|LETTER TO EDITOR
|Year : 2015 | Volume
| Issue : 4 | Page : 267-268
Hypohidrotic ectodermal dysplasia presenting with atrophic rhinitis and nasal myiasis in a child
AS Bagul, AK Niswade, Pawan Kalamdani, MS Supare
Department of Pediatrics, Government Medical College and Hospital, Nagpur, Maharashtra, India
|Date of Web Publication||24-Sep-2015|
A S Bagul
Department of Pediatrics, Government Medical College and Hospital, Nagpur - 440 003, Maharashtra
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Bagul A S, Niswade A K, Kalamdani P, Supare M S. Hypohidrotic ectodermal dysplasia presenting with atrophic rhinitis and nasal myiasis in a child. Indian J Paediatr Dermatol 2015;16:267-8
|How to cite this URL:|
Bagul A S, Niswade A K, Kalamdani P, Supare M S. Hypohidrotic ectodermal dysplasia presenting with atrophic rhinitis and nasal myiasis in a child. Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Feb 24];16:267-8. Available from: http://www.ijpd.in/text.asp?2015/16/4/267/165670
Ectodermal dysplasia (ED) is a hereditary, heterogeneous, nonprogressive group of disorders characterized by abnormal development of two or more tissues derived from ectoderm such as skin, hair, nails, eccrine glands, and teeth.  Charles Darwin first documented the ED in 1840s. The incidence of EDs is estimated to be 7 in 10,000 live births. Of 150 described syndromes, most common syndromes are hypohidrotic or anhidrotic ED and hidrotic ED.  Atrophic Rhinitis is associated with ED  and presents at an early age.
A 7-year-old male child of normal height and intelligence presented with scanty hairs all over the body since birth, abnormal teeth, repeated epistaxis, foul-smelling nasal discharge, and insect crawling sensations in the nose. There was a history of heat intolerance. History of repeated infections was absent. There was no history of similar complaints in the family. On examination, features of hypohidrotic ED like sparse blond hairs all over the body, smooth skin, and abnormal dentition (hypodontia) were present. Nails were normal [Figure 1]. Typical facial features such as depressed nasal bridge, frontal bossing, protuberant lips, and prominent eyebrows were present [Figure 2]. On anterior rhinoscopy, we found wide, roomy nasal cavity with crusts and maggots. Diagnosis of ED was confirmed by skin biopsy and showed thin epidermis, the absence of sweat glands, hair follicle, and sebaceous gland [Figure 3]. Parents were advised to take precautions during hot environment and vigorous physical activity. Removable prosthodontics is advised. Regular warm alkaline nasal washing was advised for atrophic rhinitis. Liquid paraffin is instilled in the nose, and endoscopic removal of maggots was done.
|Figure 3: Histopathology slide of skin showing thin epidermis and absence of sweat glands, hair follicle, and sebaceous gland (H and E, ×100)|
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Hypohidrotic or anhidrotic ED, also known as Christ-Siemens-Touraine syndrome, is the most common phenotype of ED, inherited as an X-linked recessive pattern and rarely inherited as autosomal recessive or autosomal dominant pattern. , However, the phenotype is same in all and clinically we cannot differentiate between them. Hidrotic ED, also known as Clouston's syndrome, is inherited as an autosomal dominant pattern.
Hypohidrotic ED is a congenital syndrome characterized by the sparse hair, hypodontia, and reduced sweating.  Hypohidrotic ED is caused by mutations in any of the three Ectodysplasin pathway genes: Ectodysplasin (EDA), EDAR, and EDARADD. Newer classifications were described by Priolo and Lagana in 2001 and the Lamartine in 2003 using molecular knowledge. However, this molecular classification is not useful clinically.  Depending on clinical findings, EDs divided into two groups, that is hypohidrotic or anhidrotic ED and hidrotic ED.  In hidrotic ED, sweat glands and teeth are normal, and nails are frequently affected. 
Similar to the previous study,  we also found atrophic rhinitis and nasal myiasis. Respiratory system involvement in ED is attributed to the paucity of mucous glands, and subsequent repeated infections and atrophic rhinitis has an inherited association with ED.  Atrophic rhinitis with foul-smelling discharge is a risk factor for nasal myiasis in the immune-competent patient.
We could not do gene analysis in our patient. Along with clinical diagnosis, molecular diagnosis is also important, as it will be helpful in planning prevention by antenatal diagnosis.
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[Figure 1], [Figure 2], [Figure 3]