Download Hypohydrotic Ectodermal Dysplasia: A Case Report and Review

Case Report
Hypohydrotic Ectodermal Dysplasia: A Case Report and
Review
Almas Patel1, Avinash Kshar2, Raghavendra Byakodi3, Arati Paranjpe4, Sunil Awale5
1
Postgraduate Student, 2Professor & Head, 3Reader, 4,5Senior Lecturer
Department of Oral Medicine & Radiology, Vasantdada Patil Dental College and Hospital Kavalapur, Sangli, India.
Corresponding Author: Dr. Sunil Awale, Department of Oral Medicine & Radiology, Vasantdada Patil Dental College
and Hospital Kavalapur, Sangli, Maharashtra, India. E-mail: [email protected]
Abstract
Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked
recessive hypohidrotic ectodermal dysplasia (HED) and has a full expression in males, whereas females show
little to no signs of the disorder. The two most common types of ectodermal dysplasias are the X-linked
recessive hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome), and hidrotic ectodermal
dysplasia (Clouston syndrome). Hypohidrotic ectodermal dysplasia is characterized by hypodontia,
hypotrichosis and hypohydrosis. We present a case of a 17 year old male patient suffering from hypohydrotic
ectodermal dysplasia and a review on hypohydrotic ectodermal dysplasia discussing the etiology, clinical
features, diagnosis and treatment plan.
Keyword: Hypohidrotic Ectodermal Dysplasia, Hypodontia, Hypohydrosis, Prosthetic Therapy
Introduction:
Ectodermal dysplasia is a congenital, diffuse and
nonprogressive hereditary disorder first described by
Thurman1,2 which occurs due to disturbances in the
ectoderm of the developing embryo. It is basically of
two types i.e hypohidrotic ectodermal dysplasia also
known as Christ-Siemens-Touraine syndrome, and
hidrotic ectodermal dysplasia also known as Clouston
syndrome.3 The clinical features associated with
Ectodermal dysplasia most commonly consists of
onchodysplasia,
alopecia
or
hypotrichosis,
2, 4-6
hypohidrosis and hypodontia.
Case Report:
A 17yr old male reported to our institution with a
chief complaint of missing tooth in upper and lower
anterior region. Patient gave no history of exfoliation
or extraction of teeth but gave a history of delayed
eruption of teeth. When asked about a similar history
in the family patient gave a positive history of his
sister suffering from a similar complaint. Patient also
complained of dry skin (Figure No. 1) and absence of
sweat in his skin (Figure No. 2) and he was
intolerable to withstand hot water and hot
environment. Patient also gave a history of dry mouth.
On extra oral examination, patient had scanty
eyebrows and eyelashes (Figure No. 1) along with
frontal bossing and a saddle nose was evident.
Intra orally patient was partially edentulous
(Figure No. 3). Maxillary anterior teeth appeared to
be conical, high arched palate was seen on clinical
examination (Figure No. 4). His OPG was relevant to
the above findings (Figure No. 5). So with the above
intraoral and extraoral clinical findings regarding the
complain of absence of sweat, a diagnosis of
Hypohydrotic Ectodermal Dysplasia was made.
