rheumatoid polyarthritis
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Unknown etiology
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rheumatoid arthritis
6 October 2003 -
Cumming syndrome
8 March 2005Cumming type campomelia; cervical lymphocele with bowed long bones; campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia. association
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infantile myofibromatosis
9 February 2006Definition: Infantile myofibromatosisis is defined by the presence of multiple infantile myofibromas. Infantile myofibromatosis is a term coined by Chung and Enzinger.
It exclusively affects infants and young children, with 60% of cases noted at birth or shortly thereafter and more than 80% occurring before the age of 2 years.
Infantile myofibromatosis is one of the most commonly occurring tumors of the neonatal period, presenting in both solitary and multicentric forms.
Most solitary (...) -
balanitis xerotica obliterans
26 October 2007Balanitis xerotica obliterans (BXO)
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Behcet disease
31 October 2005Behcet syndrome
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syndromic diarrhea
10 March 2010phenotypic diarrhea; Syndromic diarrhea - Phenotypic diarrhea - Tricho-hepato-enteric syndrome - Intractable diarrhea of infancy with facial dysmorphism - Trichorrhexis nodosa and cirrhosis - Neonatal hemochromatosis phenotype with intractable diarrhea and hair abnormalities - Intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency.
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myopathic CIPO
26 November 2009myopathic chronic intestinal pseudoobstruction
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adult diffuse nesidioblastosis
16 May 2008Persistent hyperinsulinemic hypoglycemia (PHH) in adults that is not caused by an insulinoma is a rare and not well-characterized disease that has been named nesidioblastosis.
Diffuse nesidioblastosis in adult patients with PHH resembles that seen in neonates suffering from PHH. The most important criterion for the diagnosis is the beta-cell hypertrophy.
As approximately 4% of adult patients with PHH are affected by diffuse nesidioblastosis, this disease is not as rare as it has been (...) -
Sjögren disease
24 March 2010primary Sjögren’s syndrome; Goujerot-Sjögren disease; Sjögren syndrome
Sjogren’s syndrome causes keratoconjunctivitis sicca and xerostomia. It can also cause other exocrine abnormalities such as vaginal dryness, bronchitis, and affect other organs.
Anti-SS-A (Ro) and anti-SS-B (La) antibodies
Anti-SS-A(Ro) antibodies are found in many autoimmune disorders, such as SLE, subacute cutaneous lupus, neonatal lupus, ANA negative lupus, Sjogren’s syndrome, primary biliary cirrhosis, chronic active (...) -
pyoderma gangrenosum
11 February 2004Definition: Pyoderma gangrenosum (PG) is an uncommon, chronic ulcerative condition of the skin that was first described in 1930. It can occur in any age group, but only 4% of the patients are infants or children. An underlying systemic disease is present in approximately 50% of the patients with PG.
The most common associations include inflammatory bowel disease, arthritis, lymphoproliferative disorders and chronic recurrent multifocal osteomyelitis (CRMO).
Pyoderma gangrenosum (PG) is a (...)
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