Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis.
Three new unrelated cases of PIBIDS (Photosensitivity, Ichthyosis, Brittle, sulfur-deficient hair [trichothiodystrophy], Impaired intelligence, Decreased fertility, and Short stature) are reported. Decreased survival of skin fibroblast lines after UVB exposure was found. All three male patients had hypogonadism and primary end-organ gonadal failure. Striking osteosclerosis was present in all three patients. To the best of our knowledge the third patient is the first reported case of a black man with PIBIDS.
McCuaig
C
C
Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Quebec, Canada.
Marcoux
D
D
Rasmussen
J E
JE
Werner
M M
MM
Gentner
N E
NE
D000328:Adult; D000365:Age Determination by Skeleton; D001827:Body Height; D002675:Child, Preschool; D005145:Face; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007006:Hypogonadism / Q000473:pathology; D007057:Ichthyosis / Q000473:pathology; D008607:Intellectual Disability; D008297:Male; D010026:Osteosclerosis / Q000473:pathology; D010787:Photosensitivity Disorders / Q000473:pathology; D012741:Sexual Maturation; D013455:Sulfur / Q000172:deficiency*; D013577:Syndrome
D013455:Sulfur