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Milroy Disease

Congenital primary lymphedema


Presentation

  • A review of published mutations is presented in this update. Furthermore, the unpublished variants are presented including clinical data.[ncbi.nlm.nih.gov]
  • Abstract An 18-year-old Caucasian boy with Milroy disease involving the right leg presented with erythematous, smooth-topped, waxy papules on the dorsum of his right foot.[ncbi.nlm.nih.gov]
  • CLINICAL PRESENTATION AND INTERVENTION: A 28-year-old woman presented with bilateral pedal edema which she had since birth. A detailed evaluation including blood counts, metabolic panel and imaging studies ruled out secondary causes of lymphedema.[ncbi.nlm.nih.gov]
  • Most affected individuals presented with bilateral congenital lower-limb lymphedema.[ncbi.nlm.nih.gov]
  • Dermal lymphatics were present in biopsies but density was reduced by 51-61% (foot) and 26-33% (forearm). Saphenous venous reflux was present in 9/10 individuals with VEGFR3 mutations, including two carriers.[ncbi.nlm.nih.gov]
Asymptomatic
  • CONCLUSION: This case showed the occurrence of asymptomatic progressive lymphedema in 4 generations of individuals. Copyright 2013 S. Karger AG, Basel.[ncbi.nlm.nih.gov]
  • Conclusion This case showed the occurrence of asymptomatic progressive lymphedema in 4 generations of individuals.[ncbi.nlm.nih.gov]
  • Wide intrafamilial phenotypic variability included two asymptomatic individuals, a case of prenatal hydrothorax evolving to hydrops fetalis, and a late-onset complication, yet unreported, of chronic degenerative joint disease of the knees.[ncbi.nlm.nih.gov]
  • Conclusion: This case showed the occurrence of asymptomatic progressive lymphedema in 4 generations of individuals. 2013 S.[dx.doi.org]
Constitutional Symptom
  • Other than swelling, she did not have any other symptoms such as a history of weight loss or other constitutional symptoms. Her past medical history was unremarkable. She denied tobacco or alcohol use. She did not have known medication allergies.[ncbi.nlm.nih.gov]
Pulmonary Valve Stenosis
  • Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or appear in infancy or childhood.[ncbi.nlm.nih.gov]
Fatigue
  • We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 14, 2019[patientslikeme.com]
Hematochezia
  • Haug Browse recently published Learning/CME Learning/CME View all learning/CME CME Partial Oral versus Intravenous Antibiotic Treatment of Endocarditis Case 4-2019: An 18-Year-Old Man with Abdominal Pain and Hematochezia Bridging the Gap Challenge Yourself[nejm.org]
High Arched Palate
  • The Turner syndrome phenotype includes short stature, stature disproportion, primary amenorrhea, neck webbing, congenital lymphedema of the hands and feet, high-arched palate, short metacarpals, scoliosis, Madelung deformity, hearing difficulties, cardiac[ncbi.nlm.nih.gov]
Xanthoma
  • Histopathologic analysis revealed changes consistent with xanthoma. Both patients were treated with leg compression, curettage, and electrodesiccation.[ncbi.nlm.nih.gov]
  • . * Hemorrhagic verruciform xanthoma is described on the dorsum of the toes.10 * The overlying skin often exhibits a rosy hue. * Patients may have involvement of the external genitalia as a result of associated lymphatic abnormalities, and some may have[checkorphan.org]
  • Hemorrhagic verruciform xanthoma is described on the dorsum of the toes.10 The overlying skin often exhibits a rosy hue.[odlarmed.com]
  • Hemorrhagic verruciform xanthoma is described on the dorsum of the toes. [15] The overlying skin often exhibits a rosy hue.[img.medscape.com]
Hydrops Fetalis
  • Wide intrafamilial phenotypic variability included two asymptomatic individuals, a case of prenatal hydrothorax evolving to hydrops fetalis, and a late-onset complication, yet unreported, of chronic degenerative joint disease of the knees.[ncbi.nlm.nih.gov]
  • Very rarely, the fetus may present with hydrops fetalis. If the mother is affected by Milroy disease there may be an increase in swelling during the pregnancy.[ncbi.nlm.nih.gov]
  • Ultrasonography during pregnancy may detect swelling of the dorsum of the feet, mild pleural effusions which often resolve and (very rarely) more extensive edematous states (hydrops fetalis) in an affected fetus.[ncbi.nlm.nih.gov]
Corneal Irritation
  • About 75% of affected individuals have ocular findings resulting from the aberrant eyelashes including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include early-onset varicose veins (50%), congenital heart disease[ncbi.nlm.nih.gov]
Primary Amenorrhea
  • The Turner syndrome phenotype includes short stature, stature disproportion, primary amenorrhea, neck webbing, congenital lymphedema of the hands and feet, high-arched palate, short metacarpals, scoliosis, Madelung deformity, hearing difficulties, cardiac[ncbi.nlm.nih.gov]
Learning Difficulties
  • Features associated with KIF11 pathogenic variants (and not seen in Milroy disease) include microcephaly, chorioretinopathy, and (in most individuals) learning difficulties.[ncbi.nlm.nih.gov]