Discussion:
The ectodermal dysplasias are a heterogenous
group of inherited disorders which occur
approximately one in every 100,000 births which are
caused by primary defects in the development of two
or more tissues derived from the embryonic
ectoderm.7
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Patel, et al: Hypohydrotic Ectodermal Dysplasia
Table No. 1: Differences between the Hydrotic and Hypohydrotic Forms of Ectodermal Dysplasia
Mode of Inheritance
Scalp Hair
Teeth
Lips
Sweat glands
Nasal bridge
Nails
Eyebrows
Eyelashes/Pubic/Axillary
hairs
Hydrotic
Most often autosomal
dominant
Soft, dawny, color is darker
Anodontia to hypodontia
No Abnormality
Active
No Flattening
Dystrophic nails
Frequently Absent
Hypohydrotic
Most often autosomal
Recessive
Fine in texture, fair and short
Anodontia to hypodontia
Protruding
Reduced to absent
Underdeveloped
No Abnormality
Absent
Scanty/absent
Variably affected
Figure No. 1 & 2: Extraoral Examination of the Patient
Figure No. 3 & 4: Intraoral Examination of the Patient
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Patel, et al: Hypohydrotic Ectodermal Dysplasia
Figure No. 5: OPG of the Patient
More than 300 cases which had undergone genetic
studies revealed that X linked mode of inheritance
with its gene locus being Xq11-21.1, is carried by the
female but manifested only in the male.8
Improvements in esthetics, speech, masticatory
efficiency as well as to improve both sagittal and
vertical skeletal relationship during craniofacial
growth and development has to be provided by oral
rehabilitation.2
Freire-Maia and Pinheiro proposed the first
classification system of the ectodermal dysplasias in
1982,9 and provided additional updates in 1994 and
2001.10 The patients were classified into subgroups
which were based on the presence or absence of the
following ie trichondysplasia (abnormal hair),
abnormal dentition, onchondysplasia (abnormal nails)
and dyshidrosis (abnormal or missing sweat glands).11
Ectodermal dysplasias were classified into either
group A or group B disorder .Group A disorder are
manifested by at least two of the four classic defects
of ectodermal structures as defined above, with or
without other defects, group B disorders, were
manifested by a defect in one classic ectodermal
structure (1-4 from above) in combination with5, a
defect in one other ectodermal structure (i.e., ears,
lips, dermatoglyphics). In group A eleven subgroups
were defined, each with a distinct combination of two
or more ectodermal defects (e.g., 2-4, 1-3, 1-4 from
above). The group B disorders were indicated as 1-5,
2-5, 3-5 or 4-5 (from above). Table No. 1 shows
differences between the hydrotic and hypohydrotic
forms of ectodermal dysplasia.12
It results from developmental defect of embryonic
ectodermal structures and the genetic defects
responsible for approximately 30 of the ectodermal
dysplasia have been identified.13-15 The two types of
Ectodermal dysplasia i.e. X linked recessive
hypohidrotic ectodermal dysplasia (EDA or Christsiemens-Touraine syndrome) are caused by
maturation in EDA, which encodes for ectodysplastin
protein16,17 and hidrotic ectodermal dysplasia, which
is an autosomal dominant disorder, is caused by
mutation in GJB, which encodes for connexin 30.18
Mutation in the DL gene, which encodes for the EDA
receptor causes autosomal dominant and autosomal
recessive hypohidrotic ectodermal dysplasia.19
Ectodermal dysplasia is basically divided into two
broad categories ie hypohidrotic form(ChristTouraine Syndrome) which is X-linked and is
characterized by the classical triad of hypodontia,
hypotrichosis and hypohidrosis and the other category
ie hidrotic form(Clouston Syndrome), which also
affects the teeth, hair and nails sparing the sweat
glands.20
Extraorally fine, sparse, lustreless fair hair is seen
over the scalp along with extensive scaling of the skin
and unexplained pyrexia and heat intolerance most
commonly occurs due to anhidrosis.
Normal
20-22
intelligence is observed.
The other extra–oral
features are frontal bossing, sunken cheeks, depressed
nasal bridge, thick everted protuberant lips, wrinkled
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Patel, et al: Hypohydrotic Ectodermal Dysplasia
hyper pigmented periorbital skin and a large low set
of ears.21
Intraorally missing permanent teeth are most
commonly present, the maxillary central incisors and
canines present with a conical crown form. In rare
instances, one or both jaws may be edentulous and the
alveolar processes may not develop due to the absence
of teeth.20
Diagnosis is most commonly based on family
history, thorough clinical and radiographic
examination. History of hyperpyrexia and the tooth
form and tooth morphology leads to the diagnosis.
