Classifying functional manifestations of ectodermal dysplasias

Abstract

Ectodermal dysplasias (ED) encompass more than 200 conditions involving some combination of disorders of hair, nails, teeth, and sweat glands. The incidence of ED is relatively rare affecting about 7 of 10,000 births [Itin and Fistarol (2004)]. Individuals manifesting ED present with a wide range of disorders involving hair, nails, teeth, and sweat glands and in many cases other characteristics as well. The complex nature of the disorder has presented challenges for clinical practice and required the involvement of multiple approaches and disciplines. It has also resulted in significant research initiatives on cause and symptomatology. A significant challenge has been the search for comprehensive documentation of the varied and complex manifestations associated with ED. Existing classification systems of ED have focused on physiological and structural dimensions. Classification approaches with a broader focus including characteristics of functioning in persons with ED could facilitate clinical work and research initiatives. In this context, the potential utility of available classifications that address functioning and disability would be appropriate to consider in the search for a consensus classification of ED. To that end, the purpose of this article is to (a) review the status of classification of ED, (b) provide a brief overview of the International Classification of Functioning, Disability and Health-Children and Youth, ICF-CY [World Health Organization (2007); International Classification of Functioning, Disability and Health-Children and Youth. Geneva: WHO.], and (c) identify possible contributions of the ICF-CY to classification of ED's.

P63‐related disorders: Dermatological characteristics in 22 patients

“…The absence of cleft lip/palate represents the main differences with EEC syndrome . The absence of freckling has been reported in ADULT patients . Moreover, exfoliative digit dermatitis, lentigines and nails dystrophy are reported without any syndromic specificity in our cohort.…”

“…[21][22][23][24] The absence of freckling has been reported in ADULT patients. [2] Moreover, exfoliative digit dermatitis, lentigines and nails dystrophy are reported without any syndromic specificity in our cohort. Therefore, ADULT syndrome may cor-…”

“…Ectodermal dysplasias (ED) are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails and certain glands …”

“…Heterozygous mutations in TP63 are responsible of several rare autosomal dominant disorders in which five are ED: ankyloblepharon‐ectodermal dysplasia‐clefting (AEC, MIM 106260), ectrodactyly‐ectodermal dysplasia‐clefting (EEC, MIM 604292), acro‐dermato‐ungual‐lacrimal‐tooth (ADULT, MIM 103285), Rapp‐Hodgkin syndrome (RHS, MIM 129400) and limb‐mammary syndrome (LMS, MIM 603543). Two non‐syndromic conditions are known: split hand/split foot malformation (SHFM4, MIM 605 289) and non‐syndromic cleft‐lip 8, which is related to RHS . One case of lacrimo‐auriculo‐dento‐digital syndrome (LADD, MIM 149730) was associated with a TP63 mutation .…”

Prosthodontic Management of Children with Ectodermal Dysplasia: Review of Literature

“…The hidrotic form, inherited as an autosomal trait, affects teeth, hair and nails but usually spares the sweat glands and was first described by Clouston in 1929 [9]. Whereas the hypohidrotic form (Christ-Siemens-Touraine Syndrome) is most common type seems to be an X-linked recessive trait, with an incidence of this syndrome estimated to be 1 to 7 per 10,000 live births [10,11]. Hypodontia, hypotrichosis and hypohidrosis which form a triad are the characteristic feature of the hypohidrotic form [12,13].…”