Hair, cilia, and nails were normal at this presentation. He presented two café-au-lait spots on his skin. 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]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

• Nail Abnormality

  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]

• Short Stature

  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]

• Retinal Lesion

  In the LE, a pink-co lored optic disc was observed, with a 0.6 × 0.6 cup-to-disc ratio and normal emergence of the retinal vessels ( Figure 1C ). No retinal lesions were visible in either eye. The corneal thickness was RE: 590 mm and LE: 585 mm. [scielo.br]

• Strabismus

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

• Dry Eyes

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

• Normal Stature

  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]

• Brittle Hair

  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 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]

• Photosensitivity

  Etiology About half of the patients with TTD exhibit marked photosensitivity, due to abnormalities in excision repair of ultraviolet (UV)-damaged DNA. [orpha.net]

  Trichothiodystrophy: photosensitive, TTD-P, TTD, Tay syndrome. Adv Exp Med Biol. 2010; 685:106-10. [ Links ] 10 Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, et al. Ocular manifestations of trichothiodystrophy. [scielo.br]

• Alopecia

  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]

• Sparse Hair

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

• Sparse Hair

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

• Suggestibility

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

• Malar Rash

  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]

Management and treatment There is no specific treatment. The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology About half of the patients with TTD exhibit marked photosensitivity, due to abnormalities in excision repair of ultraviolet (UV)-damaged DNA. [orpha.net]

No etiological diagnosis was determined at this point. The patient was initially medicated with topical timolol maleate and dorzolamide in both eyes. Latanoprost was further added, but IOP remained at 24 mmHg RE and 18 mmHg LE. [scielo.br]

Summary Epidemiology The exact prevalence of TTD is unknown, but it appears to be rather uncommon. Clinical description Within the spectrum of the TTD syndromes are numerous syndromes affecting mainly organs derived from the neuroectoderm. [orpha.net]