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Year : 2018  |  Volume : 19  |  Issue : 1  |  Page : 84-86

Autosomal recessive anhidrotic ectodermal dysplasia: A rare disease

Department of Dermatology,STDs and Leprosy, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India

Date of Web Publication28-Dec-2017

Correspondence Address:
Tasleem Arif
Al-Rahman Apartment, Ground Floor, Behind Zakaria Market, New Sir Syed Nagar, Civil Lines, Aligarh, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_116_16

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How to cite this article:
Arif T, Adil M, Amin SS, Dorjay K. Autosomal recessive anhidrotic ectodermal dysplasia: A rare disease. Indian J Paediatr Dermatol 2018;19:84-6

How to cite this URL:
Arif T, Adil M, Amin SS, Dorjay K. Autosomal recessive anhidrotic ectodermal dysplasia: A rare disease. Indian J Paediatr Dermatol [serial online] 2018 [cited 2020 Aug 9];19:84-6. Available from: http://www.ijpd.in/text.asp?2018/19/1/84/206055


Ectodermal dysplasia (ED) is a group of rare hereditary diseases characterized by primary defect in the development of two or more ectodermal tissues and can be classified as anhidrotic/hypohidrotic and hidrotic, based on the presence or absence of sweating.[1] Anhidrotic ED presents with the triad of hypohidrosis, adontia, and atrichia.[2] Anhidrotic ED is usually inherited in X-linked recessive form, with rare reports of autosomal recessive transmission. We here describe a rare case of anhidrotic ED with probable autosomal recessive mode of inheritance.

An 18-year-old female presented to the dermatology outpatient department with complaints of decreased hair on the scalp since birth. The patient also complained of intolerance to heat, lack of sweating, and abnormal teeth. Her antenatal and birth history was uneventful, and developmental milestones were not delayed. Her parents were first-degree cousins and were apparently healthy. She had three sisters and one brother. One sister, with similar complaints, died due to some unknown illness at the age of 3 years. On examination, the patient had a distinct facies with broad forehead with frontal prominence, saddle nose, high hair line, absence of eyebrows and eyelashes, and low set ears; thick, everted upper lip and wrinkling in the periorbital area, giving a geriatric look [Figure 1]. Scalp hair was sparse and light colored, and body hair was absent. Her axillary and pubic hair was sparse [Figure 2]. The skin was dry, warm, and scaly. Nails were normal. Oral examination showed only a few teeth and they were conical and ill formed. The palate was flat and low arched. Systemic examination was unremarkable with normal intelligence. Serum biochemistry showed no abnormality. Histopathological examination of the skin showed absent skin appendages. Only the mother and two of the siblings could be examined and were found to be normal. Genetic analysis could not be done due to economic constraints. Based on the clinical workup, histopathology, history of consanguinity in the parents, and a history of similar disease in another female sibling, a diagnosis of anhidrotic ED with probable autosomal recessive transmission was made.
Figure 1: Distinct facial appearance with loss of eyebrows and eyelashes, broad forehead, saddle nose, high anterior hairline, periorbital wrinkling (a) hypodontia and conical teeth (b) low set ears (c)

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Figure 2: Lightly pigmented and sparse hair of scalp (a) sparse axillary hair (b)

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ED was first described by Thurnam in 1848 and this term was coined in 1929.[3] This entity includes around 200 distinct, nonprogressive, genetic syndromes with ectodermal abnormalities. These are classified on the basis of a classification system given by Friere Maria and Pinheiro with successive numbers for involvement of hair, teeth, nail, and sweat glands. Our patient falls in the 1-2-4 subgroup according to this classification. Anhidrotic ED is extremely rare and occurs in 1 out of 100,000 births. Most of these are cases of X-linked recessive inheritance.[2] Autosomal recessive and autosomal dominant modes of transmission are uncommon.[1],[4],[5],[6],[7] X-linked ED presents usually in males, with full involvement in females seen only in autosomally transmitted disease.[4] The clinical features of the two types of hypohidrotic ED include hypohidrosis, hypotrichosis, and hypodontia and other features such as depressed nasal bridge, periorbital hyperpigmentation, and underdevelopment of alveolar ridges.[3] Our patient had all these clinical features. Nail dystrophies are seen in half of all cases but develop later in life. Patients are at a risk of hyperthermia and chest and gastrointestinal infections due to absence of sweat glands and mucous glands, respectively.[4] Diagnosis is made on the basis of the clinical features and histopathological findings of absent sweat glands. Other methods include sweat pore count and starch iodine test, which determine the extent of disease involvement.[8] Management of the disease includes management of hyperthermia, treatment of infections, and use of dentures and wigs for cosmesis.

The history of consanguineous marriage in the parents and a positive family history in another female sibling, classic clinical manifestations, and histopathology showing absence of sweat glands suggest the autosomal recessive transmission in our case. Autosomal recessive anhidrotic ED is a very rare disease. This case is presented due to the classic manifestations of this rare disease.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Inamadar CA. Anhidrotic ectodermal dysplasia: Autosomal recessive form. Indian J Dermatol Venereol Leprol 1994;60:163-4.  Back to cited text no. 1
  [Full text]  
Mortier K, Wackens G. Ectodermal Dysplasia Syndrome. Orphanet Encyclopedia; September, 2004. Available from: http://www.orpha.net/data/patho/GB/uk-ectodermal-dysplasia-anhidrotic.pdf. [Last cited on 2016 Sep 22].  Back to cited text no. 2
Passi D, Mehta G, Vihwakerma K, Singh P. Ectodermal dysplasia: Case report and literature review. Eur J Dent Ther Res 2013;3:170-3.  Back to cited text no. 3
Ghosh S, Ghosh E, Dayal S. Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity. Indian J Dermatol 2014;59:422.  Back to cited text no. 4
[PUBMED]  [Full text]  
Kabbaj K, Baala L, Chhoul H, Sefiani A. Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family. J Med Genet 1998;35:1043-4.  Back to cited text no. 5
Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS. Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. Am J Med Genet 1997;72:462-7.  Back to cited text no. 6
Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM,et al. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet 1997;61:94-100.  Back to cited text no. 7
Ventruto V. A simplified method for observing and recording dermatoglyphic patterns, including counting sweat pores. Clin Genet 1986;30:525-7.  Back to cited text no. 8


  [Figure 1], [Figure 2]

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