Hypohydrotic Ectodermal Dysplasia: A Rare Case Series
Journal Title: Journal Of Pediatric Critical Care - Year 2018, Vol 5, Issue 1
Abstract
Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The sweating is greatly deficient, leading to episodes of hyperthermia. It is inherited as, X-linked form (caused by mutations in EDA gene), autosomal recessive and autosomal dominant form (caused by mutations in EDAR and EDARADD). We are describing three cases of HED and discussing their diagnostic and therapeutic approach.
Authors and Affiliations
Manisha Goyal, Ashok Gupta, Priyanshu Mathur, Manish Sharma
Keywords
Related Articles
- EP ID EP336776
- DOI 10.21304/2018.0501.00362
- Views 64
- Downloads 0
Decisions And Outcomes After Chest X Ray In Pediatric Intensive Care Unit
.
Clinical profile and outcome of children with meningitis- a prospective observational study in tertiary health care centre in Chennai
To study the clinical profi le of children admitted with meningitis
Energy Balance In Children With Severe Sepsis Using Indirect Calorimetry : A Prospective Cohort Study
.
Leptospirosis
Leptospirosis is a zoonotic infection with ubiquitous distribution caused by spirochete leptospira and humans are incidental hosts. Leptospirosis is mostly reported during rainy season when there is freshwater flooding a...
Perioperative Management of Total Anomalous Pulmonary Venous Drainage
Total anomalous pulmonary venous drainage (TAPVD) is a congenital heart disease involving abnormal drainage of all the four pulmonary veins in to systemic venous drainage or right atrium. TAPVD can occur in isolation or...