|Year : 1994 | Volume
| Issue : 3 | Page : 163-164
Andhidrotic ectodermal dysplasia-autosomal recessive form
C Arun Inamadar
C Arun Inamadar
Source of Support: None, Conflict of Interest: None
Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.
Keywords: Anhidrotic ectodermal dysplasia, Autosomal recessive
|How to cite this article:|
Inamadar C A. Andhidrotic ectodermal dysplasia-autosomal recessive form. Indian J Dermatol Venereol Leprol 1994;60:163-4
|How to cite this URL:|
Inamadar C A. Andhidrotic ectodermal dysplasia-autosomal recessive form. Indian J Dermatol Venereol Leprol [serial online] 1994 [cited 2020 Sep 19];60:163-4. Available from: http://www.ijdvl.com/text.asp?1994/60/3/163/4028
| Introduction|| |
Anhidrotic ectodermal dysplasia (AED) is a rare genetic disorder characterized by faulty development of ectodermal structures, resulting most notably in anhidrosis, hypotrichosis and abnormal dentition.  This condition has been thought to be an X-linked recessive disorder affecting predominantly the males. 
In the present communication AED as autosomal recessive form is reported, which is very rare occurrence.
| Case Report|| |
Two sisters born to consanguineously married parents aged 8 years and 5 years were referred to skin OPD from paediatric department for repeated history of intolerance to heat since their early childhood. Cutaneous examination of both sisters revealed - sparse, thin, hypopigmented and short scalp hair with paucity of eyebrows and eyelashes. They had square faces with prominent frontal bossing, prominent supraorbital ridges, pointed chin, flattened nasal bridge and thick everted lips. Ears were lowset and anteriorly displaced. Periorbital skin was wrinkled with hyperpigmentation. Skin in general was thin, dry, pale and finely wrinkled. The incisors and canine teeth were peg shaped and widely spaced [Figure - 1]. Palm, sole and nails were normal. External genitalia, nipples and mental development were normal. Other systemic examination including CNS were normal. Other siblings were normal.
Routine urine, haematological parameters, skiagram of skull and chest were within normal limits. Skin biopsy showed normal epidermis with no cutaneous appendages. A diagnosis of AED was made.
| Comments|| |
A number of cases of anhidrotic ectodermal dysplasia (AED) have been reported in which autosomal recessive (AR) inheritance of the syndrome seems probable. , There are as yet no known clinical features by which this form of the disease can be differentiated from the sex linked recessive form, except that the complete syndrome occurs in both sexes .  Sawhney, et al  from India reported 2 sisters with AED, which favours an AR inheritance, though no history of consanguinity was available. Infact, consanguinity is one of the chief historical markers of recessive inheritance  as in the present case. Their explanation is that - when two or more females in one family were affected by the disease, it was thought that the disease is transmitted also as an AR disorders, since the chance of a new dominant mutation occurring twice in one generation of one family is negligible. 
It has been claimed that in autosomal recessive form of AED sweat glands are reduced in number but are not absent.  For want of facilities study of sweat pores was not done in the present case, hence the above view neither be contradicted nor supplemented, though biopsy finding in the present case and case reported by Sawhney et al sub showed absence of sweat glands.
This report of two sisters with complete syndrome of AED favours AR inheritance with history of consanguinity available.
| References|| |
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|3.||Gorlin R J, Old T. Anderson V E. Hypohidrotic ectodermal dysplsia in females: A clinical analysis and argument for genetic heterogenecity. Z Kinderheilkd 1970; 108: 1-11. |
|4.||Passage E, Nuzum C T, Schubert W K. Anhidrotic ectodermal dysplsia as autosomal recessive trait in an inbreed kindred. Hum Genet 1966; 3: 181-5. |
|5.||Sawhney M P S, Gidwani G H, Nagendra K, et al. Anhidrotic ectodermal dysplasia. Ind J Dermatol Venereol Leprol 1986; 52 : 234-5. |
|6.||Pai G S, Kulkarni M L, Shetty K R. Genodermatoses. In : IADVL Text book and atlas of Dermatology (Valia R G, ed), 1st edn, Bombay : Bhalani publishing house, 1994; 74. |
|7.||Shattuck W, Hartwell J R, Pickrell K, et al. Congenital anhidrotic ectodermal dysplasia; Report of two cases. Clin paed 1965; 4: 181-5. |
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[Figure - 1]