Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs

Abstract

Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.

PIBIDS syndrome in two Brazilian siblings

“…The incidence of the photosensitive form of TTD has been recently estimated at 1.2 per million live births in Western Europe 10. In Brazil, some cases of CS and XP have been previously described, in addition to two recently reported cases of patients with TTD associated with photosensitivity 11–13. The two patients here reported are the first PIBIDS cases in siblings in this country.…”

Hereditary syndromes with signs of premature aging

“…Клинические проявления трихотиодистрофии могут включать фоточувствительность, ихтиоз, нарушения интеллектуального развития. Описаны случаи атрофии мозжечка, кальцификации базальных ганглиев, микроцефалии, атаксии [77][78][79]. Большинство пациентов с данным заболеванием имеют мутации в генах системы репарации ДНК -XPD/ERCC2, XPB/ERCC3 или TTDA/GTF2H5 [77].…”