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 ¤  Abstract
 ¤ Introduction
 ¤ Case Report
 ¤ Discussion
 ¤  References
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Table of Contents  
CASE REPORT
Year : 2012  |  Volume : 66  |  Issue : 5  |  Page : 141-143
 

Lymphoedema - distichiasis syndrome with recurrent abortions


Department of Dermatology, Venereology and Leprosy, Bharati Vidyapeeth University Medical College and Hospital, Pune, India

Date of Web Publication28-Jun-2013

Correspondence Address:
Vidyadhar R Sardesai
102, Alliance Nakshatra, 48 Tulshibagwale Colony, Sahakarnagar No. 2, Pune - 411 009
India
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DOI: 10.4103/0019-5359.114202

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 ¤ Abstract 

Lymphoedema-distichiasis syndrome, a type of familial lymphoedema praecox, is a rare, primary lymphoedema of pubertal onset associated with distichiasis and other associations including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts. We report a case of familial lymphoedema with associated distichiasis, atrial septal defect, varicose veins, and recurrent abortions in a 29-year-old female.


Keywords: Atrial septal defect, distichiasis, lymphoedema, recurrent abortions


How to cite this article:
Sardesai VR, Mhatre MA, Patil RM. Lymphoedema - distichiasis syndrome with recurrent abortions. Indian J Med Sci 2012;66:141-3

How to cite this URL:
Sardesai VR, Mhatre MA, Patil RM. Lymphoedema - distichiasis syndrome with recurrent abortions. Indian J Med Sci [serial online] 2012 [cited 2014 Oct 23];66:141-3. Available from: http://www.indianjmedsci.org/text.asp?2012/66/5/141/114202



 ¤ Introduction Top


Lymphoedema-distichiasis syndrome is a rare cause of primary lymphoedema. Lymphoedema praecoxis is a term used for primary lymphoedema appearing after birth but before the age of 35 years, with an increased incidence in females. [1] The edema is usually localized to the legs (80%) and may rarely involve the arms, face, and genitalia. It is commonly associated with distichiasis (94.2%), congenital heart disease (6.8%), varicose veins (49%), ptosis (31%), and cleft palate (4%). Distichiasis is a congenital anomaly characterized by accessory eyelashes along the posterior border of the lid margin. It is an autosomal-dominant condition with mutation in the FOX C2 gene2. [2] This case had lymphoedema, distichiasis, atrial septal defect, varicose veins, and recurrent abortions. There is no report of lymphoedema distichiasis syndrome with recurrent abortions in the literature.


 ¤ Case Report Top


A 29-year-old female was referred to us for chronic swelling of both the lower limbs since 15 years.

Dermatological examination showed lower limb edema, moderate in nature, extending up to the below knee level with thick hyperkeratotic skin and positive Stemmers sign. Edema was asymmetrical with more involvement of left leg. Lower limb also showed varicose veins [Figure 1] and [Figure 2]. On further examination, patient was seen to have distichiasis, which was asymptomatic in nature [Figure 3]. On enquiry, it was revealed that her father and 2 children had similar findings (lower limb swelling since after birth-lymphoedema). Patient gave history of four abortions. Ultrasonography of abdomen and pelvis was normal.
Figure 1: Bilateral lymphoedema with varicose veins

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Figure 2: Asymmetrical lymphoedema with hyperkeratotic skin

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Figure 3: Distichiasis

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On performing 2D ECHO, patient was shown to suffer from a 17 mm atrial septal defect with left to right shunt. Electrocardiogram showed changes of sinus arrhythmia. Cardiac enzyme levels were WNL. Radioactive lymphangiography revealed increased lymph-conducting pathways and dermal backflow, indicating lymph reflux. Hemogram revealed hemoglobin of 9.9 gm% and neutrophilia. All other blood investigations were within normal limits. Patient was referred to ophthalmology where the diagnosis of distichiasis was confirmed. Thus, we hereby reached a diagnosis of lymphoedema-distichiasis syndrome, and patient was advised leg elevation and compression bandages.


 ¤ Discussion Top


Lymphoedema-distichiasis syndrome is a rare autosomal-dominant disorder characterized by puberty onset lymphoedema with dystichiasis. [3] The disorder is commonly misdiagnosed as Meigs syndrome, which is characterized by puberty onset lymphoedema without distichiasis. [3] This syndrome is also associated with congenital heart disease, varicose veins, ptosis, and cleft palate. [3] Lymphoedema-distichiasis was mapped to chromosome 16q24. [4] Lymphoedema is usually bilateral and predominantly asymmetrical. [3] The severity of the edema varies from mild to severe. Mild lymphoedema was defined as swelling confined to the lower leg up to ankle, moderate lymphoedema is up to the knee, while marked lymphoedema was defined as swelling extending into the thigh. [3] Lymphoedema-distichiasis syndrome is differentiated from Meigs syndrome by edema associated with hyperplasia of the lymphatics while the latter shows hypoplasia. This can be differentiated by isotope lymphoscintigraphy and lymphangiography. Lymphoedema-distichiasis syndrome shows high uptake of radioisotope initially while Meigs syndrome shows lack of uptake. [3] Subjects affected with lymphoedema also show venous defect in the form of varicose veins, which can be diagnosed clinically or with Doppler. [5] Distichiasis is an eyelid anomaly characterized by accessory eyelashes from mebomian gland orifice, which are present posterior to the normal cilia. [2] Lymphoedema-distichiasis syndrome with ovarian varicocele and bifid uterus has been reported. [3] Lymphoedema-distichiasis syndrome is associated with congenital heart diseases such as Fallot's tetralogy, ventricular septal defect, atrial septal defect, patent ductus arteriosus. [6] Lymphoedema is not treatable, but it is managed by compression stockings, bandaging, and massage. [3] Distichiasis is managed by electrolysis, cryotherapy, eyelid splitting, and anterior lamellar recession. [2]

Lymphoedema-distichiasis syndrome is said to be a very rare cause of primary lymphoedema and usually goes undiagnosed or misdiagnosed as Meiges syndrome (Familial puberty onset lymphoedema without distichiasis and lack of radioisotope uptake on lymphangiography). Our patient shows rare association of lymphoedema-distichiasis syndrome with recurrent abortions.

 
 ¤ References Top

1.Ryan TJ, Champion RH. Disorders of Lymphatic Vessels. In: Textbook of Dermatology. Champion RH, Burton JL, Ebling FJ, editors. 5 th ed, Vol 3. Oxford: Blackwell Scientific Publications; 1992. p. 2015-25.  Back to cited text no. 1
    
2.Bartley GB, Jackson IT. Distichiasis and cleft palate. Plast Reconstr Surg 1989;84:129-13  Back to cited text no. 2
    
3.Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, et al. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 2002; 39:478-83.  Back to cited text no. 3
[PUBMED]    
4.Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child AH, et al. A gene for lymphedema-distichiasis maps to 16q24.3. Am J Hum Genet 1999; 65:427-32.  Back to cited text no. 4
[PUBMED]    
5.Rosbotham JL, Brice GW, Child AH, Nunan TO, Mortimer PS, Burnand KG. Distichiasis-lymphoedema: Clinical features, venous function and lymphoscintigraphy. Br J Dermatol 2000;142:148-52.  Back to cited text no. 5
[PUBMED]    
6.Goldstein S, Qazi QH, Fitzgerald J, Goldstein J, Friedman AP, Sawyer P. Distichiasis, congenital heart defects and mixed peripheral vascular anomalies. Am J Med Genet 1985;20:283-94.  Back to cited text no. 6
[PUBMED]    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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