Journal of Medical Genetics 1989, 26, 382-385

Hypertrichosis cubiti (hairy elbows) and short stature:
a recognisable association
K D MACDERMOT*, M A PATTONt, M J H WILLIAMSt, AND R M WINTER*
From *the Kennedy Galton Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex HAl 3UJ,
tSt George's Hospital Medical School, Cranmer Terrace, London SW17 ORE; and 4:Watford Genera,
Hospital, Vicarage Road, Watford, Herts.

SUMMARY 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 transmissior
of hypertrichosis cubiti alone.

Hypertrichosis cubiti was first reported by Beighton,l
who described a localised hypertrichosis confined to
the extensor surface of the elbow regions in two sibs
from an inbred Amish family. They had normal
development and clinical abnormalities were
confined to short stature and foreshortened, but not
dysplastic, nails. Their parents were short and both
were heterozygous for the Weill-Marchesani
syndrome. The short stature of the affected sibs was
not investigated. Subsequently, Rudolph2 and
Andrev and Stansky3 each reported a sporadic case
of hypertrichosis cubiti without other clinical
abnormalities. Sighting of a case in the local parish A
church congregation was reported by Warner4 and a
few cases were apparently observed, but not
published.3
We have had the opportunity to examine four

previously unreported patients with hypertrichosis
cubiti, all of whom were referred for investigation
of short stature.

Case reports

Two males and two females presented with a history
of excessive hair growth over the lateral aspects of
the lower third of the upper arm and upper third of
the forearm observed soon after birth. In early
childhood the hair became coarser, sometimes

FIG 1 Case 1. Sporadic case of hypertrichosis cubiti
Received for publication 29 October 1988. with the height just below the 3rd centile. Positional
Revised version accepted for publication 12 January 1989. elevation of the shoulders.

382

 o
n
 A

p
ril 5

, 2
0
2

1
 b

y g
u

e
st. P

ro
te

cte
d

 b
y co

p
yrig

h
t.

h
ttp

://jm
g
.b

m
j.co

m
/

J M
e

d
 G

e
n

e
t: first p

u
b

lish
e

d
 a

s 1
0

.1
1

3
6
/jm

g
.2

6
.6

.3
8
2
 o

n
 1

 Ju
n
e
 1

9
8
9
. D

o
w

n
lo

a
d
e
d
 fro

m
 

http://jmg.bmj.com/


Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association

curly, pigmented, and lengthened to 5 to 8 cm. The
underlying skin was normal. They had a normal
amount of body hair and no other areas of hyper-
trichosis. The only adult patient seen reported
abatement of this localised excessive hair growth
around puberty and, when examined, it was no
longer apparent. All patients had normal birth
weight, psychomotor development, and clinical
systems examination. They were in good health and
took no medication.
Case 1 (fig 1) was a 121/2 year old male. His height

was 132 cm (<3rd centile), with growth velocity just
below the 3rd centile for the last three years. Mid
parental height could not be estimated as he was
adopted. However, his foster parents, who also
adopted his brother and sister, reported that his
parents and sibs have normal stature. The skeletal
survey was normal. There was no family history of
hypertrichosis.
Case 2 (figs 2 and 3) was a seven year old male

with a height of 109 cm (3rd centile), compatible
with the predicted height from mid parental value.
The height of his three and a half year old brother
was also on the 3rd centile. The skeletal survey was

FIG 3 Case 3. Hypertrichosis cubiti.

normal. He had an antimongoloid slant of his eyes,
mild hypertelorism, and a short nose with thick alae.
There was no family history of hypertrichosis.

Cases 3 and 4 (fig 4) are mother and daughter,
respectively, with marked shortness of stature.
Neither of them had any sibs. In the pedigree, there
were no other persons with short stature or hyper-
trichosis.

Case 3 was noted to be short at 18 months but the
measurement obtained is not available. At the age

A i t I ! ffiof eight years three months her height was 101 cm
(>3 SD below the mean). On examination she
appeared to have rhizomelic shortening of the
extremities. Skeletal survey showed a number of
minor abnormalities. She had delayed bone age
which was five years nine months at the age of eight
years three months, some shortening of her meta-
carpals, and clinodactyly. Metaphyses were flared
and bone modelling was normal. There was acetabu-
lar dysplasia and the symphysis pubis was a little
wide with short ischia. The capital femoral epiph-
yses were small and the vertebral bodies slightly

FIG 2 Case 2. Antimongoloid slant of the eyes, mild oval. The distal radial epiphyses sloped. The skull
hypertelorism, and foreshortened nose. vault appeared relatively large. She had a round face

383

 o
n
 A

p
ril 5

, 2
0
2

1
 b

y g
u

e
st. P

ro
te

cte
d

 b
y co

p
yrig

h
t.

h
ttp

://jm
g
.b

m
j.co

m
/

J M
e

d
 G

e
n

e
t: first p

u
b

lish
e

d
 a

s 1
0

.1
1

3
6
/jm

g
.2

6
.6

.3
8
2
 o

n
 1

 Ju
n
e
 1

9
8
9
. D

o
w

n
lo

a
d
e
d
 fro

m
 

http://jmg.bmj.com/


K D MacDermot, M A Patton, M J H Williams, and R M Winter

FIG 4 Cases 3 and 4. Mother and daughter with

hypertrichosis cubiti, short stature, rhizomelic shortening
of the extremities, round facies, and a heavy jaw.

