Pibi(d)s syndromeQ87.8
DefinitionThis section has been translated automatically.
Autosomal recessive syndrome with excessive photosensitivity, a defect in the DNA repair system, ichthyosis, brittle hair, neurological disorders and dwarfism The clinical picture belongs to group D of the Xeroderma pigmentosum disease, but does not show any skin tumours in the first 20 years of life.
LiteratureThis section has been translated automatically.
- Rebora A, Crovato F (1987) PIBI(D)S syndrome-trichothiodystrophy with xeroderma pigmentosum. J Am Acad Dermatol 16:940-947