The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review

Abstract

The objective of this study was to review the published literature on X‐linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis. A systematic search of English‐language articles was conducted in May 2019 to identify publications with information on any of the three features of XLHED. We excluded studies with five or fewer participants, that did not specify X‐linked inheritance or an EDA mutation, and discussed only management of features. The weighted means for total missing teeth, location of missing teeth, prevalence of reduced and absent sweating ability, and sparse or absent hair were analyzed across all studies. Additional findings for hypodontia, hypohidrosis, and hypotrichosis were summarized qualitatively. Twenty publications (18 studies) were accepted. Reported findings for males tended to be more informative than for carrier females. The weighted mean for missing teeth for affected males was 22.4 (range: 10–28) and carrier females was 3.4 (range: 0–22). The most common conserved teeth for males were the canines. The most common missing teeth for females were the maxillary lateral incisors. The weighted mean prevalence of reduced or absent sweating ability was 95.7% for males and 71.6% for females. The weighted mean prevalence for hypotrichosis was 88.1% for males and 61.6% for females. This systematic review provides insight into the prevalence, characteristics, and variability of the three classic features of XLHED. These findings provide detailed natural history information for families with XLHED as well as key characteristics that can aid in diagnosis.

Displasia ectodérmica hipohidrótica ligada al cromosoma X de novo por variante recurrente en un paciente mexicano

“…Este fenómeno fue descrito incluso antes de la identificación de EDA, con una tasa de mutación en la espermatogénesis de 3.5:1 con respecto a la ovogénesis 27 . En los estudios realizados en mujeres de familias con DEHLX se describe una frecuencia alta de mujeres heterocigotas, quienes en su mayoría presentan la sintomatología 4,5,25,[28][29][30] .…”

Ectodermal dysplasia, an odontological point of view

“…The number of teeth can range from more than a dozen, through several, or the lack of all permanent teeth and even, in some cases the lack of both dentitions is present [4,31,35,36] . Studies have found that the most frequent missing teeth are the upper lateral incisors, upper and lower premolars [37] . The oral manifestations can occur in the shape of the teeth, size, the number of teeth present and can even affect the normal development of the alveolar ridge, making it a challenge when planning treatment, because the bone can compromise the results.…”

COVID ‐19 and ectodermal dysplasias. Recommendations are necessary

“…of rare congenital conditions affecting the normal development and/or homeostasis of two or more ectodermal derivatives including skin, teeth, hair, nails, and eccrine glands. [1][2][3] Hypohidrotic ED is estimated to affect at least 1/5000 to 10 000 newborns. 1 X-linked hypohidrotic ED (XLHED; OMIM 305100), 3 is the most common subtype of EDs, with an incidence of 1/50 000 to 100 000 males.…”

“…1 X-linked hypohidrotic ED (XLHED; OMIM 305100), 3 is the most common subtype of EDs, with an incidence of 1/50 000 to 100 000 males. [1][2][3] XLHED is characterized by a clinical triad of hypotrichosis, hypo-, oligo-or anodontia, and hypo-or anhidrosis. 2,3 XLHED is associated with the EDA gene located at (Xq12-q13.1), leading to loss or dysfunction of the signaling protein EDA, 3 a critical signaling unit involved in the interaction between the ectoderm and the mesoderm.…”

“…2,3 XLHED is associated with the EDA gene located at (Xq12-q13.1), leading to loss or dysfunction of the signaling protein EDA, 3 a critical signaling unit involved in the interaction between the ectoderm and the mesoderm. [1][2][3] The dominant (OMIM 129490) and recessive (OMIM 614941) subtypes involve the EDAR (2q13), and EDARADD (1q42.3) genes, respectively. Moreover, XLHED with immunodeficiency (XL-EDA-ID, OMIM 300291) is a primary immunodeficiency disease.…”