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Familial eccrine syringofibroadenomatosis with associated ophthalmologic abnormalities
S Chen1, D Palay, S F Templeton
1Department of Dermatology, Emory University School of Medicine, Atlanta, Georgia, USA.
Journal of the American Academy of Dermatology
|August 14, 1998
Summary
This study reports the first known familial occurrence of eccrine syringofibroadenoma (ESFA) in a father and his two sons. The family also presented with shared eyelid and corneal abnormalities, suggesting a genetic link.
Area of Science:
- Dermatology
- Ophthalmology
- Genetics
Background:
- Eccrine syringofibroadenoma (ESFA) is a rare benign skin adnexal tumor.
- ESFA typically occurs sporadically, with only one previous familial case documented.
- The genetic basis and associated conditions of ESFA remain largely unexplored.
Observation:
- A family with multiple, distinct eccrine syringofibroadenoma (ESFA) cases is presented.
- The affected individuals include a father and his two sons.
- All affected family members exhibited similar eyelid abnormalities and progressive corneal scarring.
Findings:
- This report details the first documented instance of hereditary eccrine syringofibroadenoma (ESFA).
- The findings establish a novel association between ESFA and periocular/ocular abnormalities.
- The co-occurrence suggests a potential genetic syndrome linking skin and eye conditions.
Implications:
- This discovery expands the understanding of eccrine syringofibroadenoma (ESFA) etiology.
- It highlights the importance of ophthalmological screening in patients with familial ESFA.
- Further research into the genetic underpinnings of this hereditary condition is warranted.