Related Experiment Videos
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association
K D MacDermot1, M A Patton, M J Williams
1Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex.
Insights
Hypertrichosis cubiti, a rare condition, was investigated in four patients with short stature. The study explored its genetic transmission and potential links to skeletal dysplasia, but findings remain inconclusive.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Hypertrichosis cubiti is a rare condition characterized by excessive hair growth on the elbows.
- Its association with short stature and skeletal dysplasia warrants further investigation.
Observation:
- Four patients with hypertrichosis cubiti presented with short stature.
- Two sporadic males and a familial mother-daughter pair were studied.
- Radiological and biochemical investigations yielded non-specific or normal results.
Findings:
- Previous cases include sporadic individuals and siblings with short stature and Weill-Marchesani syndrome.
- The current study could not confirm cosegregation of hypertrichosis cubiti with specific skeletal dysplasia.
- The genetic transmission pattern of hypertrichosis cubiti remains unclear.
Implications:
- Further research is needed to understand the genetic basis of hypertrichosis cubiti.
- Clarifying its inheritance pattern may aid in diagnosing associated conditions.
- This study highlights the complex presentation of hypertrichosis cubiti in clinical practice.
Abstract:
We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the familial cases were non-specific and biochemical investigations were normal. Of the four other published cases, two were sporadic and of normal height. The other two were sibs with short stature and their parents were heterozygous for the Weill-Marchesani syndrome. We were unable to ascertain whether hypertrichosis cubiti cosegregates with the same type of skeletal dysplasia or elucidate the type of genetic transmission of hypertrichosis cubiti alone.