Indian Journal of Plastic Surgery Medknow Publications on behalf of Indian Journal of Plastic Surgery ISSN: 0970-0358 EISSN: 1998-376x Vol. 36, Num. 2, 2003, pp. 139-140

Indian Journal of Plastic Surgery, Vol. 36, No. 2, Dec, 2003, pp. 139-140

Letter To Editor

Unilateral blue sclera: A diagnostic enigma?

Makwana N, Jagannathan M

Department of Plastic Surgery, LTMG Hospital, Sion, Mumbai
Correspondence Address:Department of Plastic Surgery, LTMG Hospital, Sion, Mumbai ltmg_plastsurg@hotmail.com

Code Number: pl03032

Sir,

We had occasion to see a 5-year-old girl, who had this extraordinary appearance of her right eye [Figure - 1]. She was a relative of one of our patients, and was asymptomatic. We were amazed by this appearance of her eye, (which was present since birth), and were prompted to review the available literature. The differential diagnosis offered in literature is:

1. Marfan′s syndrome.
2. Ehler Danlos syndrome.
3. Hallerman Strieff syndrome.
4. Incontinenta pigmenti.
5. Iron deficiency anemia.
6. Associated with myasthenia gravis.
7. Blue sclera syndrome (Van der Heave syndrome)
8. Osteogenesis imperfecta.

However in all these conditions, there are associated abnormalities of the musculoskeletal system, or connective tissue, none of which was present here. In addition, in all these cases, the sclera is presumably bilaterally involved. Wiernik[1] has cited a familial incidence in 6 out of 24 members of a family in Japan. He also suggests a relation between myasthenia gravis, and osteogenesis imperfecta. Smith[2] has reported an isolated cellular blue naevus of sclera, along with retinal detachment. However, there was an island of tissue involved and not the entire sclera.

The puzzle continues.

REFERENCES

Copyright 2003 - Indian Journal of Plastic Surgery

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