Presentation
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]
Entire Body System
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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]
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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]
Eyes
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Retinal Lesion
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]
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Strabismus
Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. [scielo.br]
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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]
Musculoskeletal
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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]
Skin
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Brittle Hair
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]
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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]
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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]
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Erythema
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]
Psychiatrical
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Suggestibility
Further investigation revealed, through hair microscopy analysis, a characteristic tiger tail banding pattern, which is highly suggestive of trichothiodystrophy. [scielo.br]
Face, Head & Neck
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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]
Treatment
Management and treatment There is no specific treatment. The documents contained in this web site are presented for information purposes only. [orpha.net]
Etiology
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]
Epidemiology
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]