Nel capitolo delle tricotiodistrofie è inclusa la PIBI(D)S, rara sindrome ereditaria autosomico-recessiva caratterizzata da fotosensibilità (P), ittiosi non congenita (I), capelli fragili e con ridotto contenuto di aminoacidi solforati (B), deficit intellettivo (I), fertilità incostantemente ridotta (D) e bassa statura (S).
Riportiamo il caso di una giovane paziente con diagnosi clinica di PIBI(D)S posta all'età di 12 anni e rilievo RM di dismielinizzazione del SNC.
Nei pazienti con tricotiodistrofia vanno quindi ricercate possibili alterazioni a carico di organi che derivano dall'ectoderma ed in particolare nel SNC, attualmente bene analizzabile con le nuove tecniche di immagine quali la RM.
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