A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

Objectives: Acatalasemia is a very rare disorder characterized by gangrenous oral ulcerations and is caused by biallelic variants in the CAT gene which encodes the catalase enzyme that decomposes the hydrogen peroxide molecules to remove their toxic effect. We report two siblings from a consanguineous Egyptian family presenting with joint hyperlaxity, loose dentitions with gangrenous periodontitis, and early loss of teeth.

Study Design: The patients were clinically suspected to have the periodontal type of Ehlers-Danlos syndrome and thus genetic testing of C1S and C1R causative genes was carried out first by Sanger sequencing then exome sequencing (ES) was considered.

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

Objective: Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in DSPP gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI.

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without significant deformities in the long bones. DASS (Dental Abnormalities and Short Stature), caused by alterations in the gene, was previously considered as a subtype of brachyolmia. The present study investigated three unrelated consanguineous families (A, B, C) with Brachyolmia and DASS from Egypt and Pakistan.

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

Abnormal hyperpolarization of the KCNK4 gene, expressed in the nervous system, brain, and periodontal ligament fibroblasts, leads to impaired neurotransmitter sensitivity, cardiac arrhythmias, and endocrine dysfunction, as well as, progressive cell proliferation. De novo gain of function variants in the KCNK4 gene were reported to cause a recognizable syndrome characterized by facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth (FHEIG, OMIM# 618381). FHEIG is extremely rare with only three reported cases in the literature.

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on chromosome 21. This syndrome has a clinical heterogeneity mainly exhibited with variable degrees of intellectual disability (ID) and congenital alopecia, as well. Eight families with 13 cases have been previously reported.

Confirmation of a Phenotypic Entity for Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Ectodermal dysplasia (ED) are hereditary disorders characterized by the disturbance of the ectodermal development of at least two of four ectodermal tissues: teeth, hair, nails and sweat glands. Clinical classification of ED is challenged by overlapping features, variable expressivity, and low number of patients, hindering full phenotypic spectrum identification. Disease-causing variants in elements of major developmental pathways, e.

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.

Bruck Syndrome (BS) is a very rare disorder characterized by osteogenesis imperfecta (OI) associated with congenital contractures and is caused by mutations in FKBP10 or PLOD2 genes. Herein, we describe 13 patients from 9 unrelated Egyptian families with BS. All patients had white sclerae, recurrent fractures, kyphoscoliosis and osteoporosis with variable degrees of severity.

Oro-dental features in Egyptian patients with familial mediterranean fever.

Introduction: Familial Mediterranean fever (FMF) is an episodic inflammatory disease that is inherited as an autosomal recessive trait. It is primarily featured by fever, pain in joints, chest, and abdomen due to Serositis.

Aim: This study delineated the oro-facial structures presented associated with FMF, as well as, the determination of the potential influences of the long-term inflammatory process of FMF on several oral structures.

Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.

Gaucher disease (GD) is a rare lysosomal storage disorder that is divided into three subtypes based on presentation of neurological manifestations. Distinguishing between the types has important implications for treatment and counseling. Yet, patients with neuronopathic forms of GD, types 2 and 3, often present at young ages and can have overlapping phenotypes.

Gene Mutations of the Three Ectodysplasin Pathway Key Players (, , and ) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.

Ectodermal dysplasia (ED) is a diverse group of genetic disorders caused by congenital defects of two or more ectodermal-derived body structures, namely, hair, teeth, nails, and some glands, e.g., sweat glands.

Erratum: Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.

[This corrects the article DOI: 10.1055/s-0039-3400489.].

Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.

Enamel renal syndrome (ERS) or so-called amelogenesis imperfecta type IG is a very rare disorder characterized by the triad of amelogenesis imperfecta, gingival enlargement and nephrocalcinosis. It is caused by biallelic mutations in the FAM20A gene. Herein, we report two unrelated patients with ERS.

Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.

Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder caused by a mosaic tetrasomy of chromosome 12p, which mainly manifests with craniofacial dysmorphism, intellectual disability (ID), auditory disturbance, epilepsy, and a variety of congenital malformations. The diagnosis of PKS can be complicated due to the phenotypic variation, and an overlap with other syndromes makes the molecular cytogenetic test necessary for a correct diagnosis. We identified two unrelated patients with typical facial features of PKS, including bitemporal alopecia, hypertelorism, and abnormal ears.

Deleterious Variants in , and Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.

The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the literature. The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis.

Philtrum length and intercommissural distance measurements at mixed dentition period.

Anthropometric measurements of the lip and mouth are of great importance in clinical dysmorphology as well as reconstructive plastic surgery. In this study, the philtrum length (PhL) and intercommissural distance (ICmD) nomograms for Egyptian children in the mixed dentition period were established. A group of 1,338 Egyptian students in primary schools (735 boys and 603 girls) were included in the study.

The Use of Different Irrigation Techniques to Decrease Bacterial Loads in Healthy and Diabetic Patients with Asymptomatic Apical Periodontitis.

Background: Diabetes mellitus is a multisystem disease which weakens the human's immunity. Subsequently, it worsens the sequelae of apical periodontitis by raising a fierce bacterial trait due to the impaired host response.

Aim: This study aimed to estimate bacterial reduction after using different irrigation techniques in systemically healthy and diabetic patients with asymptomatic apical periodontitis.

Oral mucous membrane pemphigoid in a 6-year-old boy: diagnosis, treatment and 4 years follow-up.

Background: Childhood oral pemphigoid is extremely rare and usually takes the form of desquamative gingivitis.

Case Report: We describe a 6-year-old boy who presented with gingival bleeding, pain, eating difficulty, and peeling of the gums. Clinical examination revealed desquamative gingivitis with no extra-oral involvement.