| • | AKA dwarfism with retinal atrophy and deafness |
| • | = one of the syndromes of premature aging |
| • | autosomal recessive; defect = XPB DNA helicase (genetic defect is in the XP complentation group G DNA helicase) |
Skin:
| • | photodistributed erythema; subcutaneous fat loss with resultant sunken eyes and aged appearance |
Neurologic:
| • | “salt and pepper” retinal pigment |
| • | diffuse demyelination of CNS and PNS |
| • | prognosis - progressive unremitting neurologic degeneration with death by second or third decade |
| • | ddx: progeria, disorders of photosensitivity: Bloom syndrome, Rothmund-Thomson syndrome, Hartnup syndrome, XP |
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