CONGENITAL GENERALIZED FOLLICULAR HAMARTOMA ASSOCIATED WITH ALOPECIA AND CYSTIC-FIBROSIS IN 3 SIBLINGS

Background: Generalized follicular hamartoma is a rare condition that has been described in association with alopecia, myasthenia gravis, an d circulating autoantibodies. To date, all reported cases have appeare d in female individuals. We report a kindred in which three siblings w ere affected by this condition in association with alopecia and cystic fibrosis. Observations: Three children of two consanguineous parents were affected by cystic fibrosis. They also had the same phenotype cha racterized by senilized facies, partial alopecia, and hypohidrosis, se vere retardation of physical growth, and hyperelasticity of the skin. In all three children, skin biopsy specimens revealed the presence of basaloid proliferations at the level of the hair follicles that could not be demonstrated in their healthy parents. Myasthenia gravis did no t appear during the clinical course of our patients, and circulating a utoantibodies were not detected. All three patients died during childh ood due to complications of cystic fibrosis. Conclusions: Generalized follicular hamartoma is a rare condition previously reported in associ ation with alopecia, myasthenia gravis, and/or circulating autoantibod ies (antinuclear and antiacetylcholine receptor antibodies). These are the first congenital cases of generalized follicular hamartoma descri bed, and it is also the first time that an association with cystic fib rosis is reported. The striking association of generalized follicular hamartoma with cystic fibrosis in these three siblings suggests that t here may be a genetic linkage between the two conditions.