Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was perf...

Cadherins are Ca -binding, transmembrane proteins involved in cell adhesion. Recently, three cadherin molecules, cadherin-23, protocadherin-15, and cadherin-3 were found to be defective in various human diseases, many of them with photoreceptor degeneration and/or sensorineural hearing loss as major featuresUsher syndrome type 1D (USH1D), USH1F, and hypotrichosis with juvenile macular dystrophy...

Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...

ECTODERMAL DYSPLASIA IS A RARE DISORDER WITH DEFECTS IN TWO OR MORE OF THE FOLLOWING STRUCTURES: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. I...

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Two case reports illustrating the prosthetic rehabilita...

Cutaneous epitheliotropic T-cell lymphoma with liver metastasis was diagnosed in a 10-year-old eastern chipmunk (Tamias striatus). Physical findings included intracutaneous swellings, ulcerated plaques and nodules, hypotrichosis and erythema of the skin. Fine needle aspiration from the skin lesions showed a population of large lymphocytes and lymphoblasts, and was helpful in establishing the di...

Ectodermal dysplasia exhibits a classic triad of hypohidrosis, hypotrichosis, and hypodontia. Self- mutilation could be due to organic or functional causes. The occurrence of selfmutilation with functional cause represents a diagnostic challenge to practitioners. In most of the instances dentists are the first to recognize patient with ectodermal dysplasia as they report primarily with a compla...

Ectodermal dysplasia is a rare congenital disease that affects the ectodermal structures. It is characterized by hypotrichosis, hypohidrosis and hypodontia. A 14-year-old boy with ectodermal dysplasia presenting with oligodontia and marked resorption of the maxillary and mandibular alveolar ridges is reported. Prosthetic rehabilitation in the form of a maxillary and mandibular partial denture w...

Among children with recessive metaphyseal dysplasia involving the knees and extremities, two types can be distinguished. In true cartilage-hair hypoplasia, as described by McKusick, many patients show clinical hair involvement and variable immunodeficiency. We present a series of six patients with the same radiological changes, but without apparent hypotrichosis. We suggest that they should be ...