However the diagnosis in early infancy is difficult as
the manifestations involving teeth, hair and inability
to sweat are difficult to detect.23 Diagnostic criteria
regarding
the
structural
and
biochemical
characteristics of hair, dermatoglyphic analysis,
characteristics of lacrimal secretion and missing teeth
have also been studied.24,25
Treatment should be initiated in children suffering
from ectodermal dysplasia by providing dentures as
early as 2 years of age.26 Due to difficulty in
mastication and speech, implantation of prosthetic
teeth in adults is necessary. A positive self image
outlook and an overall oral health must be
incorporated by providing aesthetic dental
interventions at proper time in patients with ED.27-31
Conclusion:
The clinical manifestations of ectodermal
dysplasia cause considerable social problems in
individuals affected by the condition. It not only
affects the oral functions of the patient bu the normal
body functions also get hampered. A correct diagnosis
& treatment by the multidisciplinary approach can be
helpful for the successful management of the patient.
References:
1. Nunn JH, Carter NE, Gillgrass TJ, Hobson RS,
Jepson NJ, Meechan JG, et al. The
interdisciplinary management of hypodontia:
background and role of paediatric dentistry. Br
Dent J. 2003; 194:245-51.
2. Tarjan I, Gabris K, Rozsa N. Early prosthetic
treatment of patients with ectodermal dysplasia: a
clinical report. J Prosthet Dent. 2005; 93:419-24.
3. Mortier K, Wackens G. Ectodermal Dysplasia
anhidrotic. Orphanet Encyclopedia. 2004; 1-6.
4. Vieira KA, Teixeira MS, Guirado CG, Gaviao
MB. Prosthodontic treatment of hypohidrotic
ectodermal dysplasia with complete anodontia:
case report. Quintessence Int. 2007; 38:75-80.
5. Abadi B, Herren C. Clinical treatment of
ectodermal dysplasia: a case report. Quintessence
Int. 2001; 32:743-45.
6. Yavuz I, Ulku SZ, Unlu G, Kama JD, Kaya S,
Adıguzel O, Kaya FA, Tumen EC, Zortuk M,
Bahsi E, Arslanoglu Z et al. Ectodermal dysplasia:
clinical diagnosis. Int Dent Med Disorders. 2008;
1:1-10.
7. Clarke A. Hypohidrotic ectodermal dysplasia. J
Med Genet. 1987; 24:659-63.
8. Itthagarun A, King NM. Ectodermal Dysplasia: a
review and case report. Quintessence Int. 1997
Sept; 28(9):595-02.
9. Pinheiro M, Freire-Maia N. The ectodermal
dysplasias Arch. Dermatol. 1982 April;
118(4):215-6.
10. Pinheiro M, Freire-Maia N. Ectodermal
dysplasias: a clinical classification and a causal
review. Am J Med Genet. 1994 Nov1; 53(2):15362.
11. Pigno MA, Blackman RB, Cronin RJ, Cavazos E.
Prosthodontic management of ectodermal
dysplasia: A review of literature. J Prosthet Dent.
1996; 76: 541-5.
12. Sharma Jyothi, GP Mamatha. Hereditary
ectodermal dysplasia:diagnostic dilemmas Rev
Clin Pesq Odontol 2008 Jan; 4(1):35-40.
13. Smith FJ, jonkman Mf, Van Goor, et al. A
mutation in human keratin K6b produces a
phenocopy of the K17 disorders panchyonychia
type-2 Hum Mol Genet. 1998 Jul; 7(7):1143-48.
14. Mclean WH et al .Keratin 16 and keratin 17
mutations causes pachynochia congenita. Nat
Genet. 1995 March; 9(3):273-78.
15. Boden PE, Haley JL, et al. Mutation of type-2
Keratine gene (K6a) in pachyonychia congenital
Nat Genet. 1995 Jul; 10(3):363-65.
