This case report describes a family found to have Heimler's syndrome based on the clinical findings presented. Heimler's syndrome is characterized by sensorineural hearing loss, amelogenesis imperfecta of the teeth, and nail abnormalities. The report describes a father and his two children who presented with these characteristics. This family represents the fifth reported case of Heimler's syndrome in world literature and the first reported case from India. The report reviews the features and previous case reports of Heimler's syndrome.

1. A FAMILY WITH HEIMLER’S
SYNDROME – 5TH CASE
REPORT IN WORLD
LITERATURE!
Dr Anjana. A. Mohite
ASSOCIATE PROF. IN ENT
DY PATIL MEDICAL COLLEGE
KOLHAPUR ,MAHARASHTRA
INDIA

2. Hearing loss due to genetic causes
has a reported prevalence of 1 in 1000
births.
Among these 15- 30% are associated
with other abnormalities , although a
small number are associated with oro-
dental disorders.

3. I present a pair of siblings along with
their father and grandfather who
exhibited findings similar to those
described in Heimler’s syndrome
namely:
*Sensorineural hearing loss.
*Amelogenesis imperfecta.
*Nail abnormalities.

4. To my knowledge, there have been
only four case reports of Heimler’s
syndrome till date.
I present this case for its rarity in
world literature.

5. 5th Case Report
in World literature!
and
1st Case Report
in Indian literature!

6. HEIMLER’S SYNDROME
16 year old boy presented to ENT OPD with
complaints of:
Bilateral hearing loss since the age of 7 yrs.
On Examination:
 Both ear drums were normal and tuning fork
tests revealed bilateral sensorineural hearing
loss.
Oral cavity :
 Yellowish discoloration of teeth.

7. HEIMLER’S SYNDROME
 History of similar yellowish dental
discoloration in father and the youngest
sister.
 The whole family was examined and 2
siblings along with their father were
found to be affected.

9. HEIMLER’S SYNDROME
This eldest boy
presented with a
combination of:
•Bilateral mod-severe
sensorineural
deafness.
•Amelogenesis
imperfecta.
•Beau’s lines on nails
of fingers and toes.

10. Audiogram, teeth & nail
changes

11. HEIMLER’S SYNDROME
His youngest sister 11
years old also had:
•Bilateral severe to
profound sensorineural
deafness.
•Amelogenesis
imperfecta.
•Beau’s lines on nails.
•Idiopathic guttate
hypomelanosis.

12. Audiogram, teeth changes and
dental X Ray

13. Both the siblings were born at term
following normal birth.
Their birth weight was 2.5 and 3kg
respectively.
None of them had any major illness and
all developmental milestones were
achieved within normal limits.

14. HEIMLER’S SYNDROME
Father of these 2 siblings
aged 42 years had:
Bilateral mod-severe
sensorineural deafness.
Amelogenesis imperfecta
with severe attrition of
teeth.
Beau’s lines on nails.
Idiopathic guttate
hypomelanosis.

15. Audiogram, teeth and skin changes

16.  All three members exhibited peg
shaped teeth and dental caries.
 They also had dry scaly skin at places
cracked with bleeding and crust
formation.

17. The unaffected sibling

18. HEIMLER’S SYNDROME
 There was no intellectual impairment
in any of the affected members.

19. HEIMLER’S SYNDROME
 There was no history of consanguineous
marriage of parents.
 Mother of the siblings was normal.
 Their elder sister aged 14 years was
apparently normal.
 Biochemical investigations revealed
high levels of calcium in all three
siblings along with there father.

20. Summary of the Case study
Father Son Affected
daughter
Sensorineural
hearing loss
Bilateral
since
childhood
Bilateral
since 7yrs of
age
Bilateral
since 7yrs
of age
Primary
dentition
Normal Normal Enamel
hypoplasia
Permanent
dentition
Enamel
hypoplasia
with severe
attrition
Enamel
hypoplasia
Enamel
hypoplasia
Nail
abnormalities
Punctate
leukonychi
a with
Beau’s
lines (more
prominent)
Beau’s lines
(less
prominent)
Punctate
leukonychi
a with
Beau’s
lines (less
prominent)
Idiopathic
guttate
hypomelanosis
More
prominent
Less
prominent
Less
prominent
High serum + + +

21. Heimler’s Syndrome
 These findings were matched with the
collection of ectodermal abnormalities
previously identified & reported, and a
diagnosis of Heimler’s syndrome was
made.
 Audrey Heimler was the first to
describe and report these findings in
1991& the eponym given was
Heimler’s syndrome.

