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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

This summary is machine-generated.

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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.

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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.