Follicular hamartoma - alopecia - cystic fibrosis: A rare syndrome characterized by small benign growths that develop in hair follicles, alopecia and cystic fibrosis
Alopecia Reduced sweating Retarded growth Hyperelastic skin Aged facial appearance
Cystic fibrosis is an autosomal recessive disease resulting from mutations in a gene located on chromosome 7. The gene responsible for cystic fibrosis encodes a protein that involves chloride transport across epithelial membranes. The most common mutation in the cystic fibrosis gene involves a deletion resulting in absence of phenylalanine at the cystic fibrosis transmembrane regulator. There have been more than 800 mutations identified to date. The immediate causes of symptoms are increased viscosity of bronchial, pancreatic, and other mucous gland secretions and consequent obstruction of glandular ducts. Cystic fibrosis accounts for almost all cases of pancreatic enzyme deficiency in children.
Home medical testing related to Follicular hamartoma - alopecia - cystic fibrosis: Home Lung Function Tests