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Trichology > Trichothiodystropy (TTD) > Flashcards

Trichothiodystropy (TTD) Flashcards

1
Q

What is TTD?

A

It stands for Trichothiodystrophy, a rare inherited disorder affecting neuro-development as well as the hair and skin.

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2
Q

Which medical specialties are involved in TTD management?

A

Dermatology,
Neonatology,
Paediatrics,
Ophthalmology,
Neurology,
Dentistry,
Infectious disease,
Genetics,
Haematology,
Immunology.

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3
Q

Name 3 characteristics features of TTD.

A

Photosensitivity
Brittle hair
Intellectual impairment

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4
Q

What are the common acronyms to describe TTD features?

A

PIBIDS

•photosensitivity
•Ichthyosis
•Brittle hair
•Intellectual impairment
•Decreased fertility
•short Stature

IBIDS

•Ichthyosis
•Brittle hair
•Intellectual impairment
•Decreased fertility
•Short stature

BIDS

•Brittle hair
•Intellectual impairment
•Decreased fertility
•Short stature

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5
Q

What are the common infections in TTD patients?

A

Respiratory
Gastrointestinal
Urinary
Ear

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6
Q

What is a common skin issue with TTD patients?

A

Ichthyosis

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7
Q

How is TTD diagnosed?

A

Low sulphur content on hair, Trichoschisis (tiger-tail banding)
Absent/damaged hair cuticle

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8
Q

What differentiates TTD from Xeroderma pigmentosum (XP) and Cockayne syndrome (CS)?

A

TTD patients are not at increased risk of developing skin cancer and do not develop pigment art abnormalities.

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9
Q

What is the primary treatment for Ichthyosis in TTD?

A

Frequent application of moisturisers and exfoliation.

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10
Q

How should TTD patients manage their hair?

A

Conservative hairdressing,
Avoiding high heat tools,
Routine use of conditioner.

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11
Q

What is the main cause of TTD?

A

Mutations or variants in specific genes

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12
Q

How many genes have been identified as causal factors in TTD?

A

A minimum of 10 different genes.

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13
Q

Which genes are primarily associated with the photosensitive form of TTD?

A

ERCC2
ERCC3
GTF2H5

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14
Q

What is the TFIH complex?

A

Also known as Transcription Factor IIH
It is a multi sub-unit protein complex, involved in important cellular processes such as DNA repair and gene transcription.

It plays a dual role in facilitating DNA damage repair, especially from UV radiation and initiating gene transcription.

Mutations in components of this complex are often implicated in the photosensitive form of TTD

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15
Q

What is the role of the TFIH complex?

A

Involved in DNA repair and gene transcription.

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16
Q

What type of DNA repair does the TFIH complex primarily deal with?

A

Damage incurred by IV radiation.

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17
Q

What phase of protein synthesis is the TFIH complex crucial for?

A

The initial phase known as gene transcription.

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18
Q

What deficiency is commonly observed in TTD patients?

A

Deficiency in proteins rich in sulphur

19
Q

What are the sulphur rich proteins typically responsible for?

A

Conferring strength to hair strands

20
Q

What unique pattern is observed in the cross section of hair from individuals with TTD?

A

Alternating dark and light bands, often likened to a tiger tail.

21
Q

What spectrum do the manifestations of TTD span?

A

From mild impact on hair quality to severe developmental delays and susceptibility to recurrent conditions.

22
Q

What pregnancy complications May mothers of children with TTD face?

A

Pregnancy-induced hypertension (preeclampsia) and HELLP syndrome (a severe form of preeclampsia, HELLP stands for:
Hemolysis (the process of the breakdown or destruction of red blood cells)
Elevated liver enzymes
Low platelet count

23
Q

What characteristics are common among children affected by TTD?

A

Premature delivery
Low birth weight
Stunted growth

24
Q

What common neurological symptom is found in TTD?

A

Reduced myelin formation, known as dysmyelination.

25
Q

How does TTD impact cognitive abilities?

A

Cognitive impairments and developmental lags are prevalent.

26
Q

What are common infection related concerns in TTD?

A

Frequent respiratory infections that can be life threatening

27
Q

What blood cell abnormalities are found in TTD?

A

Abnormal red blood cells and elevated levels of haemoglobin subtype A2

28
Q

What skin symptoms are common in TTD?

A

Ichthyosis
Nail deformities
Congenital cataracts

29
Q

What are characteristic hair abnormalities in TTD?

A

Brittle, sparse hair prone to breakage, especially during febrile illnesses

30
Q

What do lab tests reveal about the hair in TTD patients?

A

Diminished sulphur content and aberrant levels of the amino acid cystine.

31
Q

What are common symptoms related to nail in TTD?

A

Onychodystrophy; nails may be short, wide, ridged or thick and brittle.

32
Q

How does TTD affect eyebrows and eyelashes?

A

Eyebrows are frequently sparse and fragile, while eyelashes may appear nearly normal.

33
Q

What conditions closely resemble TTD in terms of DNA excision repair defects?

A

Xeroderma pigmentosum (XP)
Cockayne syndrome (CS)

34
Q

What diagnostic tests are key in differentiating TTD from XP and CS?

A

DNA repair assays and gene sequencing

35
Q

What unique skin feature sets TTD apart from XP?

A

TTD does not have an elevated risk of skin cancer or pigment art abnormalities

36
Q

What unique facial characteristics are seen in CS?

A

Deep set eyes
Prominent ears

37
Q

What is one diagnostic tool to do efferent iate between TTD, XP and CS regarding hearing?

A

Audiometric tests

38
Q

What are the primary symptoms of Menkes disease (MD)?

A

Abnormal hair structure
Neuro-degeneration
Issues with connective tissue

39
Q

What is trichorrexis invaginata?

A

A unique hair shaft defect known as bamboo hair, commonly seen in Netherton syndrome (another DD of TTD)

40
Q

What are the symptoms of acrodermatitis eneropathica?

A

Dermatitis
Diarrhoea
Alopecia
(All correctable with zinc supplementation)

41
Q

What nutritional conditions can mimic TTD symptoms?

A

Malnutrition
Acrodermatitis enteropathica

42
Q

What metabolic disorders can present symptoms similar to TTD?

A

Argininosuccinate lyase deficiency
Ornithine carboxylase deficiency

43
Q

What test can rule out metabolic disorders that mimic TTD?

A

Urinary amino acid analysis

Trichology (28 decks)

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