User Tools

Site Tools



lymphedema_ptosis

Lymphedema ptosis

Discussion

Though incredibly rare, one of the most “known of” lymphedema conditions is lymphedema ptosis. This particular syndrome is easily recognizable by the “droopy” eyelids.

The entity was briefly reported by Falls and Kertesz in 1964 in a father and son. The association of ptosis with lymphedema was documented by Bloom in 1941 in a 5 generation family.

What is Ptosis?

Ptosis (pronounced TOE-sis) is the medical term for drooping eyelids. A person with ptosis is not able to lift one or both upper eyelids to uncover the eye completely.

Many people want to correct ptosis because it damages their appearance. In most cases, the sagging upper eyelid results in a loss of the superior (upper) field of vision. In severe cases, ptosis may be present at birth and, if left untreated, can permanently damage vision by forcing the unaffected eye to do all the work while letting the affected eye degenerate.

Congenital Ptosis

Congenital ptosis is the common form of eyelid ptosis present since childbirth. It may involve one or both upper eyelids and vary in severity from mild to severe. This form of eyelid ptosis is often the result of lack of development of the levator muscle. Treatment is primarily surgical where the affected eyelid muscles are shortened / resected for eyelid elevation. The surgery may also use other methods to repair the ptosis, such as a technique called fascia suspension, Frontalis sling operation .

Treatment

Treatment would be a double focused concept. The three most common surgeries used are Levator resection, Müller muscle resection and

First, for congenital ptosis, the treatment is surgery. As noted above, the procedure involves either shortening the levator muscle or attaching it to the muscles of the brow.

Second, there would be a treatment program initiated for the lymphedema. This would consist of manual decongestive therapy, compression bandages, and the use of compression garments.

Many people confuse ptosis with lymphedema distichiasis, however clinically they are two recognized as two distinct syndromes. Ptosis can however occur with that syndrome and can also complicate Noonan”s syndrome.

Pat O'Connor

June 5, 2008

Lymphedema and Ptosis

OMIM #153000

Gene map locus 16q24.3 TEXT A number sign (#) is used with this entry because lymphedema and ptosis, included in the classification of dominantly inherited lymphedema (see 153200), can be caused by mutation in the forkhead family transcription factor gene MFH1 (FOXC2; 602402).

CLINICAL FEATURES

In a family reported by Bloom (1941), lymphedema of the legs occurred in 5 generations; six affected persons in 3 consecutive generations also had ptosis. Falls and Kertesz (1964) made brief reference to a family in which the male proband had ptosis and lymphedema and the father ptosis. Ptosis and lymphedema occur in the Noonan syndrome (163950). See also lymphedema with distichiasis (153400).

MOLECULAR GENETICS

Finegold et al. (2001) found a single base deletion (602402.0008) in the FOXC2 gene in a family with lymphedema and ptosis.

REFERENCES

1. Bloom, D.: Hereditary lymphedema (Nonne-Milroy-Meige). Report of a family with hereditary lymphedema associated with ptosis of the eyelids in several generations. New York J. Med. 41: 856-863, 1941.

2. Falls, H. F.; Kertesz, E. D.: A new syndrome combining pterygium colli with developmental anomalies of the eyelids and lymphatics of the lower extremities. Trans. Am. Ophthal. Soc. 62: 248-275, 1964. PubMed ID : 14269895

3. Finegold, D. N.; Kimak, M. A.; Lawrence, E. C.; Levinson, K. L.; Cherniske, E. M.; Pober, B. R.; Dunlap, J. W.; Ferrell, R. E.: Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum. Molec. Genet. 10: 1185-1189, 2001. PubMed ID : 11371511

Codes and external Resources

ICD-10

H02.4 Ptosis of eyelid Congenital ptosis Q10

ICD-9-CM Diagnosis 374.3 (2008)

Ptosis of eyelid

Drooping of the upper eyelid. Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle. 374.3 is a non-specific code that cannot be used to specify a diagnosis View the ICD-9-CM Volume 1 374.* hierarchy

ICD-9 Elephantiasis of eyelid (used only if there is edema of the eyelids)

374.83 is a specific code that can be used to specify a diagnosis 374.83 contains 1 index entry

ICD-9-CM Diagnosis 757.0 (2008)

Hereditary edema of legs 757.0 is a specific code that can be used to specify a diagnosis 757.0 contains 23 index entries

757.0 also known as: Congenital lymphedema Hereditary trophedema Milroy's disease

OMIM #153000

MeSH D001763 Ptosis

EMedicine (Ptosis) oph/201

oph/345

DiseaseDB 25466

FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient

Lymphedema ptosis

Lymphedema ptosis, Orphan Net

Resources for Lymphedema Ptosis, NCBI

Lymphedema People Internal Links

Lymphedema People Resources

lymphedema_ptosis.txt · Last modified: 2012/10/16 14:40 (external edit)