A New Case of Isolated Trichothiodystrophy

Abstract

We describe a new case of isolated trichothiodystrophy. This entity is characterized by sparse and brittle hair, low sulfur hair content, tiger tail pattern of the hair under polarizing microscopy, clean transverse fractures through the hair shaft and absent or defective hair cuticles. To our knowledge there are only two reported cases of isolated trichothiodystrophy without associated additional ectodermal or neuroectodermal dysplasias. Polarized microscopy of cut hair showed transverse fracture points (trichoschisis) and alternating dark and bright bands. Low sulfur content of the hairs was confirmed by amino acid analysis. Many acronyms and eponyms have been created to describe sulfur-deficient brittle hair associated with neuroectodermal abnormalities, leading to confusion. We suggest to use a simple classification scheme, according to increasing severity of associated features as proposed by Van Neste.

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

“…These tests included Terman–Merrill (three patients, IQ range 25–40),89 Wechsler Intelligence Scale for Children (two patients, IQ range 45–89),25 39 Stanford–Binet (three patients, IQ range 32–79)14 15 93 and not specified or other exam (such as Leiter scale and Ruth Griffiths test) (13 patients, IQ range 34–88) 17 27 37 60 64 69 71 76 77 79 83. As a result, an average value could not be determined.…”

“…Five cases reported “mild TTD”, in which the patients had involvement of only hair, skin or nails 23 37 38 84. Two of these patients38 had abnormal nails and one84 had dry skin, but none had the neurologic abnormalities seen in many TTD patients.…”

“…Six additional patients7 were reported as having mutations in the newly discovered TTDN1 gene with unknown function. Eleven patients were reported to not have a DNA repair abnormality 37 57 67 72 75 85 90 107. Of the 32 patients with mutations in XPD, 27 were reported to have photosensitivity.…”

Trichothiodystrophy in a child with occult learning disorder

“…[2] It is a rare, autosomal recessive disorder with clinical heterogenous manifestation but the common appearance of brittle, sulfur-deficient hair. TTD is a marker of neuroectodermal symptom complex with features ranging from milde.st spectrum of an isolated disorder of hair,[3] to combination of photosensitivity, itchthyosis, brittle hair, infertility, developmental delay, and short stature. Van Neste et al .…”

Trichothiodystrophy with severe cardiac and neurological involvement in two sisters

“…Many other clinical features such as growth and mental retardation, nail dysplasia, ichthyosis, photosensitivity, cataract, neurological abnormalities, bony defects, decreased fertility and immunode®ciency may be associated with TTD [12]. Cases of isolated TTD have also been reported [2,17]. Since the clinical appearance of TTD is very heterogeneous, numerous synonyms and acronyms have been created to describe it: brittle hair, intellectual impairment, decreased fertility and short stature (BIDS); ichthyosis in addition to BIDS; photosensitivity associated with IBIDS; osteosclerosis in addition to IBIDS; Pollitt syndrome, and Tay syndrome.…”