What is Hypohidrotic Ectodermal
Dysplasia?
How is Hypohidrotic Ectodermal
Dysplasia inheritied?
Hypohidrotic Ectodermal Dysplasia is an
abnormal development of ectodermal
structures such as skin, nails, hair, teeth, and
sweat glands. It is a very rare condition that
occurs in an estimated one per 100,000 live
births. Most cases are caused by the mutations
of different genes before birth and it is linked to
the X-chromosome.
 EDA (Ectodysplacin) Gene-Most
common
 EDAR (Ectodysplacin Receptor) GeneLeast common
This syndrome is hereditary which can be
passed on by dominant or recessive
chromosomes. Most cases are:
 Hereditary
 Inherited from one or both parents
 Diagnosed at or shortly after birth
 Men more affected than women
 Considered X-linked if the mutated
gene that causes the syndrome is
located on the X chromosome
This disorder is most often caused by mutations
in the EDA gene, which is inherited by an Xlinked recessive pattern. Males are more
affected because one altered copy of the gene
in each cell is enough to cause this disorder.
Females are less likely to show the full signs and
symptoms of hypohidrotic ectodermal dysplasia
since a mutation must be present in both copies
of the gene to cause the disorder. A female
that has one altered copy of the mutated gene
is a carrier who may pass on the trait to her
sons or daughter.
Signs and Symptoms
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Missing teeth
Thin hair
Dry, scaly skin
Poor sweat glands
Inadequate development of
fingernails
 Facial abnormalities such as
prominent supra orbital ridges,
sunken cheeks and eyes, frontal
bossing, thick lips, larger chin, and
saddle nose
 The teeth that are present in the
mouth may be pegged or conical
shaped and widely spaced
How can it be diagnosed?
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Full medical/dental history
Ask questions
Family history
Head & neck exam
Oral exam
Radiographs
Treatment after diagnosis
 Dentures
 Dental implants
 Orthodontics
Importance of Early Diagnosis
REFERENCES:
Clauss, F., Chassaing, N., Smahi A., Vincent, M. C.,
There should always be extensive history
taking from our patients because the
objective is to be able to recognize possible
genetic disorders that may affect the
dentition. Oral and radiographic evaluation
can also help determine why our patients
have missing teeth that could possibly have
the disorder. Carriers of this syndrome may
go undiagnosed for hypohidrotic
ectodermal dysplasia if hypondontia is
minor and no other signs and symptoms are
noticed. It is important to detect this
genetic disorder early:
 To know what treatment to provide
 Better treatment
 If dentures are needed
 To help maintain the alveolar ridge
for implant placement
 To have a more fully functional
dentition as an adult
Calvas, P., Molla, M., Lesot, H., Alembik,
Y., Hadj-Rabia, S., Bodemer, C., Maniere,
M. C., & Schmittbuhl, M. (2010). X-linked and
autosomal recessive hypohidrotic ectodermal
dysplasia: Genotypic-dental phenotypic
HYPOHIDROTIC
ECTODERMAL
DYSPLASIA
findings. Clinical Genetics, 78, 257-266.
Deshpande, S. N., & Kumar, V. (2010). Ectodermal
dysplasia maxillary and mandibular alveolar
reconstruction with dental rehabilitation: A case
report and review of the literature.
Indian Journal of Plastic Surgery, 43(1), 92-96.
Jayantilal, P. R., Rajesh, S., Naveen Y. G., &
Nandini, P. (2010). Treatment considerations for
a patient with ectodermal dysplasia: A case
report. Journal of International Oral
Health, 2(4), 73-78.
Lukes, S., & Sherry, J. S. (2010). Hypohidrotic
ectodermal dysplasia. RDH, 31(1), 92-96.
Retrieved from http://www.rdhmag.com
Manuja, N., Passi, S., Pandit, I. K., & Singh, N.
(2011). Management of a case of ectodermal
dysplasia: A multidisciplinary approach.
Journal of Dentistry of Children, 78(2), 107-110.
Shah, K. N. (2010, January 24). Ectodermal
dysplasia treatment & management. Medscape
Reference: Drugs, Diseases, & Procedures.
Retrieved from
http://emedicine.medscape.com/article/1110595overview
PRESENTED BY:
GUADALUPE COMPEAN, DENTAL
HYGIENE STUDENT
DIANA MARTINEZ, DENTAL HYGIENE
STUDENT
LAMAR INSTITUTE OF TECHNOLOGY
DENTAL HYGIENE PROGRAM