2008 International Conference on Ectodermal Dysplasias Classification: Conference report

Abstract

There are many ways to classify ectodermal dysplasia syndromes. Clinicians in practice use a list of syndromes from which to choose a potential diagnosis, paging through a volume, such as Freire-Maia and Pinheiro's corpus, matching their patient's findings to listed syndromes. Medical researchers may want a list of syndromes that share one (monothetic system) or several (polythetic system) traits in order to focus research on a narrowly defined group. Special interest groups may want a list from which they can choose constituencies, and insurance companies and government agencies may want a list to determine for whom to provide (or deny) health care coverage. Furthermore, various molecular biologists are now promoting classification systems based on gene mutation (e.g. TP63 associated syndromes) or common molecular pathways. The challenge will be to balance comprehensiveness within the classification with usability and accessibility so that the benefits truly serve the needs of researchers, health care providers and ultimately the individuals and families directly affected by ectodermal dysplasias. It is also recognized that a new classification approach is an ongoing process and will require periodical reviews or updates. Whatever scheme is developed, however, will have far-reaching application for other groups of disorders for which classification is complicated by the number of interested parties and advances in diagnostic acumen. Consensus among interested parties is necessary for optimizing communication among the diverse groups whether it be for equitable distribution of funds, correctness of diagnosis and treatment, or focusing research efforts.

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

“…62,65,135 Importantly, hypohidrosisea common symptom in ichthyoses, especially ARCI 136 erepresents one main criterion for the heterogeneous group of the ectodermal dysplasia. 137,138 Generalized erythroderma with scaling, and even collodion membranes, have been described in single cases of hypohidrotic ectodermal dysplasia. 139,140 One important differential diagnosis of HI (or severe collodion babies) is lethal restrictive dermopathy, [141][142][143] which is associated with intrauterine growth retardation, congenital contractures, tight skin, and ectropion, but does not develop hyperkeratosis and scaling.…”

Hypohidrotic ectodermal dysplasia: clinical and molecular review

“…Ectodermal dysplasia (EDs) is a term used to describe a large group of clinically and congenitally heterogeneous disorders characterized by developmental failure in two or more ectodermal structures involving alterations in hair, teeth, nails, or sweat glands. This group of disorders decreases the quality of life of patients …”

“…This group of disorders decreases the quality of life of patients. 1,2 There are other ectodermal structures that could be involved in ED, such as mammary glands, thyroid glands, thymus, anterior pituitary, adrenal medulla, central nervous system, melanocytes, external ear, lacrimal gland and duct, conjunctiva, cornea, and Meibomian glands. 1 More than 200 types of ED have been described, 3,4 but the most common phenotype is the anhidrotic or hypohidrotic ectodermal dysplasia (HED/EDA 1) (OMIM 305100); this disorder is an X-linked hypohidrotic form of ED, which has a frequency of one per 17,000 live births in the general population.…”

A systematic review: the prevelance of partial edentulourism in patients with ectodermal dysplasia

“…Ectodermal dysplasia (ED) is most commonly known to be a group of inherited disorders that are characterized with the presence of developmental abnormalities in either two or more of the four existing ectodermal structures; most commonly the teeth, hair, nails, and sweat glands-including other ectodermal structures [1,2] . Out of all these ectodermal structures, the human dentition is the most significant criteria taken into consideration for diagnosing ED patients.…”