Indian Dermatology Online Journal

THROUGH THE LENS
Year
: 2015  |  Volume : 6  |  Issue : 2  |  Page : 136--137

Hypohidrotic ectodermal dysplasia


Vagish Kumar L Shanbhag 
 Department of Oral Medicine and Radiology, Yenepoya Dental College and Hospital, Yenepoya University, Mangalore, Karnataka, India

Correspondence Address:
Vagish Kumar L Shanbhag
Department of Oral Medicine and Radiology, Yenepoya Dental College and Hospital, Yenepoya University, Mangalore, Karnataka
India




How to cite this article:
Shanbhag VL. Hypohidrotic ectodermal dysplasia.Indian Dermatol Online J 2015;6:136-137


How to cite this URL:
Shanbhag VL. Hypohidrotic ectodermal dysplasia. Indian Dermatol Online J [serial online] 2015 [cited 2020 Aug 6 ];6:136-137
Available from: http://www.idoj.in/text.asp?2015/6/2/136/153023


Full Text

A 16-year-old female patient presented with the complaint of missing teeth. Examination revealed frontal bossing, depressed nasal bridge and sunken cheeks, xerotic skin, dry thin lusterless sparse hair over the scalp and eyelashes [Figure 1] and [Figure 2]. Lips were thick, full and everted [Figure 3]. Periorbital and perioral skin wrinkling with hyperpigmentation was noted. Oral mucosa, nails, palmoplantar surfaces were normal. Cone shaped 53, 63 with microdontic 24, 25 was observed [Figure 3] and [Figure 4]. The remaining alveolar ridges were completely edentulous [Figure 3] and [Figure 5]. The patient had hearing loss with near sighted vision, decreased salivation, complete absence of sweating and mental retardation.{Figure 1}{Figure 2}{Figure 3}{Figure 4}{Figure 5}

Ectodermal dysplasias are a group of X-linked inherited disorders characterized by dysplasia of tissues of ectodermal origin with prevalence of approximately 1:1,00,000 live births and is caused by genetic defects in ectodysplasin signal transduction pathways located at Xq12-13. [1],[2] It is usually seen in males and is inherited through female carriers. [3] Hypohidrotic ectodermal dysplasia is characterized by three classical triad of hypodontia, hypotrichosis, and hypohidrosis. Dry scaly skin and unexplained pyrexia and heat intolerance occur due to anhidrosis due to their diminished ability to sweat. [4],[5]

Intraorally, multiple missing teeth especially permanent teeth, root, and crown dysmorphism (such as conical teeth) and reduced salivary flow is seen. [2],[4],[5] Very rarely, one or both jaws may be edentulous. [4] A depressed nasal bridge (saddle nose) gives the impression of a small sized face. [5]

Treatment is symptomatic management that involves multidisciplinary approaches as oral rehabilitation, restorative procedures, and maintenance of cool, ambient temperature to prevent hyperthermia. [1]

 ACKNOWLEDGMENT



The author would like to thank Dr. Laxmikanth Chatra, Head of Department of Oral Medicine and Radiology, Yenepoya Dental College for his moral support.

References

1Sybert VP. Ectodermal dysplasias. In: Fitzpatrick TB, Wolff K, Goldsmith AL, Gilchrest AB, Paller SA, Leffell JD, editors. Dermtology in General Medicine. 7 th ed. New York, NY: McGraw-Hill; 2008. p. 1339-48.
2Freiman A, Borsuk D, Barankin B, Sperber GH, Krafchik B. Dental manifestations of dermatologic conditions. J Am Acad Dermatol 2009;60:289-98.
3Priolo M, Laganà C. Ectodermal dysplasias: A new clinical-genetic classification. J Med Genet 2001;38:579-85.
4Crawford PJ, Aldred MJ, Clarke A, Tso MS. Rapp-Hodgkin syndrome: An ectodermal dysplasia involving the teeth, hair, nails, and palate. Report of a case and review of the literature. Oral Surg Oral Med Oral Pathol 1989;67:50-62.
5Ramos V, Giebink DL, Fisher JG, Christensen LC. Complete dentures for a child with hypohidrotic ectodermal dysplasia: A clinical report. J Prosthet Dent 1995;74:329-31.