with epicanthic folds, mild hypertelorism, a low
nasal root, and a foreshortened nose.
Case 4 was noted to be short in early childhood

and her adult height was 130 cm (>3 SD below the
mean). Rhizomelic limb shortening was apparent.
Skeletal survey showed normal bone modelling and
minor abnormalities confined to the spine. She had
narrow interpedicular distances in the lumbar
region and short pedicles. Mild scoliosis with some
vertebral end palate irregularity was present in the
dorsal region. She had a round face with prominent
jaw.
The following investigations were normal in all

cases: chromosome karyotype, routine haematology
and biochemical profile, total T4, THBI, free T4
index, and TSH. All patients except case 1 (not
measured) had normal TRH and hypoglycaemia
stimulated growth hormone assay.

Discussion

Generalised hypertrichosis is most commonly seen

in certain racial groups and falls within the normal
range of hair distribution. Pathological generalised
hypertrichosis with predilection for certain sites is
associated with hyperactivity of the adrenal cortex
or tumours producing excess steroids or androgens.
Drugs (valproic acid) and metabolic disorders (por-
phyria, mucopolysaccharidosis) produce hypertrich-
osis by an as yet unknown mechanism. Generalised
congenital hypertrichosis lanuginosa results from a
rare autosomal dominant gene. Localised hyper-
trichosis is commonly seen over a naevus or spina
bifida.
The only biopsy report of the hairy site in

hypertrichosis cubiti3 showed no structural abnor-
malities of the hair follicles. The faster than normal
hair growth was reflected by the finding of 90% of
the hair follicles being in the anagen phase, 9% in
the telogen, and 1% in the catagen phase.3 Andreev
and Stransky3 concluded that it probably repre-
sented a naevoid condition of the hair follicles.
Urinary 17-ketosteroids and 17-hydrocortisone,
plasma cortisol, and testosterone were measured in
one case3 and were normal. All patients so far
reported, including our cases, simply improved their
cosmetic appearance by regular cutting of the excess
hair.
The unresolved questions regarding hypertrich-

osis cubiti are its type of genetic transmission and a
possible association with short stature. The four
familial cases have severe shortening of stature,
while the height of the three sporadic cases was
within the normal range and just below the 3rd
centile in the fourth case. The aetiology of short
stature in our cases 3 and 4 is unclear. Hypochon-
droplasia and dyschondrosteosis were considered
and excluded. Round facies, obesity, and short
stature in mother and daughter are suggestive of
Albright's hereditary osteodystrophy but x ray
findings do not support this diagnosis. The two
affected sibs reported by Beighton1 had brachy-
dactyly and proportionate short stature, seen in
Weill-Marchesani syndrome, but the results of a
skeletal survey were not published. It is uncertain if
skeletal changes are comparable in these two
families or coincidental findings.

Genetic heterogeneity in the type of transmission
of hypertrichosis cubiti may exist. Autosomal domi-
nant inheritance is most probable in cases 3 and 4
(mother and daughter). In the two sibs reported by
Beighton1 from the Amish community, autosomal
recessive inheritance is more likely.

We are grateful to Dr S Greene for referring cases
3 and 4 and to Mrs J Bourne for typing this manu-
script.

384

 o
n
 A

p
ril 5

, 2
0
2

1
 b

y g
u

e
st. P

ro
te

cte
d

 b
y co

p
yrig

h
t.

h
ttp

://jm
g
.b

m
j.co

m
/

J M
e

d
 G

e
n

e
t: first p

u
b

lish
e

d
 a

s 1
0

.1
1

3
6
/jm

g
.2

6
.6

.3
8
2
 o

n
 1

 Ju
n
e
 1

9
8
9
. D

o
w

n
lo

a
d
e
d
 fro

m
 

http://jmg.bmj.com/


Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association

References
' Beighton P. Familial hypertrichosis cubiti: hairy elbows syn-
drome. J Med Genet 1970;7:158-60.

2 Rudolph RI. Hairy elbows. Cutis 1985;36:69.
3 Andreev VC, Stransky L. Hairy elbows. Arch Dermatol

1979;115:761.

4 Warner TFCS. Hairy elbows. Arch Dermatol 1980;116:19.

Correspondence to Dr K D MacDermot, Kennedy
Galton Centre, Northwick Park Hospital, Watford
Road, Harrow, Middlesex HAl 3UJ.

385

 o
n
 A

p
ril 5

, 2
0
2

1
 b

y g
u

e
st. P

ro
te

cte
d

 b
y co

p
yrig

h
t.

h
ttp

://jm
g
.b

m
j.co

m
/

J M
e

d
 G

e
n

e
t: first p

u
b

lish
e

d
 a

s 1
0

.1
1

3
6
/jm

g
.2

6
.6

.3
8
2
 o

n
 1

 Ju
n
e
 1

9
8
9
. D

o
w

n
lo

a
d
e
d
 fro

m
 

http://jmg.bmj.com/