What’s new in trichothiodystrophy

Abstract

[No abstract available

Diseases of cutaneous appendages

“…518,[528][529][530][531][532] This results from a deficiency of the sulfur-containing aminoacid cystine in the cuticle and cortex. 518,[528][529][530][531][532] This results from a deficiency of the sulfur-containing aminoacid cystine in the cuticle and cortex.…”

Trichoscopy in genetic hair shaft abnormalities

“…32 The X-ray analysis results also showed that calcium was absent in tracts corresponding to dark bands, whereas it was normally present in light bands. 39 Amino-acid analysis of hair in trichothiodystrophy shows notably low cysteine content (less then half of normal content), that parallels the low total sulfur content. 38 Light microscopy showed hair shafts with an irregular, undulating contour and clean transverse fractures through the hair shaft (trichoschisis).…”

ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype

“…1,2 The deficiency of sulphur in the skin and its appendages causes brittle, dry and sparse body hair with a typical pattern of alternating light and dark bands ('tiger-tail banding') on polarized light microscopy. [3][4][5][6] Newborns frequently present with a collodion membrane, followed by ichthyosis of the skin and nail deformities like brittleness, koilonychia and onychoschizia. Additional important features of TTD include pregnancy and birth complications, growth restriction, neurological impairment, gonadal dysgenesis, haematological and ophthalmological abnormalities and recurrent life-threatening infections.…”

“…in 1979, is an uncommon autosomal recessive syndrome which is characterized by a variety of skin, hair and nail anomalies . The deficiency of sulphur in the skin and its appendages causes brittle, dry and sparse body hair with a typical pattern of alternating light and dark bands (‘tiger‐tail banding’) on polarized light microscopy . Newborns frequently present with a collodion membrane, followed by ichthyosis of the skin and nail deformities like brittleness, koilonychia and onychoschizia.…”