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Update on Genetic Conditions Affecting the Skin and the Kidneys Genetic conditions affecting the skin and kidney are clinically and genetically heterogeneous, and target molecular components present in both organs The molecular pathology involves defects of cell–matrix adhesion, metabolic or signaling pathways, as well as tumor suppressor genes
Spectrum of Renal Involvement Among Children with Ectodermal Dysplasia . . . Ectodermal dysplasias (EDs) are a heterogeneous group of genetic disorders that affect ectodermal derivatives, variably involving hair, nails, teeth, and sweat glands We recently encountered a case of a two-year-old child with ED, notable for a congenital absence of one kidney This suggested a pot …
Saudi Journal of Kidney Diseases and Transplantation He was diagnosed to have chronic kidney disease (CKD) stage 5, secondary to chronic glomerulonephritis We noted him to have dysmorphic features - frontal bossing, absent hair and eyelashes, narrow palpebral fissures and abnormal dentition
Ectodermal Dysplasia: Types, Symptoms Treatment - Cleveland Clinic The type of ectodermal dysplasia you have depends on which genes have variations (and what kind of variations they have) Often, the condition runs in biological families In rare cases, the genetic variation happens without any history of ectodermal dysplasia in your family
Top 10* Most Common Ectodermal Dysplasias - NFED Clouston syndrome is frequently called hidrotic ectodermal dysplasia because affected individuals sweat normally and exhibit no heat intolerance Clouston syndrome is inherited as an autosomal dominant disorder
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC) Dental abnormalities including absence of teeth, absent or blocked tear ducts, light sensitivity (photophobia) and kidney abnormalities are common — individuals affected by EEC generally experience some but not all of these abnormalities
What Is EEC Syndrome? A Guide to this Genetic Condition The presence of ectrodactyly, ectodermal dysplasia manifestations, and cleft lip or palate often prompts suspicion Clinical assessments may involve X-rays of the limbs and jaw to evaluate bone abnormalities, and depending on the associated features, a kidney ultrasound or ophthalmologic examinations may be performed