Disorders of the hair shaft present with a challenge while understanding the topic and also while diagnosing any patient presenting with a similar problem. This presentation makes the approach to any patient presenting with hair shaft disorders more comprehensive.

1. Approach to Hair Shaft
disorders
03.04.2018

2. Case Scenario 1
• A 9 year old boy presented with unruly hair since birth. Although his
hair appeared to have normal growth without excessive loss or
increased brittleness, it did not maintain its shape after styling. His
elder sister had experienced similar hair problems during childhood
but the condition had disappeared spontaneously with puberty. The
hair of the other immediate family members was normal.

4. Step 1
• HISTORY
Step 2
• PHYSICAL EXAMINATION
Step 3
• ADJUCNTS
• Hair mount, Light microscopy, SEM, trichoscopy, biochemical
analysis

5. HISTORY:

6. Complaints:
• My hair doesn’t grow long/ never had a haircut
• Unusual appearance /texture
• Suddenly started breaking
• Complete cessation of hair growth
• When did the problem first start?
• Are there any problems with nails or teeth
• How does the patient dress/style the hair? Brushing technique,
frequency of shampooing, use of heat and chemicals.

9. HAIR CARD TEST
• 8 * 12 cm piece of paper
• White on one side and black on
other side.
• Place the card on the scalp and
against the hair shafts in the
affected area.
• Broken hairs or regrowing hairs??

10. HAIR PULL TEST:
• Affected area- (50-60) hairs
• Pull along the hair shafts
• 4 different regions
• prerequisite?
• More than 5/6 hairs pulled out(10%)?

11. TUG TEST

12. HAIR MOUNT:
• Asses hair bulb and shafts using light microscopy.
• HAIR BULBS: epilated hair roots placed on a glass slide . Add a
mounting medium. Add cover slip
• Anagen vs Telogen?
• HAIR SHAFT: bubbles, irregularities, twisting,fractures

13. TRICHOSCOPY:
• Magnified observation of: hair shafts, hair follicle openings,
perifollicular epidermis , blood vessels.
• Normal terminal hair: uniform thickness, color throughout the
length.
• Vellus hairs: lightly pigmented, measure < 3 mm in length and < 30
microns in thickness.
• Regrowing hairs: darkly pigmented, straight with pointed ends

17. IS THERE HAIR BREAKAGE?
(FRAGILITY)
YES NO
PRESENT SINCE BIRTH?
CONGENITAL CONGENITALACQUIRED
• MONILETHRIX
• PILI TORTI
• TRICHORRHEXIS
NODOSA
• TRICHOTHIODYSTROPHY
• TRICHORRHEXIS
INVAGINATA
• BUBBLE HAIR
• ACQUIRED
TRICHORRHEXIS
NODOSA
• TRICHOPTILOSIS
• PILI ANNULATI
• PSEUDOPILI ANNULATI
• WOOLLY HAIR
• UNCOMBABLE HAIR
SYNDROME
• PILI BIFURCATI
• PILI MULTIGEMINI
• LOOSE ANAGEN HAIR
SYNDROME
• SHORT ANAGEN HAIR
SYNDROME

18. ACQUIRED HAIR SHAFT DISORDERS WITH
INCREASED FRAGILITY AND BREAKAGE
• BUBBLE HAIR:
1. Bubbles within hair cortex
2. High temperature :blow dryers/curling irons
3. Unruly and ‘fly-away’ hair
4. Excess lint and hair blocking intake of air into dryer.
5. 17.5 deg Celsius to 21.5 deg Celsius for 5 minutes
6. Damp hair.
7. Cuticular defects and focal loss of cortical cells and medulla at sites
of bubbles.

20. • TRICHOSCOPY:
• White oval spaces with swiss cheese structure.

21. TRICHORRHEXIS NODOSA
• Hair shaft fractures.
• Chemical, thermal, mechanical damage to hair shaft
• Acquired type: proximal and distal
• Change in quality of hair/dry hair/hair that won’t grow.
• Nodes at different sites along different hair shafts.
• Loss of shine
• malnutrition/metabolic disorders
• Association: pili annulati

23. • Trichoscopy:
• Light colored nodules or gaps along hair shaft
• Fractured ends= brush like appearence

25. TRCHOPTILOSIS:
• Split ends.
• Longitudinal splitting –distal end of hair
• Short hairs-friction /trichotillomania
• Trichoscopy: longitudinal splitting of the distal hair shafts. 2 or more
frayed ends of different length.

26. CONGENITAL HAIR SHAFT DISORDERS WITHOUT
INCREASED FRAGILITY
1. UNCOMBABLE HAIR SYNDROME(spun glass hair, cheveux
incoiffables, pili trianguli et canaliculi):
• unruly hair, difficult to style, standing away from the scalp
• Childhood, acquired also reported.
• Ocular, dental, ectodermal defects.
• Improves with ageing
• SEM: gold standard.
• HAIR MOUNT: canal-like longitudinal groove along one or two facets
• Examination of hair cross sections/Trichoscopy: triangular or kidney-
shaped appearance of hair shaft.

