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Hypertrichosis cubiti
D B Flannery1, S M Fink, G Francis
1Department of Pediatrics, Medical College of Georgia, Augusta 30912.
American Journal of Medical Genetics
|April 1, 1989
Summary
Hypertrichosis cubiti, or hairy elbows, is a rare genetic condition. This report details a child with hairy elbows, developmental delay, and facial asymmetry, potentially indicating a new syndrome.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Hypertrichosis is a rare genetic disorder characterized by excessive hair growth.
- It can be generalized or localized, with localized forms typically not associated with other anomalies.
- Hypertrichosis cubiti (hairy elbows) is a rare subtype with only five previous cases reported.
Observation:
- A case of a child with hypertrichosis cubiti is presented.
- The child exhibits developmental delay, facial asymmetry, and delayed speech.
- The patient's parents are unaffected, suggesting a new genetic mutation or variant.
Findings:
- The patient presents with a unique combination of hypertrichosis cubiti and neurodevelopmental issues.
- This presentation differs from previously reported cases of hypertrichosis cubiti, which were mainly associated with short stature.
- The findings suggest a potential severe expression of hairy elbow syndrome or a distinct, previously unrecognized genetic syndrome.
Implications:
- This case expands the phenotypic spectrum of hypertrichosis cubiti.
- It highlights the importance of considering genetic syndromes in children with unusual physical findings and developmental delays.
- Further research, including genetic analysis, is warranted to elucidate the underlying cause and classification of this patient's condition.
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