|Year : 2015 | Volume
| Issue : 1 | Page : 46-48
Sunil Gothwal1, Swati Nayan2
1 Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110608, India
2 Department of Obstetrics and Gynecology, SMS Medical College, Jaipur 302016, Rajasthan, India
|Date of Web Publication||30-Sep-2015|
All India Institute of Medical Sciences, New Delhi 110608
Source of Support: Nil, Conflict of Interest: None of the authors have a conflict of interest to declare
Ectodermal dysplasia (ED) results from abnormalities of the ectodermal structures such as hairs, teeth, nails, sweat glands, craniofacial structures, digits and other parts of the body. More than 200 different syndromes have been identified. It inherits as autosomal dominant or recessive or fresh mutations. Diagnosis is usually clinical with confirmation done by genetic studies. We report a newborn female baby delivered with sparse hair, poor skin pigmentation, dysmorphism, and absence of sweating, clinically diagnosed as ED. Her elder 3-year-old male sibling was a diagnosed case of ED, alive and healthy. Early diagnosis, multidisciplinary approach, and precautions during summer may be helpful in minimizing dehydration episodes and decrease in morbidity and mortality. Antenatal diagnosis is helpful in limiting the birth with ED.
Keywords: Ectodermal dysplasia, hair and teeth deformities, skin
|How to cite this article:|
Gothwal S, Nayan S. Ectodermal dysplasia. Digit Med 2015;1:46-8
| Introduction|| |
Ectodermal dysplasia (ED) is a heterogeneous group of rare, inherited disorders of ectodermal tissues and occasionally of mesodermal tissues. The term ED was coined in 1929 by Weech. The incidence of ED was approximately 1 per 100,000 live births. It carries a high mortality rate of 28% in males up to 3 years of age. ED is characterized by the triad of signs comprising of sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat due to lack of sweat glands (anhidrosis or hypohidrosis).
| Case Report|| |
A female newborn was delivered to a gravida 2 mother at full term, by lower segment cesarean section. Mother was a booked case and received antenatal care best possible. Baby cried immediately after birth and shifted to mother side for breast feeding. Baby had large forehead, flat nasal bridge, absence of eye lashes and eye brows, thin and hypo-pigmented skin, abnormality of nails, thin and sparse hairs, absent tears, and sweating [Figure 1]. Baby developed an episode of hyperthermia on day 2 of life as the environmental temperature was high, however, there was no dehydration. Baby was managed for hyperthermia. Her elder 3-year-old male sibling was a diagnosed case of an anhidrotic and hypohidrotic ED. He had 2–3 episodes of hyperthermia during summers every year initially. Since the parents were more careful, these episodes came down. Genetic studies sent for this child was confirmatory for ED. Parents were reinforced for the same to care for the newborn baby. We followed up the child up to 6 months; she had deformed lower incisors and had normal development. Parents were counseled regarding the disease and preventive care needed.
|Figure 1: Baby had large forehead, absence of eye lashes and eye brows, thin and hypo-pigmented skin, abnormality of nails, thin and sparse hairs, absent tears, and sweating|
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| Discussion|| |
ED is a rare congenital hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the fetus. It represents a large and complex group of diseases comprising more than 200 different clinical conditions. Controversy exists over which syndromes do or do not belong in the classification of the clinical features that characterize ED. In 1838, Wedderburn documented ED in a letter to Charles Darwin. Nicolle and Hallipre in 1895first described hydrotic ED. Clouston in 1939 and Lowry et al. in 1966 described ED as a genetic entity.
There are two major types of ED depending on the number and functionality of the sweat glands: Hypohydrotic and hydrotic. Hypohydrotic or anhydrotic type is the most common ED (80%) and is often inherited as an X-linked disorder. It is characterized by the classical triad of hypodontia, hypohidrosis, and hypotrichosis with characteristic dysmorphic facial features. In this type, the sweat glands are either absent or significantly reduced in number. It is also termed as Christ–Siemens–Tauraine syndrome. The hydrotic form usually has normal sweat glands and the condition is inherited as autosomal dominant. This form also affects teeth, nails, and hair. But the hereditary patterns and nail and sweat gland manifestations tend to differ from hypohydrotic type. It is termed as Clouston's syndrome.,
ED can be transmitted as an X-linked recessive trait, in which gene is carried by the females and manifested in males  Hence men are more frequently and severely affected. The heterozygote usually show minor defects. In addition, nail dystrophy and palmoplantar hyperkeratosis are usually present. The sensorineural and adrenal tissues are also affected at various degrees.
ED manifests with numerous clinical features, both general and oral. The characteristic signs of ED include sparse hair, anodontia or hypodontia, and inability to sweat. Cases may be diagnosed on the basis of these features. Partial anodontia is most common than complete anodontia. Both deciduous and permanent dentition may be affected. Anodontia was the most important problem that parents are concerned. The anterior teeth were found to be smaller in size and had conical peg-like shape. Additional features, such as dry skin, scaly skin, frontal bossing, saddle nose, hypertelorism, nail dystrophy, hypoplastic maxilla, protuberant lips, palmoplantar keratosis, wrinkled facial skin, high arched palate, thin alveolar bone, taurodontism, cleft lip, and cleft palate, were observed in most of the cases.
Differential diagnosis included alopecia areata, aplasia cutis congenita, focal dermal hypoplasia syndrome, incontinentia pigmenti, Naegeli–Franceschetti–Jadassohn syndrome, and pachyonychia congenita.
Treatment depends on the clinical problems. Babies with anhidrosis/hypohidrosis should be advised air conditioning at home, school, and work, frequent consumption of cool liquids, and wear cool clothing to maintain hydration and temperature. Babies should have early dental evaluation, intervention for dental defects, need to have a good dental hygiene, orthodontic treatment for cosmetic reasons, and to ensure adequate nutritional intake. Xerosis or eczematous dermatitis should be treated with topical emollients. Patients with severe alopecia can wear wigs to improve their appearance. Use of topical minoxidil with or without a topical tretinoin has been shown to improve hair growth in a small number of patients. Scalp erosions should be treated with topical and systemic antibiotics. Use of weekly dilute bleach baths or acetic acid soaks to minimize bacterial colonization of the scalp. Artificial tears should be used to prevent the corneal damage in patients with poor lacrimation. Nasal mucosa should be cared with saline sprays and application of petrolatum. Babies having immunodeficiency with ED should be examined for infection and treated with therapeutic and/or prophylactic antibiotics. Allogeneic stem cell transplantation has been performed in a small number of patients with autosomal dominant ED with immunodeficiency resulted in poor engraftment and more posttransplant complications.
ED patients undergo severe social problems, poor psychological and physiological development. A multidisciplinary team comprising of pediatricians, dermatologists, psychiatrists, stomatologists, orthodontists, prosthodontists, and pedodontists should have responsibility to rehabilitate these patients.
Innovations, such as genotyping, gene mapping, single nucleotide polymorphisms, interference RNA treatments, bio-imaging, tissue engineering, and related biomimetic approaches to design and fabricate biomaterials, offer enormous promise for the future of ED. ED per se has not only a poor prognosis, but it also needs constant care for temperature and other problems associated with this condition. Genetic counseling is recommended for families who have family history of ED. Antenatal diagnosis of ED may be helpful to limit the birth of affected babies.
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