Fatal Infantile COX Deficiency: A Comprehensive Review Introduction Fatal infantile cytochrome c oxidase (COX) deficiency represents one of the most severe forms of mitochondrial respiratory chain disorders, characterized by profound energy metabolism dysfunction leading to invariably fatal outcomes in early infancy. COX, also known as Complex IV of the mitochondrial respiratory chain, catalyzes the final …
Fatal Familial Insomnia: A Comprehensive Review Introduction Fatal familial insomnia (FFI) is an extraordinarily rare, invariably fatal neurodegenerative prion disease that represents one of the most devastating inherited disorders affecting the human nervous system. First formally described by Lugaresi and colleagues in 1986, FFI belongs to the family of transmissible spongiform encephalopathies and is characterized …
Farber Lipogranulomatosis: A Comprehensive Review Introduction Farber lipogranulomatosis, also known as Farber disease (FD) or acid ceramidase deficiency, is an extremely rare, progressive, autosomal recessive lysosomal storage disorder first described by Sidney Farber and colleagues in 1957. This devastating condition affects approximately less than 1 in every 1,000,000 births, with more than 200 cases reported …
Familial Osteoectasia: A Comprehensive Review Introduction Familial osteoectasia, also known as hereditary hyperphosphatasia or juvenile Paget disease (JPD), is an extremely rare autosomal recessive bone disorder characterized by progressive skeletal malformations and abnormally rapid bone turnover. First described in 1956, this condition represents one of the most severe genetic bone diseases affecting infants and children, …
Familial Ossifying Fibroma – Introduction Familial ossifying fibroma is an exceedingly rare genetic variant of ossifying fibroma that affects multiple family members, representing one of the most challenging diagnostic entities in oral and maxillofacial pathology. Unlike sporadic ossifying fibromas, which occur as isolated cases, familial ossifying fibroma demonstrates an inherited pattern that requires careful genetic …
Familial Nasal Acilia: A Comprehensive Review Familial nasal acilia is an extremely rare genetic disorder characterized by the complete or near-complete absence of cilia on respiratory epithelial cells. This condition represents a severe form of mucociliary dysfunction that affects respiratory health from birth and requires early recognition for appropriate management. Definition and Nomenclature Familial nasal …
Familial multiple cutaneous leiomyomas in short Synonyms Prevalence: Unknown Inheritance: Autosomal dominant Age of onset: Adolescent, Adult, Elderly What are the symptoms of Familial multiple cutaneous leiomyomas? Very frequent symptoms Frequent symptoms Occasional symptoms Epidemiology The exact prevalence remains undetermined. Currently, documentation exists for more than 200 families affected by HLRCC. Clinical description The condition can manifest at …