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Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome

FILS


Presentation

  • ) American Association of Geriatric Psychiatry (Member, 2006 - Present) Florida Psychiatric Society (Member, 2006 - Present) American Psychiatric Association (2004, 2004 - Present) Recent Publications Rinehardt E, Eichstaedt K, Schinka JA, Loewenstein[health.usf.edu]
  • Acronym FILS Synonyms FILS syndrome Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Richard Stiehm, professor of paediatrics in the division of allergy, immunology and rheumatology at Mattel Children's Hospital at the University of California at Los Angeles (UCLA), was presented with the 2007 Abbott Laboratories Award.[books.google.de]
  • We present a comprehensive review of skeletal and joint manifestations in PIDs according to the most recent classifications.[symbiosisonlinepublishing.com]
  • Knowing if a pathogenic variant is present in POLE is advantageous. At-risk relatives can be identified, enabling pursuit of a diagnostic evaluation.[invitae.com]
Short Stature
  • Growth impairment is observed during early childhood and results in variable short stature in adulthood.[malacards.org]
  • TY - JOUR T1 - Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").[unboundmedicine.com]
  • Symptoms related to Facial dysmorphism, immunodeficiency, livedo, and short stature include: Head abnormality Broad forehead Cardiovascular system abnormality Telangiectases of the cheeks Immune system symptoms Bone pain Respiratory system abnormality[familydiagnosis.com]
  • , mainly malar\nhypoplasia, livedo on the skin since birth, immunodeficiency resulting\nin recurrent infections, and short stature (summary by Pachlopnik Schmid\net al., 2012).'[lifemodules.org]
Short Stature
  • Growth impairment is observed during early childhood and results in variable short stature in adulthood.[malacards.org]
  • TY - JOUR T1 - Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").[unboundmedicine.com]
  • Symptoms related to Facial dysmorphism, immunodeficiency, livedo, and short stature include: Head abnormality Broad forehead Cardiovascular system abnormality Telangiectases of the cheeks Immune system symptoms Bone pain Respiratory system abnormality[familydiagnosis.com]
  • , mainly malar\nhypoplasia, livedo on the skin since birth, immunodeficiency resulting\nin recurrent infections, and short stature (summary by Pachlopnik Schmid\net al., 2012).'[lifemodules.org]
Pain
  • Affiliated tissues include skin, bone and t cells, and related phenotypes are bone pain and malar flattening OMIM : 58 FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency[malacards.org]
  • Symptoms related to Facial dysmorphism, immunodeficiency, livedo, and short stature include: Head abnormality Broad forehead Cardiovascular system abnormality Telangiectases of the cheeks Immune system symptoms Bone pain Respiratory system abnormality[familydiagnosis.com]
  • The often painful disease can cause joint deformity and be life-threatening if the respiratory tract, heart valves, or blood vessels are affected.[howlingpixel.com]
  • "Case 5-2009 — A 47-Year-Old Woman with a Rash and Numbness and Pain in the Legs". New England Journal of Medicine. 360 (7): 711–20. doi : 10.1056/NEJMcpc0807822. PMID 19213685. Sneddon, I. B. (April 1965).[ipfs.io]
  • "Case 5-2009 — A 47-Year-Old Woman with a Rash and Numbness and Pain in the Legs". New England Journal of Medicine 360 (7): 711–20. Sneddon, I. B. (April 1965). "Cerebro-Vascular Lesions And Livedo Reticularis".[worldlibrary.org]
Recurrent Infection
  • UniProtKB/Swiss-Prot : 76 Facial dysmorphism, immunodeficiency, livedo, and short stature: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections[malacards.org]
  • Definition A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections.[uniprot.org]
  • infections, and short stature (summary by Pachlopnik Schmid\net al., 2012).'[lifemodules.org]
  • infection due to specific granule deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Reticular dysgenesis Roifman syndrome Say-Barber-Miller syndrome Schimke immuno-osseous dysplasia Secondary hemophagocytic lymphohistiocytosis[se-atlas.de]
  • infection due to specific granule deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Reticular dysgenesis Roifman syndrome Say-Barber-Miller syndrome Schimke immuno-osseous dysplasia Selective IgM deficiency Severe[se-atlas.de]
Flushing
  • MalaCards based summary : Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature, also known as fils syndrome, is related to sneddon syndrome and livedoid vasculitis, and has symptoms including pruritus, flushing and icterus.[malacards.org]
  • Stature OMIM:305550 Fingerprint Body Myopathy OMIM:136120 Fish-Eye Disease; FED OMIM:228980 Fleck Retina, Familial Benign; FRFB OMIM:228990 Fleck Retina of Kandori OMIM:136140 Floating-Harbor Syndrome; FLHS OMIM:136150 Flood Factor Deficiency OMIM:136200 Flushing[informatics.jax.org]
  • External links DermNet Symptoms and signs : skin and subcutaneous tissue ( R20–R23 , 782 ) Disturbances of skin sensation Hypoesthesia Paresthesia Formication Hyperesthesia Hypoalgesia Hyperalgesia Circulation Cyanosis Pallor / Livedo Livedo reticularis Flushing[worldlibrary.org]
Pruritus
  • MalaCards based summary : Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature, also known as fils syndrome, is related to sneddon syndrome and livedoid vasculitis, and has symptoms including pruritus, flushing and icterus.[malacards.org]
  • […] herpetiformis Inflammatory Dermatitis and eczema Atopic dermatitis · Seborrhoeic dermatitis ( Dandruff, Cradle cap ) · Contact dermatitis ( Diaper rash, Urushiol-induced contact dermatitis ) · Erythroderma · Lichen simplex chronicus / Prurigo nodularis · Itch ( Pruritus[wikidoc.org]
Skin Ulcer
  • ulcer ( Pyoderma gangrenosum, Bedsore ) Cutaneous Markers of Internal Malignancy ( Florid cutaneous papillomatosis, acanthosis nigricans, sign of Leser-Trelat ) atrophic ( Lichen sclerosus, Acrodermatitis chronica atrophicans ) necrobiosis ( Granuloma[wikidoc.org]
Bone Pain
  • Affiliated tissues include skin, bone and t cells, and related phenotypes are bone pain and malar flattening OMIM : 58 FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency[malacards.org]
  • Symptoms related to Facial dysmorphism, immunodeficiency, livedo, and short stature include: Head abnormality Broad forehead Cardiovascular system abnormality Telangiectases of the cheeks Immune system symptoms Bone pain Respiratory system abnormality[familydiagnosis.com]
Skeletal Dysplasia
  • dysplasia with severe combined immunodeficiency Shwachman-Diamond syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Spondyloenchondrodysplasia Sterile multifocal osteomyelitis with periostitis[se-atlas.de]
Cognitive Disorder
  • Dementia and geriatric cognitive disorders . 38(1-2) : 1-9, 2014. Umoren IE, Fils JM, Stewart JT. Frontotemporal dementia-a chameleon? The Primary Care Companion to CNS Disorders . 13(2) , 2011. Fils JM, Stewart JT.[health.usf.edu]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • "Interferons beta have vasoconstrictive and procoagulant effects: a woman who developed livedo reticularis and Raynaud phenomenon in association with interferon beta treatment for multiple sclerosis".[worldlibrary.org]
  • Treatment may involve symptomatic treatment with painkillers or anti-inflammatory medications, and more severe cases may require suppression of the immune system.[howlingpixel.com]
  • The NCCN Guidelines are a statement of consensus of its authors regarding their views of currently accepted approaches to treatment.[invitae.com]
  • The Foundation for AIDS Research. treatment and prevention plus a history of the acquired immunodeficiency additional in depth A discussion on textual integrity medical information a history of the acquired immunodeficiency The epidemic of the immunodeficiency[72hourstokeywest.com]

