Pibi(d)s syndrome Q87.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Definition
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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.

Literature
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  1. Rebora A, Crovato F (1987) PIBI(D)S syndrome-trichothiodystrophy with xeroderma pigmentosum. J Am Acad Dermatol 16:940-947

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Last updated on: 29.10.2020