22. Heimler described 2 siblings who both
had profound bilateral sensorineural
hearing loss, amelogenesis imperfecta of
the permanent dentition, and Beau’s
lines.

23. HEIMLER’S SYNDROME
 Inheritance of this syndrome was
postulated to be autosomal recessive.
 They suggested that the syndrome could
be the result of single gene affecting
derivatives of the ectodermal tissue
because the abnormalities described have
a common embryologic origin in the
ectoderm.

24. Constellations of Heimlers syndrome ;
 Sensorineural hearing loss is probably
due to a defect of cells of the Organ of
Corti which are of ectodermal origin.
 Amelogenesis Imperfecta is enamel
hypoplasia affecting the primary and or
permanent dentition. It is classified
according to the predominant clinical
and radiographic appearance of the
enamel defect and on the mode of
inheritance of the trait.

25.  Beau’s lines are transverse lines across
the nails that can arise from severe
illness such as sepsis, acquired
immunodeficiency syndrome , bullous
pemphigoid and can also be
physiological in menstruating women.

26.  Idipathic guttate hypomelanosis are
multiple asymptomatic depigmented
macules usually seen on lower limbs and
sometimes on upper limbs and trunk. It is
supposed to be a type of guttate vitiligo.

27. DISCUSSION:
1st Case Report:
 The combination of sensorineural
hearing loss , amelogenesis imperfecta
and nail abnormalities was first
reported by Heimler et al in 1991.
 They described two siblings who had
profound bilateral sensorineural
hearing loss, amelogenesis imperfecta
of permanent dentition with Beau’s
lines and punctate leukonychia as nail
changes.

28.  Inheritance of this syndrome was
postulated to be autosomal recessive
which may hold true in our report.

29. 2nd Case Report:
 The second case reported was by Marc
Tischkowitz etal in 1999. The child had
unilateral sensorineural hearing loss
diagnosed at 7 years with enamel
hypoplasia of permanent dentition and
Beaus lines as nail changes.

30. 3rd Case Report:
 Pollack et al in 2003 reported a pair of
siblings who exhibited sensorineural
hearing loss diagnosed after 1st year and
enamel hypoplasia of permanent
dentition. However nail findings of
Beau’s lines and leuconychia were
absent in their cases.

31. 4th Case Report:
 The fourth case was reported by K. R.
Ong et al in 2006, of identical twin girls
with sensorineural deafness diagnosed at
3 years,enamel hypoplasia of permanent
dentition, nail abnormalities ie Beau’s
lines and leukonychia along with guttate
hypomelanosis.

32. Presently the 5th Case Report:
 Anjana A Mohite et al 2007, report a pair
of siblings along with their father who
had sensorineural deafness,enamel
hypoplasia with nail and skin changes in
the form of Beau’s lines, punctate
leukonychia and guttate hypomelanosis.

33.  Our case also emphasizes the importance
of thorough examination of the skin and
nails in patients presenting with a
combination of impaired hearing and
dental pathology.

34. World
Literature
Review
1st case1991
Heimler et al
2nd case1999
Tischkowitz
et al
3rd case2003
Pollack et al
4th case2006
K. R. Ong
et al
Present case 5th case
report 2007
Anjana.A.Mohite
et al
Sensorineural
hearing loss
Sib 1
Bilateral
diagnosed
at 18
months
Sib 2
Bilateral
diagnosed
at 2 ½
years
Single
Unilateral diagnosed
at 7 years
Sib 1
Bilateral
diagnosed
after 1st year
Sib 2
Bilateral
diagnosed
after 1st year
Identical
twin 1
Bilateral
diagnosed
at 3 yrs
Identical
twin 2
Bilateral
diagnosed
at 3 yrs
Father
Bilateral
since
childhood
Sib 1
Bilateral
diagnosed
at 7 years
Sib 2
Bilateral
diagnosed
at 7 years
Primary
dentition
Normal Normal Normal Normal Normal Normal Normal Normal Normal Enamel
hypoplasia
Permanent
dentition
Enamel
hypoplasia
Enamel
hypoplasia
Enamel
hypomineralisation
Enamel
hypoplasia
Enamel
hypoplasia
Enamel
hypo-
plasia
Enamel
hypo-
plasia
Enamel
hypo-
plasia
Enamel
hypoplasia
Enamel
hypoplasia
Nail
abnormalities
Punctate
leuko-
nychia,
Beau’s
lines
Punctate
leuko-
nychia,
Beau’s
lines
Beau’s lines Absent Absent leuko-
nychia,
Beau’s
lines
leuko-
nychia,
Beau’s
lines
Punctate
leuko-
nychia,
Beau’s
lines
Punctate
leuko-
nychia,
Beau’s
lines
Punctate
leuko-
nychia,
Beau’s
lines
Idiopathic
guttate
hypomelanosis
Absent Absent Absent Present + Less
prominent
Less
prominent
High serum
Calcium
--- --- --- --- + + +
Review of world literature revealed only 4 case reports

35. Ectodermal Dysplasia
 The term “Ectodermal Dysplasia” was
first introduced in 1929 to describe a
number of conditions that are present at
or shortly after birth in which 2 or more
of the body’s ectodermal structures
(example: hair, teeth, nails, sweat glands)
fail to develop or grow properly
(dysplasia).

36. Ectodermal Dysplasia
 There are 200 different types of
ectodermal dysplasia’s described in
medical literature.
 Incidence of occurrence is 7 cases per
10,000 births.

37. In early 1980’s, Dr. Friere- Maia and Dr.
Pinheiro classified ectodermal dysplasia’s
into;
 Type A---Pure ectodermal dysplasia
 Type B---Ectodermal dysplasia
syndromes.

38. Types of Ectodermal Dysplasia
 Type A ectodermal dysplasias consists of
congenital abnormalities of 2 or more
ectodermal structures, numbered as[1] Hair,
[2] Teeth, [3] Nails and [4] Sweat glands.
 Type B ectodermal dysplasias are defined as
having inherited abnormalities in one of the
four major structures plus one or more
abnormalities in other ectodermal structures
such as ears, lips or skin.

39. Heimler’s syndrome is a Type B
Ectodermal dysplasia syndrome.

40. Features of Ectodermal Dysplasia
 Hair: Very fine, sparse, fragile, light in colour.
 Teeth: Fewer in number or completely absent, when
present they are peg shaped or have enamel defects
with increased susceptibility to cavities and decay.
 Nails: Finger and toe nails may be thin & brittle.
 Sweat glands: Reduced number of sweat glands
which leads to difficulty in coping with increased
body temperature in hot weather.
 Skin: Dry, thin, scaly, cracked, susceptible to
bleeding and infection.
 Others: Hearing impairment, visual defects, cleft lip,
cleft palate.

41. Etiology of Ectodermal Dysplasia
 Ectodermal dysplasias arise because of
abnormalities in genes that control the
normal development of the ectodermal
structures.
 These gene mutations can be inherited
from one or both parents or they can arise
as a new genetic event.

42.  Genes involved in ectodermal
development have a critical role in the
life of an embryo and therefore mutations
in just one gene can often lead to several
faultily developed ectodermal structures.

43. Diagnosis of Ectodermal Dysplasia
 Most forms are diagnosed clinically.
 DNA screening of affected child and both
parents where facilities are available.
 Prenatal testing after careful discussion
with genetic counsellors.

44. Management of Ectodermal Dysplasia
 Unfortunately, there is no cure or
corrective treatment for any form of
ectodermal dysplasia.
 Fortunately, these syndromes are usually
non progressive and generally do not
affect overall lifespan.

45. Conclusion
 For several individuals with
Ectodermal dysplasia healthcare may
be needed from dentist, plastic
surgeons, paediatricians,
dermatologists and many other
personnel.

46.  In future it may be possible to
improve some forms of ectodermal
dysplasia when the affected
individual is still an embryo within
its mothers womb but such goals are
still confined to research laboratories
at present.

47. Heimler’s Syndrome
What the mind doesn’t know,
the eyes cannot see;
But, what the eyes can see,
the mind can always make
An attempt to know!

48. HEIMLER’S SYNDROME
THANK YOU !