Prognosis

  • The presence of calciphylaxis generally predicts a poor prognosis with a typical life expectancy of less than one year.[howlingpixel.com]

Etiology

  • […] vasculopathy [36] Gefitinib [37] Buerger's disease (as an initial symptom) [38] As a rare manifestation of Graves hyperthyroidism [39] Associated with pernicious anaemia [40] Moyamoya disease (a rare, chronic cerebrovascular occlusive disease of unknown etiology[infogalactic.com]
  • This review highlights the different manifestations, including infectious as well as noninfectious etiologies that may occur in the skeletal system of patients with primary Immunodeficiencies.[symbiosisonlinepublishing.com]
  • […] renal cell carcinoma (rare) [37] Buerger's disease (as an initial symptom) [38] As a rare manifestation of Graves hyperthyroidism [39] Associated with pernicious anaemia [40] Moyamoya disease (a rare, chronic cerebrovascular occlusive disease of unknown etiology[ipfs.io]

Epidemiology

  • Registry data has been used in epidemiological studies to gauge PID prevalence: 5.38/100,000 in France, 5.6/100,000 in Australia, USA 86.3/100,000 inhabitants [8].[symbiosisonlinepublishing.com]
Sex distribution
Age distribution

Pathophysiology

  • In addition to the main pathophysiologic finding of fibro-osseous bone formation, craniosynostosis has been reported in Cherubism syndrome, where a mutation in SH3BP2 causes bone degeneration in the jaws [137].[symbiosisonlinepublishing.com]

Prevention

  • The Foundation for AIDS Research. treatment and prevention plus a history of the acquired immunodeficiency additional in depth A discussion on textual integrity medical information a history of the acquired immunodeficiency The epidemic of the immunodeficiency[72hourstokeywest.com]
  • The F279S mutation of PHF8, found in 2 Finnish brothers with mild intellectual disability, facial dysmorphism and cleft lip / palate, was found to additionally prevent nuclear localisation of PHF8 overexpressed in human cells. "' Young Simpson syndrome[eng.ichacha.net]
  • If there is a pathogenic variant in this gene that prevents it from functioning normally, the risk of developing certain types of cancers is increased.[invitae.com]
  • Keeps DNA polymerase tightly associated with parent increasing its processivity. prevents supercoiling of the DNA at the fork.[brainscape.com]
  • Centers for Disease Control and Prevention (CDC) 100% of seasonal H3N2 and 2009 pandemic flu samples tested showed resistance to adamantanes, and amantadine is no longer recommended for treatment of influenza in the United States.[howlingpixel.com]

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