Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
An. bras. dermatol
;
93(1): 135-137, Jan.-Feb. 2018. graf
Article
in English
| LILACS
| ID: biblio-887143
ABSTRACT
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Abnormalities, Multiple
/
Trichothiodystrophy Syndromes
/
Ichthyosis
/
Intellectual Disability
Type of study:
Risk factors
Limits:
Child, preschool
/
Humans
/
Male
Language:
English
Journal:
An. bras. dermatol
Journal subject:
Dermatology
Year:
2018
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal de Minas Gerais/BR
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