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An unusual nail presentation in Marfan's syndrome
Mallikarjuna Nallegowda1, Shiva Lal Yadav, Upinderpal Singh
1Department of Physical Medicine and Rehabilitation, All India Institute of Medical Sciences, New Delhi.
The Journal of Dermatology
|May 7, 2002
Summary
This study reports a rare case of nail pterygium in a boy with Marfan syndrome, a connective tissue disorder. This unique presentation highlights potential, previously undocumented skin and nail manifestations in Marfan syndrome.
Area of Science:
- Dermatology
- Genetics
- Connective Tissue Disorders
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue, typically presenting with skeletal, ocular, and cardiovascular abnormalities.
- Skin and nail lesions are infrequently reported in Marfan syndrome, making such presentations noteworthy.
Observation:
- A 14-year-old male with Marfan syndrome presented with bilateral nail pterygium (webbing) affecting both upper and lower limbs.
- The patient also exhibited chest deformity and other characteristic features of Marfan syndrome.
Findings:
- Histopathological examination of the nail lesions revealed hyperkeratosis and a mild perivascular inflammatory infiltrate.
- The etiology remained unclear, with differential diagnoses including primary congenital lichen planus versus a novel manifestation of Marfan syndrome.
Implications:
- This case may represent the first documented instance of nail pterygium in a patient with Marfan syndrome.
- Further research is warranted to understand the spectrum of dermatological manifestations in Marfan syndrome and their underlying mechanisms.