29. 2.PILI ANNULATI (Ringed hair):
• Non-fragile
• Glittery or spangled appearance
• Bright and dark bands.
• Scalp, axilla, beard, pubic areas
• BRIGHT BANDS= abnormal air filled cavities within cortex.
• HAIR MOUNT: bright bands appear dark
• Autosomal dominant
• 12q
• Association: alopecia areata, trichorrhexis nodosa

31. • TRICHOSCOPY:
• Alternating white bands corresponding to air-filled cavities.
• Confusion with: intermittent medulla of thick hair shafts.
(light-colored, less than 50 % of shaft width)

33. CASE SCENARIO:
• A 5-year-old girl child presented with abnormal patch of hair since 2 years of age.
Her parents noticed a single patch of curling and coiling of hair along with altered
texture over the left side of scalp. Her parents felt the patch to be unruly and
unsightly and hence attempted repeated tonsuring. In spite of this, the patch of
hair remained the same.
• Birth and development history of the child was normal.
• Her family members did not have similar complaints.

34. Examination:
• solitary circumscribed patch of size 6×4 cm
• left frontoparietal region of scalp.
• hair over the patch had an altered texture, was lighter in color, thinner, tightly
coiled, and curled giving an unkempt appearance.
• The skin over the patch was apparently normal.
• Examination of rest of the scalp, teeth and nails were also normal.
• There was no evidence of palmoplantar keratoderma and evidence of any
epidermal nevus elsewhere.
• Ophthalmic and cardiac evaluation did not reveal any abnormality.

36. 3.WOOLLY HAIR:
• Tightly curled hair
• Sheep’s wool: orthocortex and paracortex
• Human hair ; mainly paracortex.
• 4 types: hereditary, familial, woolly hair nevus, symmetrical circumscribed
allotrichia.
• Associations: PPK, keratosis pilaris atrophicans faciei,Noonan’s syndrome,
carvajal syndrome, Cardiofaciocutaneous syndrome, Naxos disease,
keratosis follicularis spinulosa decalvans.
• HAIR MOUNT: non specific.

38. HEREDITARY WOLLY HAIR FAMILIAL WOLLY HAIR
AD AR
NOT ASSOCIATED WITH
HYPOTRICHOSIS
HYPOTRICHOSIS +
VARIABLE HAIR COLOR SPARSE ,THIN ,SHORT
A/W-CARVAJAL/NAXOS LPAR6, LIPH GENE

39. • DERMATOSCOPY:
• Hair shafts resembling a crawling snake with short wave cycles.
• Broken hair shafts which correspond to increased fragility of hair shafts
due to longitudinal twisting.

41. Woolly hair nevus:
• Discrete area of tightly curled hair.
• Otherwise normal scalp.
• Sporadic.
• Normal growth/slower growth.
• Birth/ before 18 months of age.
• 50% associated with linear naevi.
• Epidermal naevi: neck, arms or trunk
• Neurological defects, ocular abnormalities, bone disorders and
mesodermal defects.

42. PILI BIFURCATI AND PILI MULTIGEMINI:
• Hair shafts from same papilla.
• Irregular configuration,longitudinal grooving, areas of bifurcation and
re-adhesion of shafts.
• PILI BIFURCATI: protein deficiency and mosaic trisomy 8 syndrome.
• PILI MULTIGEMINI: cleidocranial dysostosis, trichorhinophalangeal
syndrome.
• Along jaw lines.

43. LOOSE ANAGEN HAIR SYNDROME:
• Anagen hairs- loosely anchored and easily pulled from scalp.
• Fair-haired, girls , 2-9 years
• Unruly, uneven, patchy, never needs a ‘cut’.
• Stiff uncombable hair/excessive shedding of hair.
• Hair pull test: positive
• HAIR MOUNT: ruffling of cuticle adjacent to anagen bulb, ‘floppy sock
appearance’, twists and grooves .
• Associations: ectodermal dysplasia, coloboma,EB,Noonan syndrome

44. Diagnostic criteria:
• Tosti et al:
1. Positive pull test with painless extraction of atleast 10 LAH
2. Presence of atleast 80% LAH on trichogram, revised to 70%.

46. CONGENITAL HAIR SHAFT DISORDERS WITH INCREASED
FRAGILITY AND BREAKAGE:
• MONILETHRIX
• PILI TORTI
• TRICHORRHEXIS NODOSA
• TRICHOTHIODYSTROPHY
• TRICHORRHEXIS INVAGINATA

47. CONGENITAL TRICHORRHEXIS NODOSA:
• Sporadic/familial.
• ARGINOSUCCINIC ACIDURIA: arginosuccinic lyase deficiency., mental
retardation, elevated levels in urine, blood, CSF, FTT, lethargy,coma.
• Also reported in citrullinemia
• Associated with: Menkes kinky hair syndrome, 20 nail dystrophy,
biotinidase deficiency, trichohepatic-enteric syndrome.

