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 …
Familial melanoma in short Prevalence: Unknown Inheritance: Autosomal dominant, Multigenic/multifactorial Age of onset: Adult Epidemiology What are the symptoms of Familial melanoma? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description Etiology Diagnostic methods Differential diagnosis Key differential diagnoses include Genetic counseling Management and treatment Prognosis
Familial joint laxity in short Synonyms: Prevalence: Unknown Inheritance: Autosomal dominant Age of onset: Adolescent, Childhood, Infancy What are the symptoms of Familial joint laxity? Very Frequent Symptoms Frequent Symptoms Occasional Symptoms
Familial isolated vitamin E deficiency Disease definition Synonym(s): Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal recessive Age of onset: All ages Epidemiology The worldwide incidence remains uncertain, though demographic research suggests an approximate rate of 1/300,000. In North African regions, AVED ranks as the second most common inherited cerebellar ataxia. The higher occurrence of AVED in regions …