Acute hemorrhagic edema of infancy (AHEI): Alarming cutaneous presentation of a benign and self-limited disease.

Acute hemorrhagic edema of infancy (AHEI) is a cutaneous leukocytoclastic vasculitis. We report on an 11-month-old boy, presenting the classical feature of AHEI with alarming cutaneous presentation, but good clinical condition. Early recognition is crucial to avoid unnecessary medical investigations or therapies, as well as to identify potentially severe complications.

First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

BACKGROUND: Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood. Identification of a hemizygous EDA pathogenic variant in an affected male confirms the diagnosis. CASE PRESENTATION: We report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. Gene panel sequencing identified a new hemizygous missense variant of uncertain significance (VUS) c.1142G > C (p.Gly381Ala) in the EDA gene, located on the X chromosome and inherited from the healthy mother. CONCLUSION: Despite the potential functional impact of VUS remains uncharacterized, our goal is to evaluate the clinical potential consequences of missense VUS on EDA gene. Even if the proband's phenotype is characteristic for classic HED, further reports of patients with same clinical phenotype and the same genomic variant are needed to consider this novel VUS as responsible for the development of HED.