A CASE REPORT OF HYPOHIDROTIC ECTODERMAL DYSPLASIA IN NAIROBI,
KENYA
- Nicholas Gichu Consultant Paediatric Dentist, Nairobi, Kenya.
University of Nairobi.
nicholasgichu@gmail.com
- Alice Waireri General Dental Practitioner, Nairobi, Kenya
University of Nairobi
alwawambui@gmail.com
- Mark Davies Nyanumba, General Dental Practitioner, Nairobi, Kenya
University of Nairobi
markdaviesnyanumba@gmail.com
ABSTRACT.
Ectodermal dysplasia (ED) is defined as a rare hereditary disorder
involving two or more of the ectodermal structures, which include the
skin, hair, nails, teeth, and sweat glands. The two most common forms of
the disease are hypohidrotic/anhidrotic ED (Christ-Siemens-Touraine
syndrome) and hidrotic ED (Clouston’s syndrome). The incidence of ED is
1 in 100,000 live births with the aetiology being attributed to a gene
mutation.1
This case report presents the features, classification and management of
a 2-year-old presenting with hypohidrotic ectodermal dysplasia in a
private dental clinic in Nairobi, Kenya
INTRODUCTION.
Ectodermal dysplasia is a rare genetic disorder characterised by the
presences of a congenital defect of 2 or more tissues derived from the
embryonic ectoderm with the tissues affected being teeth, skin and its
appendages.2 There are currently more than 192 ED
syndromes with varying modes of inheritance.
ED can occur as early as the 6th week of intrauterine life and during
the first trimester. There are two major classifications of the disorder
which is based on number and functionality of sweat glands. First type
is anhidrotic/hypohidrotic ED (Christ-Siemens-Touraine syndrome);
whereby sweat glands are significantly reduced or absent. The second
type is the Hidrotic ED (Clouston’s syndrome); whereby the sweat glands
are normal.3
Hypohidrotic ED is more common and is usually inherited as an X-linked
recessive trait hence exhibiting a male
preponderance.4 The earliest report of a patient with
ectodermal dysplasia was published in 1848 by Thurnam et al. and the
term ectodermal dysplasia was coined in 1929 by Weech et
al.5
CASE REPORT
A mother presented her 2-year-old son to the dental clinic. The
presenting complaint was that her son had very few teeth for his age and
they were extremely pointy and sharp. As a result, they were causing
serious injury to his younger brother when biting him during play. The
parent requested to have the few teeth to be blunted and to have the
missing teeth replaced. In addition, the mother was distraught with
concern over the child’s aesthetics and poor feeding due to the lack of
teeth. Family history revealed that the disorder was present in some of
the patient’s maternal cousins and some of his maternal uncles. General
examination revealed that the patient was responsive, conscious and
pleasant, however, patient was non-cooperative on the dental chair.
Extra-orally the patient had frontal bossing, sunken cheeks, a saddle
nose, thick protruded everted lips, large low set ears, wrinkled and
hyperpigmented skin around the eyes. The hair on the scalp was sparse,
short and fine (Figure 1 and 2). His nails were thin, brittle appearing
with abnormal ridging on the toe nails (Figure 5 and 6). Intraorally
there was dry mucosa indicative of xerostomia. Hypodontia was present
with only tooth number 51 and 61 conically shaped crowns being visible
clinically. The alveolar ridge was knife shaped indicative of
congenitally missing teeth (Figure 3). An Orthopantomogram (Figure 4)
showed typical conical teeth and congenital hypodontia. With no reported
history of parental consanguinity and the disorder presentation being
more pronounced in males from the patient’s maternal side the authors
labelled the ED as an X-linked recessive ED.6
Oral hygiene instructions were given and together with diet counselling.
Genetic counselling was given and mother educated about the condition
and the dental effects of xerostomia. Fluoride application was done
using 1.23% Acidulated Phosphate Fluoride. The immediate management
provided was to blunt the conically shaped teeth (51 and 61) to minimize
the possibility of trauma to self or to others. Using a high-speed
handpiece and a white-stone bur, the incisal tips were slightly rounded
to reduce the sharpness. This was repeated after 6 weeks, to minimize
the risk of sensitivity. The missing teeth will be replaced by a dental
prosthesis which would be fabricated after further growth of the child
and subsequently further eruption.
DISCUSSION
Hypohidrotic ectodermal dysplasia (HED) is usually transmitted as an
X-linked recessive trait where females are carriers and is manifested in
males. The unaffected female has 50% chance of transmitting this
disorder to both her male and each female child. Female offspring have a
50% chance of inheriting the defective gene, thereby being a carrier.
