Genetically heterogenerous autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called ‘tiger tail banding,’ under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer.
- Specific challenges associated with the recognition of the condition :
Difficult clinical diagnosis when hair symptoms not prominent in the context of a large number of presenting features in particular mental retardation.
- Specific challenges associated with the diagnosis :
Need of trichological screening, biochemistry of hair, and molecular diagnosis.
- Specific challenges associated with the treatment :
Supportive care, no treatment.
- Specific challenges associated with care of these patients over their :
Dominated by mental retardation and specific care according to handicap (variable clinical presentation).
Prevalence : unknown