An important feature of lymphedema-distichiasis syndrome is that distichiasis is typically present prior to the onset of lymphedema. [ncbi.nlm.nih.gov]

ORPHA:33001 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant Age of onset: All ages ICD-10: Q82.0 OMIM: 153400 UMLS: C0265345 MeSH: C537710 GARD: 333 MedDRA: - The documents contained in this web site are presented for information purposes [orpha.net]

A 54-year-old man presented to the emergency department with bilateral swelling in his legs that was progressive, long-standing and had started when the patient was in his midthirties. [cmaj.ca]

• Lymphedema

  Mutations in the FOXC2 gene are associated with lymphedema-distichiasis syndrome. An important feature of lymphedema-distichiasis syndrome is that distichiasis is typically present prior to the onset of lymphedema. [ncbi.nlm.nih.gov]

  Homepage Rare diseases Search Search for a rare disease Lymphedema-distichiasis syndrome Disease definition Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth [orpha.net]

• Swelling

  Those parasites can clog the system, causing swelling. He referred the patient to Dr. Todd D. [nytimes.com]

  People with lymphedema-distichiasis syndrome develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. [malacards.org]

  Treatment is aimed at reducing swelling and preventing infection. [medigoo.com]

  Episodes of cellulitis can cause further swelling in the lower limbs. [ Read More ] [icdlist.com]

  People with this condition develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. [jemds.com]

• Asymptomatic

  The mutation was present in all nine affected individuals and in an asymptomatic 9-year-old boy. CONCLUSIONS: Distichiasis-lymphedema syndrome results from mutations in FOXC2, a member of the forkhead/winged family of transcription factors. [ncbi.nlm.nih.gov]

  Publication Analysis Top Keywords lymphedema-distichiasis syndrome 8 individuals asymptomatic 4 [pubfacts.com]

  We performed molecular analysis of the FOXC2 gene in the 12 symptomatic cases and in 18 asymptomatic family members. Only the 12 symptomatic individuals carried the mutation. [nature.com]

  Distichiasis is usually present at birth and can cause corneal irritation or recurrent conjunctivitis 5 in up to 75% of patients; however, it was asymptomatic in this patient. [cmaj.ca]

  Two females, aged 23 and 24, showed normal uptake at both 30 and 60 minutes and no clinical evidence of lymphoedema; however both were found to have asymptomatic distichiasis. [jmg.bmj.com]

• Trisomy 21

  Primary lymphoedema Due to an inherent defect in the lymphatic vessels or lymph nodes. hereditary lymphoedema and hereditary associated conditions 6 chromosomal aneuploidy Klinefelter syndrome : most commonly Turner syndrome trisomy 21 (Down syndrome) [radiopaedia.org]

  21, or Down’s syndrome. [express.co.uk]

  21 Trisomy 13 Trisomy 18 Distichiasis lymphedema syndrome [42, 43] The last item above, distichiasis lymphedema syndrome, is a rare inherited disorder characterized by the presence of extra eyelashes (distichiasis) and swelling of the arms and legs [emedicine.medscape.com]

• Nail Abnormality

  Infections Nail yellowing is abnormal and may be attributable to something other than YNS. Nail infection or mycosis should be ruled out before considering YNS. Candida-, Aspergillus- or dermatophyte-caused nail mycosis may cause such discoloration. [ojrd.biomedcentral.com]

• Hypertension

  BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-213651 DESCRIPTION A 29-year-old woman with a history of renal cysts, hypertension and lymphoedema-distichiasis syndrome, was referred to ophthalmology, with bilateral [semanticscholar.org]

  (primary deep venous dysplasia and venous hypertension ( Figure 10, Figure 11 ), 30 F.P. [phlebolymphology.org]

  Ocular History: Blepharitis, ocular hypertension, and allergic conjunctivitis. No history of ocular trauma or infection. Medical History: Non-insulin dependent diabetes mellitus, hyperlipidemia, and hypertension. [webeye.ophth.uiowa.edu]

  Delivery Models Health Care Economics, Insurance, Payment Health Care Policy Health Care Quality Health Care Reform Health Care Safety Health Care Workforce Health Disparities Health Informatics Health Policy Hematology History of Medicine Humanities Hypertension [jamanetwork.com]

  […] associated with extra cutaneous features. 2) Clinically indistinguishable from Meige type and may involve hypoplasia of lymphatics due to recurrent lymphangitis with /without recurrent cellulitis. 3) Associated with cerebral AV malformations and pulmonary hypertension [jemds.com]

• Blurred Vision

  Other eye problems such as an irregular curvature of the cornea causing blurred vision ( astigmatism ) or scarring of the cornea may also occur. [rarediseases.info.nih.gov]

  vision, hyperaemia and ocular pain, developed over months. [semanticscholar.org]

  Related eye problems can include an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea. [malacards.org]

  Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. [diseaseinfosearch.org]

• Blepharoptosis

  Both I-1 and II-1 had blepharoptosis, and II-2 had epicanthus. (C) Details of eyes with distichiasis. Note the double row of eyelashes originating from the inner margin of the eyelids, as indicated by the black arrows (II-2). [ijbs.com]

• Skin Disease

  NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Acrodermatitis (Medical Encyclopedia) Cryotherapy (Medical Encyclopedia) Cutaneous skin tags (Medical Encyclopedia) Dry skin -- self-care (Medical Encyclopedia) Erythema multiforme [icdlist.com]

  Pasteurella multocida septicaemia in Milroy's disease. J Infect. 1995 Sep. 31(2):175-6. [QxMD MEDLINE Link]. Lambert PC, Micali G, Schwartz RA. Lymphedema. Lebwohl M, ed. Treatment of Skin Disease: Comprehensive Therapeutic Strategies. 5th ed. [emedicine.medscape.com]

