The clinical appearance is always characterized by brittle and fragile hair, often combined with growth retardation and intellectual deficit, congenital ichthyosis and nail abnormalities, among other symptoms. [orpha.net]

The absence of mental impairment, short stature, and repeated infections led us to believe that this could be a milder case of trichothiodystrophy ( 9 ). [scielo.br]

No retinal lesions were visible in either eye. The corneal thickness was RE: 590 mm and LE: 585 mm. Axial length was normal (RE: 23.58 mm; LE: 23.03 mm). [scielo.br]

Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. [scielo.br]

Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. [scielo.br]

General physical examination revealed uncharacteristic facies, slight low ear implantation with normal stature, and weight development. Hair, cilia, and nails were normal at this presentation. He presented two café-au-lait spots on his skin. [scielo.br]

The variants of TTD, depending on their different associations, are: BIDS syndrome (or TTD type D or Amish Brittle Hair syndrome), IBIDS syndrome (or Tay syndrome or TTD typeE), PIBIDS syndrome (or TTD type F), Sabinas syndrome (TTD type B), SIBIDS syndrome [orpha.net]

The spectrum of clinical manifestations is broad, with some patients presenting only mild hair and nail changes, but commonly consists of photosensitivity, ichtyosis, brittle hair, intellectual impairment, short stature, and predisposition to infectious [scielo.br]

Differential diagnosis TTD is a differential diagnosis in congenital alopecias. Antenatal diagnosis Prenatal diagnosis, based on measurement of DNA repair in trophoblasts or amniotic cells, is available. [orpha.net]

His mother reported the absence of cilia and toenails at birth, and very sparse hair, which started growing 2 years later. [scielo.br]

Figure 1 A) Malar erythema with telangiectasia. B) Right eye retinography: A 0.9 0.9 cup-to-disc ratio is visible on the right eye. [scielo.br]

Further investigation revealed, through hair microscopy analysis, a characteristic tiger tail banding pattern, which is highly suggestive of trichothiodystrophy. [scielo.br]

Our patient's presentation with malar rash associated with telangiectasia present from birth, photosensitivity, and a history of nail and hair changes led to the consideration of genetic photodermatoses, namely, Bloom syndrome, which was excluded after [scielo.br]