There is minimal expression in female carriers in the form of hypodontia
and or conical teeth and reduced sweating.6 There is
possibility of spontaneous gene mutation where it may occur in family
without any history of the syndrome. The prevalence in the population
ranges between 1:10,000 and 1:100,000 male live
births.4
Clinical features of ectodermal dysplasia include: hypohidrosis where
there is decreased sweating than usual as the eccrine glands may be
absent, sparse or rudimentary. This often affects the patient’s heat
tolerance. Onychodysplasia is common where there is congenital non
hereditary nail disorder. Nail defects may differ by syndrome for
example nails for those with Clouston’s syndrome can be thick and
discoloured with slow growth while those with hypohidrotic ectodermal
dysplasia experience thin, brittle nails.7Hypotrichosis is seen where the hair on the scalp and eyebrows is sparse
and fine in texture. Excessive drying and scaling of the skin is due to
diminished number of sebaceous glands therefore reduced sebum production
(asteatosis).3 Typical facial profile of the patient
includes frontal bossing, sunken cheeks and a saddle nose; midface
hypoplasia is evident often resulting in thick, protruded and everted
lips, the skin around the eyes is wrinkled and hyperpigmented, and
large, low-set ears, retruded appearance of the midface and reduced
vertical dimension of face.
Patients with ectodermal dysplasia exhibit characteristic intraoral
features. There may be total absence of teeth (anodontia) or partial
absence of teeth (hypodontia) which are conically or peg shaped. This
results in decreased vertical dimension. The alveolar ridge is not fully
developed and high palatal arch and cleft palate may occur. Intraoral
accessory glands may be hypoplastic resulting in xerostomia and
consequently dry and cracked lips. Lexner et al. reports that affected
males will present with severe oligodontia while female carriers are
likely to have milder hypodontia. 8
Other common features are seen due to aberrations in keratinocyte
function such as ophthalmic diseases, impaired lacrimal gland function
and glaucoma. Respiratory health related issues such as foul-smelling
nasal discharge, respiratory infections, recurrent pneumonias and
wheezing, recurrent sinus are largely reported. This is caused when
mucous glands are absent in the upper respiratory tract, bronchi and
esophagus. 9
Although timely diagnosis of HED can be difficult due to absence of hair
and teeth at birth, dental treatment should start as soon as possible so
as to minimize chances of abnormalities in speech and detrimental oral
habits. It should seek to restore function and esthetics. This is often
done as early as 3 years where prosthesis can be fabricated and later on
implants can be considered so as to improve quality of
life.10
CONCLUSION
A multidisciplinary approach is important for the definitive management
of patients affected by ectodermal dysplasia. Dental treatment is
customized for every patient at different ages and often times requires
long term care and may need complex procedures to ensure the patient has
improved oral health related quality of life.
REFERENCES.
- Saraswarthi G and Sai A. 2017. Ectodermal dysplasia Report of 2 cases
and review of literature. International Journal of current research
9(2): 47073-47077.
- Freire-Maia N. 1977. Ectodermal dysplasias revisited. Acta geneticae
medicae et gemellologiae: twin research 26(2):121-131.
- Pandey R, Khatri A. 2017. Dental Management of Ectodermal Dysplasia: A
Report of Two Cases. Indian J Dent Adv 9(3):191-196.
- Deshmukh S, Prashanth S. 2012. Ectodermal dysplasia: a genetic review.
International Journal of Clinical Pediatric Dentistry 5(3):197.
- Weech AA. 1929. Hereditary ectodermal dysplasia (congenital ectodermal
defect): a report of two cases. American Journal of Diseases of
Children 37(4):766-790.
- Pinheiro M, Freire‐Maia N. 1994. Ectodermal dysplasias: A clinical
classification and a causal review. American journal of medical
genetics 53(2):153-162.
- National Foundation of Ectodermal Dysplasia. Accessed via:
Symptoms - NFED.
- Lexner MO, Bardow A, Hertz JM, Nielsen LA, Kreiborg S. 2007. Anomalies
of tooth formation in hypohidrotic ectodermal dysplasia. International
Journal of Paediatric Dentistry 17(1):10-18.
- Fete M, Hermann J, Behrens J, Huttner KM. 2014. X‐linked hypohidrotic
ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an
international patient registry. American Journal of Medical Genetics
Part A 164(10):2437-2442.
- National Foundation of Ectodermal Dysplasia. Accessed via:
Dental
Treatment Options - NFED.
FUNDING INFORMATION
There was no source of funding for this study.
CORRESPONDING AUTHOR
Dr. Nicholas Gichu. Consultant Pediatric Dentist. Email:
nicholasgichu@gmail.com.
AKNOWLEDGEMENTS
Published with the written consent of the patient’s parent.
CONFLICT OF INTEREST
No conflict of interest to declare.
ETHICAL APPROVAL
The manuscript was prepared according to standard publication ethical
guidelines.
ORCID
NICHOLAS GICHU
https://orcid.org/0000-0002-1446-459X