Lymphedema: Diagnostic workup and management. J Am Acad Dermatol. 2017; 77(6): 995-1006. [ Links ] 3. Basta MN, Gao LL, Wu LC. [scielo.org.co]

See Workup for more detail. Management The goal of lymphedema therapy is to restore function, reduce physical and psychologic suffering, and prevent the development of infection. [emedicine.medscape.com]

"Lymphedema: Diagnostic workup and management". Journal of the American Academy of Dermatology. 77 (6): 995–1006. doi:10.1016/j.jaad.2017.03.021. PMID 29132859. ^ Sleigh BC, Manna B (January 2020). "Lymphedema". StatPearls [Internet]. [en.wikipedia.org]

The pathogenesis is still unknown and newer treatments are being researched. Rarely, it can be associated with other disorders. [ncbi.nlm.nih.gov]

Treatment: Treatment is symptomatic and supportive. The treatment of lymphedema-distichiasis syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment is aimed at reducing swelling and preventing infection. [medigoo.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Prognosis Prognosis is good if prompt treatment is initiated before permanent damage to the cornea. Recurrence of distichiatic cilia after surgical intervention may still take place. [aimu.us]

[…] de novo (new) mutation or deletions of the ZEB2 (also known as ZFHX1B or SMADIP1) gene on chromosome 2q22. [ 3 ] However, some of those affected by the disease do not have abnormalities of this gene that are currently detectable. [ citation needed ] Prognosis [en.academic.ru]

Treatment of extradural SAC is complete resection with an excellent prognosis, regardless of the degree of the size of the cyst [ 1, 2, 4 ]. [omicsonline.org]

(See Pathophysiology, Prognosis, Treatment, and Medication.) Lymphedema is classified into primary and secondary forms. [emedicine.medscape.com]

(See Etiology, Pathophysiology, and Presentation.) [emedicine.medscape.com]

: The etiology of hypoproteinemia in a patient with congenital chylous ascites. Pediatrics 30: 696-706, 1962. 8. Hurwitz, P. A.; Pinals, D. [fetalultrasound.com]

Etiology of non-immune hydrops fetalis: an update. Am J Med Genet A. 2015;167A:1082–8. [PubMed: 25712632] Brice G. Diagnostic difficulties in lympedema distichiasis. Pediatr Dermatol. 2003;20:89. [ncbi.nlm.nih.gov]

YNS etiology remains unknown but a role of lymphatic impairment is usually evoked. [ojrd.biomedcentral.com]

The etiology may be congenital or traumatic. Despite the development of magnetic resonance in recent years, its findings are generally accidental. The most common symptoms are pain and progressive paraparesis, asymmetrical. [omicsonline.org]

Diagnosis: Distichiasis EPIDEMIOLOGY Rare Mostly congenital, can be aquired Autosomal dominant (associated with Lymphedema-Distichiasis syndrome - FOX-C2 gene, 16q24.3) SIGNS Extra row of eyelashes Corneal epithelial abrasion, punctate erosions, or other [webeye.ophth.uiowa.edu]

"The patient record in epidemiology". Scientific American. 245 (4): 54–63. Bibcode:1981SciAm.245d..54K. doi:10.1038/scientificamerican1081-54. [en.wikipedia.org]

Epidemiology of elephantiasis with special emphasis on podoconiosis in Ethiopia: A literature review. J Vector Borne Dis. 2015 Jun. 52 (2):111-5. [QxMD MEDLINE Link]. Elgendy IY, Lo MC. [emedicine.medscape.com]

[…] pulmonary manifestations, n (%) 23 (56) 7 (64) 15 (71) 61 (63) 17 (100) 24 (39) (PEs only) Lymphedema, n (%) 26 (63) 6 (55) 6 (29) 78 (80) 13 (76) 45 (72) Sinusitis, n (%) 17 (41) 3 (27) 3 (14) NR 14 (83) 11 (18) Complete triad ~60% 27% 29% NR 76% 27% Epidemiology [ojrd.biomedcentral.com]

The results reveal a pathophysiological mechanism contributing to swelling in LDS. Place, publisher, year, edition, pages 2011. [uu.diva-portal.org]

The pathophysiology involves insufficient development of lymphatic vessels. - Distal subcutaneous edema of the extremities, most frequently of the lower limbs, but the hands can also be involved. - Findings can be present in one extremity or in all of [fetalultrasound.com]

Lymphedema: Pathophysiology and clinical manifestations. J Am Acad Dermatol. 2017; 77(6): 1009-20. [ Links ] 11. Cadena E, Sanabria A. Disección ganglionar de cuello: conceptos actuales. Rev. colomb. cancerol. 2011; 15(3): 145-54. [ Links ] 12. [scielo.org.co]

(See Etiology, Pathophysiology, and Presentation.) [emedicine.medscape.com]

As a multifaceted disease in its etiology and pathophysiology, the treatment and control also present a corresponding richness. [italf.org]

At a clinical level, it reinforces the importance of genetic testing in subjects with familial lymphedema or distichiasis, since measures can be taken at an early stage to prevent complications and to reduce the progression of lymphedema or delay its [ncbi.nlm.nih.gov]

Prevention of secondary complications: To prevent secondary cellulitis treat athlete’s foot and other infections promptly; treat early cellulitis with antibiotics. Other: Diuretics are not effective in the treatment of lymphedema. [staylymphiestrong.com]

Treatment is aimed at reducing swelling and preventing infection. [medigoo.com]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]