International Journal of Advanced Health Sciences | September 2014 | Vol 1 | Issue 5
41
Case Report
Patel, et al: Hypohydrotic Ectodermal Dysplasia
16. Kere J, Srivastava AK, Montonen O, et al. Xlinked anhidrotic (hypohydrotic) ectodermal
dysplasia is caused by mutation in a novel
transmembrane protein. Nat Genet. 1996 Aug;
13(4):409-16.
17. Monreal AW, et al. Identification of a new splice
form of the EDA 1 gene permits detection of
nearly all X-linked hypohidrotic ectodermal
dysplasia mutation (published erratum appears in
Am J Hum Genet). 1998 Aug; 63(4):1253-55.
18. Lamartine J, Munhoz, et al. Mutation in GJB6
causes hidrotic ectodermal dysplasia. Nat Genet.
2000 Oct; 26(2):142-44.
19. Monreal AW, Ferguson BM, Headon, et al.
Mutation in the human homologue of mouse dl
cause autosomal recessive and dominant
hypohidrotic ectodermal dysplasia. Nat Genet.
1999 Aug; 22(4):366-69.
20. Crawford PJ, Aldred MJ, Clarke A, Tso MS.
Rapp-Hodgkin syndrome: An ectodermal
dysplasia involving the teeth, hair, nails and
palate. Oral Surg Oral Med Oral Pathol. 1989;
67:50-62.
21. Saggoo S, Munde A, Hebbale M, Joshi M.
Ectodermal Dysplasia. Journal of Indian
Academy of Oral Medicine and Radiology. 2009;
21(2): 76-78.
22. Ramos V, Giebink DL, Fisher JG, Christensen
LC. Complete Dentures for a child with
Hypohidrotic Ectodermal Dysplasia: A Clinical
Report. J Prosthet Dent. 1995; 24:329-31.
23. Kupietzky A, Houp M. Hypohydrotic ectodermal
dysplasia characteristics and treatment. Quint Int.
1995; 26:285-91.
24. Pabst HF, Groth O, McCoy EE. Hypohydrotic
ectodermal dysplasia with hypothyroidism. J
Pediatr Dent. 1981; 98:223-27.
25. Kargul K, Akan T, Kabalay U, Atasu M.
Hypohydrotic ectodermal dysplasia: Dental,
clinical, genetic and dermatoglyphic findings of 3
cases. J Clin Pediatr Dent. 2001; 26(1):5-12.
26. Yenisey M, Guler A, Unal U. Orthodontic and
prosthodontic treatment of ectodermal dysplasia
case report. Br Dent J. 2004; 196:677-9.
27. Ohno K, Ohmori I. Anodontia with hypohidrotic
ectodermal dysplasia in a young female: a case
report. Pediatr Dent. 2000; 22:49-52.
28. Yavuz I., Baskan Z, Ulku R, Dulgergil T.C, Dari
O, Ece A, Yavuzve Y, Dari O. “Ectodermal
Dysplasia: Retrospective Study of 15 Cases,”
Archives of Medical Research. 2006; 37:403-09.
29. Baksan Z, Yavuz I, Ulku R, Kaya S, Yavuz Y,
Basaran G, Adiguzel O, Ozer T.“Evaluation of
Ectodermal Dysplasia,” Kaohsiung Journal of
Medical Sciences 2006; 22:171-76.
30. Yavuz I, Kiralpve S, Baskan Z. “Hypohyrotic
Ectodermal Dysplasia: A Case Report,”
Qinttessence International 2008; 39: 81-86.
31. Yildirim M, Oktay MF, Ozmen C, Yavuz I, Topcu
I. “Reveal By Biotechnological Equipment to The
Bilateral Nonfunctional Submandibular Glands in
Ectodermal
Dysplasia”, Biotechnol. &
Biotechnol. Eq. 22 2008; 1005-1007.
How to Cite: Patel A, Kshar A, Byakodi R, Paranjpe A, Awale S. Hypohydrotic Ectodermal Dysplasia: A Case Report
and Review. Int J Adv Health Sci 2014; 1(5): 38-42.
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