Treatment

  • The patient then began sintomatic treatment of the edema, with fitting stockings and descompressive massage. After one month of treatment, the sweeling was reduced ( Figure 2 ).[file.scirp.org]
  • Tomi Tervala, Erkki Suominen and Anne Saaristo, Targeted Treatment for Lymphedema and Lymphatic Metastasis, Annals of the New York Academy of Sciences, 1131, 1, (215), (2008). Hélène Maby-El Hajjami and Tatiana V.[oadoi.org]
  • Prevention of secondary complications: Frequency of cellulitis can be reduced through good skin hygiene, prompt treatment of infections with antibiotics, and prophylactic antibiotics for recurrent episodes.[ncbi.nlm.nih.gov]
  • Treatment includes the use of support stocking and active compression at night. These require medical advice. To reduce complications and scarring, careful hygiene and thorough early treatment of any infection is also important.[netdoctor.co.uk]

Prognosis

  • Prognosis - Nonne-Milroy disease Not supplied. Treatment - Nonne-Milroy disease Not supplied. Resources - Nonne-Milroy disease Not supplied.[checkorphan.org]
  • A third type of hereditary lymphedema, that has an onset after the age of 35 is known as lymph-edema tarda. [9] Prognosis MD does not normally affect life expectancy. [10] See also List of cutaneous conditions References James, William D.; Berger, Timothy[ipfs.io]
  • References Complications Recurrent cellulitis Bacteremia Lymphangiosarcoma Sarcoma Protein-losing enteropathy Chylothorax Chylous ascites References Prognosis Long-term prognosis is excellent.[img.medscape.com]
  • This type of tumor is highly aggressive and has a very poor prognosis. [4] Last updated: 2/2/2015 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]

Etiology

  • In secondary lymphedema, the lymphatic drainage is altered by an acquired blockade of the lymph nodes or by disruption of the local lymphatic channels caused by one of the following etiologies: Recurrent attacks of lymphangitis - A key type of this is[emedicine.medscape.com]
  • We discuss etiology, inheritance pattern, differential diagnosis and follow-up. Downloads month by month Downloads Download data is not yet available.[oadoi.org]

Epidemiology

  • Erythroderma; INTRODUCTION; HISTORY; EPIDEMIOLOGY; PATHOGENESIS; CLINICAL FEATURES; PATHOLOGY; DIFFERENTIAL DIAGNOSIS; TREATMENT; REFERENCES. Chapter 12.[worldcat.org]
  • Thelma, Expansion mutation frequency and CGG/GCC repeat polymorphism inFMR1 andFMR2 genes in an Indian population, Genetic Epidemiology, 20, 1, (129), (2001).[oadoi.org]
  • References Epidemiology Frequency United States The primary lymphedemas occur in 1 of 10,000 individuals. Milroy disease is inherited as an autosomal dominant condition associated with variable penetrance.[img.medscape.com]
  • […] citation needed ] Recent expert opinion is that Whipple's disease should be treated with doxycycline with hydroxychloroquine for 12 to 18 months. [3] Sulfonamides ( sulfadiazine or sulfamethoxazole ) may be added for treatment of neurological symptoms. [3] Epidemiology[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Hypoplasia, dilation, and tortuosity of lymphatic structures characterize primary lymphedema. Failure of adequate clearance of lymphatic fluid leads to accumulation of protein in the extracellular fluid.[odlarmed.com]
  • Of a family of individuals with congenital lymphedema (Milroy disease), a similar observation was made by Michelini et al. [ 2 ], where genetic testing revealed a wide spectrum of involved genes in pathophysiology (unlike our case where genetic testing[ncbi.nlm.nih.gov]
  • Cutaneous Neurophysiology; INTRODUCTION; PATHOPHYSIOLOGY. MEDIATORS OF PRURITUSDRUG TREATMENT OF PRURITUS; FUTURE DIRECTIONS; REFERENCES; Chapter 7.[worldcat.org]

Prevention

  • She was advised to wear compression stockings and to avoid scratches or skin breakdowns in the lower extremities to prevent cellulitis.[ncbi.nlm.nih.gov]
  • Management is typically conservative and usually successful in most people. [2] The goal of treatment is to reduce swelling and prevent complications. Management of lymphedema should be guided by a lymphedema therapist.[rarediseases.info.nih.gov]
  • Monthly penicillin G benzathine injections may be required to prevent recurrent cellulitis. References Cefazolin (Ancef) Dosing, Interactions, etc.[img.medscape.com]
  • Treat- ment is aimed at reducing swelling and preventing infection.[file.scirp.org]
  • Treatments The primary goal of treatment is to control the complications of the swollen limbs and to prevent infection.[brighthub.com]

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