Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis.
case_report · Level V
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- Record sourced from PubMed, PMID 8491872.
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Abstract
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.
Medical subject headings
- Hair
- Hypogonadism
- Osteosclerosis
- Photosensitivity Disorders
- Sulfur