Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis in three siblings.
BACKGROUND
Generalized follicular hamartoma is a rare condition that has been described in association with alopecia, myasthenia gravis, and circulating autoantibodies. To date, all reported cases have appeared in female individuals. We report a kindred in which three siblings were affected by this condition in association with alopecia and cystic fibrosis.


METHODS
Three children of two consanguineous patients were affected by cystic fibrosis. They also had the same phenotype characterized by senilized facies, partial alopecia, and hypohidrosis, severe 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 not appear during the clinical course of our patients, and circulating autoantibodies were not detected. All three patients died during childhood due to complications of cystic fibrosis.


CONCLUSIONS
Generalized follicular hamartoma is a rare condition previously reported in association with alopecia, myasthenia gravis, and/or circulating autoantibodies (antinuclear and antiacetylcholine receptor antibodies). These are the first congenital cases of generalized follicular hamartoma described, and it is also the first time that an association with cystic fibrosis is reported. The striking association of generalized follicular hamartoma with cystic fibrosis in these three siblings suggests that there may be a genetic linkage between the two conditions.
Mascaró
J M
JM
Department of Dermatology, Hospital Clinic, Barcelona, Spain.
Ferrando
J
J
Bombí
J A
JA
Lambruschini
N
N
Mascaró
J M
JM
D000505:Alopecia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006222:Hamartoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree