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Trichothiodystrophy

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).

Psychomotor retardation

Total: 1

(per page)

PMID (PMCID)
29641717 (5871382)	MALE
	Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.
	Pereira LB, Valente NYS, Rocha VB. An Bras Dermatol. 2018;93(1):135-137.
	The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation.