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]

• 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]

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]