@article {10465, title = {[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].}, journal = {Arch Argent Pediatr}, volume = {115}, year = {2017}, month = {2017 02 01}, pages = {e34-e38}, abstract = {

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.

}, keywords = {Child, Preschool, Ectodermal Dysplasia 1, Anhidrotic, Edar Receptor, Humans, Male, Mutation, Pedigree}, issn = {1668-3501}, doi = {10.5546/aap.2017.e34}, author = {Callea, Michele and Cammarata-Scalisi, Francisco and Willoughby, Colin E and Giglio, Sabrina R and Sani, Ilaria and Bargiacchi, Sara and Traficante, Giovanna and Bellacchio, Emanuele and Tadini, Gianluca and Yavuz, Izzet and Galeotti, Angela and Clarich, Gabriella} } @article {8093, title = {Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia.}, journal = {Leuk Lymphoma}, year = {2015}, month = {2015 Dec 24}, pages = {1-3}, issn = {1029-2403}, doi = {10.3109/10428194.2015.1115030}, author = {Callea, Michele and Bellacchio, Emanuele and Fattori, Fabiana and Bertini, Enrico and Callea, Francesco and Cammarata-Scalisi, Francisco} } @article {8086, title = {[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].}, journal = {Arch Argent Pediatr}, volume = {113}, year = {2015}, month = {2015 Dec 1}, pages = {e341-4}, abstract = {

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.

}, issn = {1668-3501}, author = {Callea, Michele and Yavuz, Izzet and Clarich, Gabriella and Cammarata-Scalisi, Francisco} } @article {1874, title = {Infantile bilateral glaucoma in a child with ectodermal dysplasia.}, journal = {Ophthalmic Genet}, volume = {34}, year = {2013}, month = {2013 Mar-Jun}, pages = {58-60}, abstract = {

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

}, keywords = {Antihypertensive Agents, Child, Ectodermal Dysplasia, Ectodysplasins, Humans, Hydrophthalmos, Intraocular Pressure, Male, Mutation, Polymorphism, Single Nucleotide, Tonometry, Ocular}, issn = {1744-5094}, doi = {10.3109/13816810.2012.666707}, author = {Callea, Michele and Vinciguerra, Agatino and Willoughby, Colin E and Deroma, Laura and Clarich, Gabriella} } @article {1884, title = {Oral rehabilitation of children with ectodermal dysplasia.}, journal = {BMJ Case Rep}, volume = {2012}, year = {2012}, month = {2012}, abstract = {

The aim of this study was to describe the clinical treatment of young patients, affected by ectodermal dysplasia (ED), and to possibly establish clinical guidelines. The study design was case series. ED syndromes (EDs) are a heterogeneous group of inherited diseases characterised by abnormal development of tissues of ectodermal origin. The most common form of EDs is X linked hypohidrotic ED (HED). Characteristic triad of HED is oligo-anodontia, hypotricosis, hypo-anhydrosis. Oligo-anodontia is one of the most severe impairment, since it affects chewing, swallowing, speech, esthetics and social relation. Early prosthetic rehabilitation (at 2-3 years of age), with partial or complete dentures, is essential to improve oral function and reduce the social impairment.

}, keywords = {Child, Child, Preschool, Denture, Complete, Denture, Partial, Ectodermal Dysplasia 1, Anhidrotic, Esthetics, Dental, Humans, Male, Mastication, Speech}, issn = {1757-790X}, doi = {10.1136/bcr.01.2012.5652}, author = {Montanari, Marco and Callea, Michele and Battelli, Filippo and Piana, Gabriela} } @article {1605, title = {Adam{\textquoteright}s rib and the origin of stem cells.}, journal = {Am J Hematol}, volume = {86}, year = {2011}, month = {2011 Jun}, pages = {529}, keywords = {Humans, Ribs, Stem Cell Transplantation, Stem Cells}, issn = {1096-8652}, doi = {10.1002/ajh.22005}, author = {Callea, Francesco and Callea, Michele} }