Growth Characteristics of Children With Ectodermal Dysplasia Syndromes

Abstract

ABSTRACT.Objective. Clinical observations suggested that growth abnormalities may be present in children with ectodermal dysplasia (ED) syndromes. This study characterizes the longitudinal pattern of growth in a cohort of children with the ED syndromes. We hypothesized that (1) linear and ponderal growth abnormalities are present in children with ED from infancy through adolescence, and (2) linear and ponderal growth abnormalities differ among the clinical variants of these disorders.Methods. We studied 138 children who had ED and were registered with the National Foundation for Ectodermal Dysplasias, 74% of whom had clinical features consistent with the hypohidrotic EDs (HEDs). Height (or length) and weight measurements were obtained by standardized techniques and from review of available medical records. We converted these measurements to weight-for-height (children younger than 5 years and <103 cm in length) or BMI (children >2 years old). Height, weight, weight-for-height, and BMI were converted to age-and gender-specific z scores. We applied linear regression, 1-sample t tests, and analysis of variance to detect linear and ponderal growth abnormalities in children with ED compared with a reference population.Results. Mean weight-for-age, weight-for-height, and BMI-for-age z scores but not height-for-age z score, were significantly lower in children with the ED syndromes than in the reference population. Mean weight-for-age and weight-for-height z scores but not BMI-for-age or height-for-age z scores increased significantly with increasing age. The mean height-for-age z score of children with the ED syndromes other than the HEDs was significantly lower than that of children with the HEDs.Conclusions. Growth abnormalities, measured as weight deficits, were present at an early age in children with the ED syndromes and persisted through adolescence. Height deficits were seen only in children with ED syndromes other than HEDs. Clinicians should evaluate carefully children with ED syndromes for growth abnormalities. Pediatrics 2005;116:e229-e234. URL: www. pediatrics.org/cgi

Differenzialdiagnose des atopischen Ekzems in der Kindheit

“…Diagnoseweisend sind hier weitere Symptome wie eine ausgeprägte Hypodontie der Milchzähne und des bleibenden Gebisses mit konisch zugespitzten verbleibenden Zähnen, Mittelgesichtsdysplasie mit eingesunkener Nasenpartie und hyperpigmentiertem Periorbitalbereich. Über Gedeihstörungen berichtet eine neuere Studie, die zeigen konnte, dass betroffene Kinder häufig ein niedrigeres Gewicht im Vergleich zu gesunden Kindern ihres Alters aufweisen[27].Aufgrund der deutlich verminderten Talgdrüsenanzahl entsteht eine Xerosis cutis am gesamten Integument, die die Ausbildung eines Ekzems fördert. Da die Patienten auch eine Assoziation zum Asthma aufweisen, ist die hypohidrotische ektodermale Dysplasie als Differenzialdiagnose zum AE insbesondere bei männlichen Kindern mit auffälliger Fazies, niedrigem Gewicht, Hypotrichosis und vermindertem Schwitzen zu beachten.…”

Oligodontia Management in Patients with Ectodermal Dysplasia Syndrome

“…Initial management of such conditions is required in order to impress the self-steam of such patients while facilitating the correct mastication and pronunciation [7]. Characteristically thin and underdeveloped residual ridge is presented in these groups which are covered by a thin layer of mucosa topped by a cord of movable connective tissue [5]. Most common dental treatment for ED is use of a removable denture [10].…”

“…There are two different forms of the disease: the 1st one, Clouston syndrome, has autosomal inheritance. The second one, ChristSiemens Syndrome (Hypohidrotic form), usually an X-linked recessive which is only expressed in males [5]. Spontaneous gene mutation can also result in this condition [6].…”

Hypohidrotic Ectodermal Dysplasia Associated with Glucose-6-Phosphate Dehydrogenase Deficiency

“…Mutations in the gene encoding the ligand ectodysplasin A (EDA) underlie classic, X-linked recessive HED, whereas mutations in genes encoding the EDA receptor and the adaptor protein associated with the EDA receptor's death domain result in autosomal dominant and autosomal recessive forms of HED6. Treatment of HED is supportive and includes protection from heat exposure, early denture fittings, skin, hair, ear, nose, and nail care, and genetic counseling for family planning7.…”