89: Hair Shaft Disorders Flashcards
(105 cards)
What are the clinical features of Trichorrhexis Nodosa?
Trichorrhexis Nodosa is characterized by brittle, easily broken, and lusterless hair with white nodular swellings at irregular intervals along the hair shaft.
What are the primary and secondary causes of hair shaft disorders?
- Primary disorder: Caused by a gene defect that changes the shape or composition of the hair shaft.
- Secondary disorder: Caused by external factors leading to weakness and often breakage of the hair shaft.
What are the management strategies for Trichorrhexis Nodosa?
Management strategies include:
- Acquired Trichorrhexis Nodosa: Improves with removal of external trauma.
- Inherited Trichorrhexis Nodosa: Varying courses of management depending on individual cases.
- Removal of harsh chemical treatments for acquired cases.
What is the epidemiology of Trichorrhexis Nodosa?
Trichorrhexis Nodosa is the most common disorder associated with hair breakage, with varying prevalence among different populations:
- Proximal: More common in African Americans due to strong chemical and heat-straightening treatments.
- Distal: More common in white and Asian populations due to frequent shampoo use, brushing, and chemical treatments such as bleaching.
What are the differential diagnoses (DDx) for Trichorrhexis Nodosa?
Differential diagnoses for Trichorrhexis Nodosa include:
- Alopecia areata
- Androgenic alopecia
- Monilethrix
- Piedra
- Seborrheic dermatitis
- Telogen effluvium
What are the clinical features of Trichorrhexis Nodosa in African American populations?
In African American populations, Trichorrhexis Nodosa often presents as proximal TN due to strong chemical and heat-straightening treatments.
Describe the clinical features and diagnostic methods for Trichorrhexis Nodosa (TN).
Trichorrhexis Nodosa is characterized by brittle, easily broken, and lusterless hair with white nodular swellings at irregular intervals along the hair shaft. Diagnostic methods include light and electron microscopy, which reveal a splayed paintbrush bristle appearance caused by a breach in the cuticle leading to exposure of fibers and increased susceptibility to fracture.
What are the key diagnostic features of Trichorrhexis Nodosa under microscopy?
Under light and electron microscopy, Trichorrhexis Nodosa shows a splayed paintbrush bristle appearance caused by a breach in the cuticle, leading to exposure of fibers and increased susceptibility to fracture.
What are the characteristic findings associated with Trichothiodystrophy (TTD)?
TTD is characterized by:
- Brittle hair (trichoschisis)
- Short stature
- Mental retardation
- Facial dysmorphisms
- Gonadal dysgenesis
- Increased risk of respiratory tract infections
What are the major genes associated with Autosomal Recessive TTD?
The four major genes associated with Autosomal Recessive TTD are:
1. ERCC2 (XPD)
2. ERCC3 (XPB)
3. P8 (TTDA)
4. C7ORF11 (TTDN1 or MPLKIP)
What is the significance of polarized light microscopy in diagnosing TTD?
Polarized light microscopy reveals ‘tiger tail’ hair, which shows:
- Light and dark alternating bands
- Irregular sulfur content
- Lighter areas with lower sulfur concentration, indicating photosensitivity and hair shaft abnormalities.
What are the complications associated with TTD in children under 10 years old?
Children under 10 years old with TTD have:
- 20-fold higher rate of mortality compared to the general US population
- Complications include:
- Intellectual impairment (86%)
- Short stature (73%)
- Ocular abnormalities (51%)
- Ichthyosis (65%) at any point during their lifetime
What is the recommended management for acquired trichoschisis?
For acquired trichoschisis, it is recommended to:
- Reduce hair manipulation to improve the condition.
- TTD with systemic effects requires multidisciplinary care.
What are the photosensitive and nonphotosensitive types of TTD?
Photosensitive types of TTD involve defects in nucleotide excision repair and include mutations in XPD, XPB, and TTDA. Nonphotosensitive types are linked to TT DN1 mutations.
What are the systemic complications of TTD in children?
Children with TTD have a 20-fold higher mortality rate under 10 years of age and may experience intellectual impairment, short stature, ocular abnormalities, and ichthyosis.
What are the genetic and environmental causes of Trichoschisis and TTD?
Trichoschisis is caused by external trauma or secondary to TTD, while TTD is associated with genes involved in DNA repair and transcription, such as ERCC2 (XPD), ERCC3 (XPB), P8 (TTDA), and C7ORF11 (TTDN1 or MPLKIP). Photosensitive types are caused by defects in nucleotide excision repair, while nonphotosensitive types are linked to TT DN1 mutations.
What is the clinical significance of the ‘tiger tail’ hair pattern in TTD?
The ‘tiger tail’ hair pattern, seen under polarized light microscopy, is a diagnostic feature of TTD. It shows light and dark alternating bands due to irregular sulfur content, with lighter areas having lower sulfur concentration.
What are the management strategies for acquired Trichoschisis?
Acquired Trichoschisis improves with the removal of external trauma, such as reducing hair manipulation.
What are the systemic complications associated with TTD?
TTD is associated with intellectual impairment, short stature, ocular abnormalities, and ichthyosis. Children under 10 years with TTD have a 20-fold higher mortality rate compared to the general population.
What are the characteristics of Pili Torti and its common causes?
Pili Torti is characterized by flattened hair shafts that are twisted 180 degrees along their long axis. It typically appears within the first 3 years of life and primarily affects the scalp. Common causes include anorexia nervosa, severe malnutrition, and inflammatory scalp conditions. The hair appears brittle and dry, with weak points of twists leading to shorter hair and increased fragility. Areas of alopecia may occur, particularly in the parietal and occipital areas.
What is Trichorrhexis Invaginata and its associated syndrome?
Trichorrhexis Invaginata, also known as Bamboo Hair, is characterized by the invagination of the distal hair shaft into the proximal portion. It is associated with Netherton syndrome, which has an incidence of approximately 1 in 200,000 live births. This condition presents with dry, lusterless, brittle hair and increased fragility, affecting not only scalp hair but also eyebrows and eyelashes. Areas of diffuse thinning and instances of complete alopecia may be present.
What are the diagnostic methods for Netherton syndrome?
Diagnostic methods for Netherton syndrome include:
- Light microscopy: Shows intussusception of the distal hair shaft into the proximal portion, leading to a ‘golf tee’ deformity.
- Electron microscopy: Reveals defects in keratinization of the inner root sheath (IRS).
- Trichoscopy: Provides an accurate and quick diagnostic tool for identifying hair shaft abnormalities.
What are the clinical features and treatment options for Netherton syndrome?
Clinical features of Netherton syndrome include:
- Atopic diathesis (75%)
- Ichthyosiform erythroderma (at birth as a collodion baby or in early life as ichthyosis linearis circumflexa)
- Trichorrhexis invaginata (most common; can also have pili torti)
Treatment options include:
- Emollients
- Topical steroids
- Topical immunomodulators
- Systemic treatment: low dose corticosteroids, retinoids, and phototherapy.
What are the diagnostic features of Pili Torti under microscopy?
Light microscopy of Pili Torti shows flattened, twisted hair occurring at irregular intervals along the hair shaft. Scanning electron microscopy reveals a spiral pattern of the hair follicle.