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| CASE REPORT |
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| Year : 2012 | Volume
: 4
| Issue : 3 | Page : 167-168 |
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Hypohidrotic ectodermal dysplasia
Manish Bansal, Kajal Manchanda, Shyam Sunder Pandey
Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India
| Date of Web Publication | 24-Aug-2012 |
Correspondence Address:
Manish Bansal
Assistant Professor, Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0974-7753.100084
 Abstract | | |
Ectodermal dysplasias (ED) are a group of inherited disorders characterized by dysplasia of structures of ectodermal origin, clinically classified into hypohidrotic and hidrotic forms. A 21-year-old female presented with history of hypohidrosis, thinning of scalp and eyebrow hair, xerotic skin, and periorbital and perioral wrinkling. There was hypodontia and peg-shaped teeth on intraoral examination. Routine investigations were normal, orthopantomogram revealed absence of multiple teeth with peg-shaped teeth. Histopathological examination showed thinned epidermis and reduction in the number of eccrine units. Thus, the diagnosis was confirmed as Hypohidrotic ED. Keywords: Ectodermal dysplasia, hypodontia, hypohidrotic
How to cite this article:
Bansal M, Manchanda K, Pandey SS. Hypohidrotic ectodermal dysplasia. Int J Trichol 2012;4:167-8 |
| Introduction | |  |
Ectodermal dysplasias (ED) are a group of inherited disorders characterized by dysplasia of tissues of ectodermal origin primarily hair, teeth, nail, and sweat glands. [1] Clinically, ED may be broadly classified into hypohidrotic and hidrotic form. It is characterized by abnormalities comprising sparse hair (hypotrichosis), abnormal or missing teeth (hypodontia or anodontia), and an inability to sweat (hypohidrosis or anhidrosis). [2] Expression of symptoms is full blown in affected males but carrier females may express none, some, or all of the features in a patchy distribution. [1] We hereby describe a case of hypohidrotic ED (HED) in a young female.
| Case Report | | |
Twenty-one-year-old female presented with history of decreased sweating, loss of eyebrows, thinning of scalp hair, and dry, wrinkled skin for duration of 5 years. There was no history suggestive of systemic involvement. There was no similar history in any of the family members. On examination, frontal bossing was present with slightly depressed nasal bridge. Skin was xerotic and showed wrinkling mainly involving periorbital and perioral area [Figure 1]. Hairs were dry, lusterless, and sparse mainly over eyebrows [Figure 1]. Nail and mucosae were normal. On intraoral examination, there was hypodontia and peg-shaped incisors. Systemic examination was within normal limits. Histopathology of skin revealed thin and flattened epidermis with reduction in the number of eccrine units [Figure 2]a. Routine investigations including complete blood count, liver and renal function tests, chest radiographs, and urinalysis were within normal limits. Orthopantomogram revealed absence of multiple teeth along with peg-shaped teeth [Figure 2]b. The diagnosis of HED was made on the basis of history, clinical examination, and investigations. The patient was prescribed topical emollient, advised about thermoregulation, and referred to department of orthodontics for expert dental management. | Figure 1: Sparse eyebrow, periorbital hyperpigmentation and wrinkling, hypodontia with peg-shaped teeth
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 | Figure 2: (a) Histopathology of skin showing thinning of epidermis, reduction in number of eccrine units (H and E, 400×); (b) Orthopantomogram showing absence of teeth and multiple peg-shaped teeth
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| Discussion | | |
ED represent a group of hereditary conditions that share in common developmental defects involving at least two of the major structures including hair, teeth, nail, and sweat glands, classically held to derive from embryonic ectoderm. The prevalence is approximately 1 in 1 00 000 live births. [1],[3] More than 192 distinct disorders have been described till date. [4] Clinically, the main forms described are hypohidrotic form (Christ-Siemens-Touriane syndrome) and hidrotic form (Clouston syndrome). [1] X-Linked HED is the most frequent form, first described by Thurnam in 1848 and later in 19 th century by Darwin. [5] It is caused by genetic defects in ectodysplasin signal transduction pathways located at Xq12-13. [1] Epithelial cells in developing tooth, hair follicle, and eccrine sweat gland utilize this pathway during morphogenesis and defects in pathway results in aplasia, hypoplasia, or dysplasia of these structures. The diagnosis is made with identification of hypotrichosis, hypohidrosis (rarely anhidrosis), and teeth abnormalities. Ability to sweat is severely compromised and most affected males have heat intolerance. Periorbital wrinkling and hyperpigmentation are typical and often present, unappreciated at birth. [1] Dental defects represent a core clinical feature of X-Linked HEDs and mainly include anodontia, hypodontia, peg-shaped and small teeth. [6] Characteristic facies is seen with frontal bossing, depressed midface with a saddle nose, and full everted lips. Otolaryngologic manifestations include thick nasal secretions, sinusitis, recurrent upper respiratory tract infections, and pneumonias. [1] Histopathology shows flattened epidermis, reduced number of sebaceous glands and hair follicles. Eccrine glands are absent or incompletely developed. [7] Diagnosis is usually confirmed by characteristic clinical features and histopathology. Family history, examination of parents, and molecular testing may be useful. Treatment involves symptomatic management and include maintenance of cool and ambient temperature which is important to prevent hyperthermia. [1] Dental treatment is necessary and sometimes dentures are required for cosmetic correction. [8] Management of other complications including otolaryngologic complications, asthma, and recurrent infections should be individualized according to the need of patient.
| References | | |
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| 7. | Bernett JL Jr, Albert YC. Congenital Diseases (Genodermatoses). In: Elder DE, Elenitsas R, Johnson BL, Murphy GF, editors. Lever's Histopathology of the skin. 10 th ed. Philadelphia: Lippincott Williams and Williams; 2009. p. 133-67.
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[Figure 1], [Figure 2]
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