and androgen contribute to the condition in young men. In addition, many studies have linked anabolic steroid abuse to the development of severe acne. Regardless of the cause, the emergence patterns and physical symptoms of PAPA syndrome in most patients are very similar.

Symptoms:

PAPA syndrome often starts as "normal acne" with comedones and pustules, and progressively degenerates into nodular cystic lesions, this is because of an overproduction of oils from the sebaceous glands. Often, cysts erupt as painful, oozing lesions on the surface of the skin that can cause disfigurement and scarring. Severe skin inflammation, swelling, pain, and sensitivity are the most common physical symptoms of the disorder. A sufferer may experience significant psychological symptoms as well, such as depression, anxiety, and self-consciousness due to prevalent, disfiguring scars.

Diagnosis:

The diagnosis should be suspected in patients presenting with pyogenic arthritis and an autosomal dominant inheritance pattern. Severe cystic acne may be present in patients after puberty.

Step 1: Screening Studies

    C reactive protein / Erythrocyte sedimentation rate (ESR).

  • CRP and ESR may be markedly elevated.

Step 2: Genetic Confirmation

    CD2BP1 (PSTPIP1) gene sequencing.

  • This is the definitive test for establishing a diagnosis of PAPA syndrome. This test is currently commercially available through Gene Dx.

Treatment:

Acne treatment may require oral tetracycline antibiotics or isotretinoin. Treatments directed at tumor necrosis factor (TNF) (infliximab, etanercept) and interleukin-1 (anakinra) have shown a good response in resistant arthritis and pyoderma gangrenosum. Other traditional immunosuppressant treatments for arthritis or pyoderma gangrenosum may also be used.

Etanercept is an emerging treatment for systemic auto-inflammatory syndromes, including PAPA syndrome, and should be considered in cases of illness refractory to more conservative measures.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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