Hp. Baden et Hr. Byers, CLINICAL FINDINGS, CUTANEOUS PATHOLOGY, AND RESPONSE TO THERAPY IN 21PATIENTS WITH KERATOSIS PILARIS ATROPHICANS, Archives of dermatology, 130(4), 1994, pp. 469-475
Background: Keratosis pilaris atrophicans defines a group of cutaneous
disorders characterized by follicular hyperkeratosis and scarring. X-
linked dominantinheritance has recently been reported in a Dutch famil
y with a form of keratosis pilaris atrophicans defined as keratosis fo
llicularis spinulosa decalvans, with males more severely affected and
having corneal involvement. The clinical manifestations observed in di
fferent families by others and ourselves did not follow that pattern,
suggesting genetic heterogeneity. We report our experience with 21 unr
elated individuals. Results: There were 15 male and six female patient
s whose onset of the skin disease was in early childhood but with scal
p involvement occurring in the teenyears. The cutaneous lesions consis
ted of follicular papules with scalp involvement present in eight indi
viduals. Half the women had scalp involvement, andone female and one m
ale had eye changes. Familial involvement was observed inthree patient
s and was compatible with dominant inheritance. Histopathologic examin
ation revealed hyperkeratosis of the upper follicle with an inflammato
ryresponse that resulted in follicular destruction. Response to therap
y including keratolytics, antibiotics, corticosteroids and retinoids w
as limited. Conclusions: Our findings support the hypothesis that ther
e is genetic and clinical heterogeneity among the disorders represente
d by the term keratosis pilaris atrophicans. The cause of these diseas
es may be a disorder of the keratinocyte, which is responsible for ind
ucing both the hyperkeratosis and inflammatory changes.