title: De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
abstract: Generalized hypertrichosis is a feature of several genetic disorders, and the nosology of these entities is still provisional. Recent studies have implicated chromosome 17q24.2-q24.3 microdeletion and the reciprocal microduplication in a very rare form of congenital generalized hypertrichosis terminalis (CGHT) with or without gingival hyperplasia. Here, we report on a 5-year-old Egyptian girl born to consanguineous parents. The girl presented with CGHT and gingival hyperplasia for whom we performed detailed clinical, pathological, and molecular studies. The girl had coarse facies characterized by bilateral epicanthic folds, thick and abundant eyelashes, a broad nose, full cheeks, and lips that constituted the distinctive facial features for this syndrome. Biopsy of the gingiva showed epithelial marked acanthosis and hyperkeratosis with hyperplastic thick collagen bundles and dense fibrosis in the underlying tissues. Array analysis indicated a 17q24.2-q24.3 chromosomal microdeletion. We validated this microdeletion by real-time quantitative PCR and confirmed a perfect co-segregation of the disease phenotype within the family. In summary, this study indicates that 17q24.2-q24.3 microdeletion caused CGHT with gingival hyperplasia and distinctive facies, which should be differentiated from the autosomal recessive type that lacks the distinctive facies.
authors.affiliation: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Hanan H
authors.initials: HH
authors.lastname: Afifi
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Ryoko
authors.initials: R
authors.lastname: Fukai
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Pathology Department, Medical Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Amina A
authors.initials: AA
authors.lastname: Gamal El Din
authors.affiliation: Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Maha M
authors.initials: MM
authors.lastname: Eid
authors.affiliation: Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Ola M
authors.initials: OM
authors.lastname: Eid
authors.affiliation: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Manal M
authors.initials: MM
authors.lastname: Thomas
authors.affiliation: Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Tarek H
authors.initials: TH
authors.lastname: El-Badry
authors.affiliation: Pediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Angie M S
authors.initials: AM
authors.lastname: Tosson
authors.affiliation: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Ghada M H
authors.initials: GM
authors.lastname: Abdel-Salam
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D005351:Fibromatosis, Gingival / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D006983:Hypertrichosis / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D010641:Phenotype
keywords: 17q24.2-q24.3 microdeletion; coarse face; distinctive facial features; gingival biopsy; gingival hyperplasia; hypertrichosis terminalis