48. CASE SCENARIO:
• 5-year-old boy presents with his mother, who reports that whenever he has a fever
and has to lie in bed for a few days, his hair breaks off from friction of his head lying
on the pillow. Following a recent febrile episode, he comes in with short, uneven,
broken hair. His mother also reports that he has always had dry skin and ‘‘does not
do well’’ in the sun. The patient’s medical history includes mild mental and
developmental impairment. A tug test is positive, indicating hair fragility. With
polarizing microscopy the hair has a banded or ‘‘tiger tail’’ appearance . The hair is
sent for amino acid analysis.

50. TRICHOTHIODYSTROPHY
• AR
• 3 different gene mutations: XPD,XPB,TTDA
• Cystine deficient brittle hair.
• Phenotypes: brittle hair only to neuroectodermal symptom complex.
• Short, fragile hair
• Photosensitivity, ichthyosis, intellectual impairment, decreased fertility, short
stature, immunodeficiency.
• HAIR MOUNT: undulating ,wavy outline, trichoschisis fractures, TN like
fractures, ribboning
• POLARIZING MICROSCOPY: alternating bright and dark( tiger tail) bands.
• AMINO ACID ANALYSIS: reduced cystine content to less than half of normal.

51. DERMATOSCOPY:
• Tiger tail pattern not visible on dermatoscopy
• Non-homogenous structure of “grains and sand” and slightly wavy
contour.

53. PILI TORTI:
• Spangled appearance due to unequal reflection of light from twisted
surface.
• Patchy hair breakage and coarse stubble –occiput ,temporal areas
• Eyebrows and eyelashes involved
• Isoated.
• Asscoated with: neurological/ectodermal disorders
• why? Irregularity in IRS/ Reactive oxygen species secondary to
mitochondrial dysfunction.
• LIGHT MICROSCOPY: flattened hair twisted at 180 degrees along its axis at
irregular intervals and in groups of (3-10). Without mounting media

55. PILI TORTI:
• Acquired: retinoids, anorexia nervosa
• DERMATOSCOPY: Hair shafts with sharp bending at irregular
intervals.

57. Bjornstad syndrome:
• AR
• Pili torti + b/l congenital SNHL.
• Before 2nd yar of life
• Severity of hair involvement directly correlates with degree of hearing
loss.
• BCSIL gene mutation
• Pili torti improves with age.

58. MENKES DISEASE:
• Developmental and neurological impairment
• Connective tissue disorders
• Tortuous blood vessels
• Hair changes
• Stubby, coarse, sparse and hypopigmented hair.
• Steel wool
• X-linked ATP7A gene.
• Normal copper levels needed for disulphide bonds hair keratin

61. TRICHORRHEXIS INVAGINATA:
• NETHERTON SYNDROME: trichorrhexis invaginata + ichthyosis linearis
circumflexa +atopic diathesis
• Erythroderma, FTT
• Eczema like eruptions,AD,asthma, allergic rhinitis,angioedema
,urticaria
• HAIR: eyebrow/limb hair- bamboo hair
• HAIR MOUNT: intussusceptions resembling ball and cup joints of
bamboo joints . Cup portion= proximal, ball portion=distal

63. TRICHOSCOPY:
• Hair breakage with ball shaped nodes,invaginations and golf-tee
endings
• EYEBROWS: bamboo hairs, golf-tee hairs, matchstick hairs

66. CASE SCENARIO
• Two siblings aged 24 and 21 years, born of nonconsanguineous
marriage, presented with progressive, diffuse hair loss and thinning of
hair over the scalp since 14 years and 8 years, respectively. The
complaints were not associated with seasonal variation or trauma to
the hair. There was history of similar complaints in the father.

67. Examination
• sparse hair over the axillae and scalp involving the frontoparietal and
temporal areas with relative sparing of the occipital area.
• Multiple keratotic papules were noted over the nape of the neck and
the dorsal aspect of the forearms bilaterally.
• TRICHOSCOPY: hairs over the occipital region and axillae revealed hair
shafts having uniform elliptical nodes with intermittent constrictions
and bent regularly at multiple locations along with a majority of
broken hair

69. MONILETHRIX (Necklace hair):
• AD
• Mutation of type 2 basic keratin hHb1 and hHb6
• AR variant – Dsg 4 mutation ,a/w localised hypotrichosis, affected hairs
have perifollicular papules caused by ingrown hairs.
• Beaded hair
• Naked eye
• Scalp mainly occipital , entire body hair can be affected.
• Keratosis pilaris on shoulder and upper back
• Koilonychia, brittle nails, syndactyly, juvenile cataracts, decreased visual
fields and dental lesions
• Improve with puberty,pregnancy,OCP

71. • Severity varies within family.
• DERMATOSCOPY: hair shaft beading, elliptical nodes, regularly
separated by narrow internodes(sites of fracture)
• REGULARLY BENDED RIBBON SIGN: regular bends at multiple
locations with aa tendency to curve in different directions.
• PSEUDOMONILETHRIX: irregular intermittent constrictions,presence
of medulla, absence of ribbon sign.
• AR monilethrix: internodes are more numerous and causes severe
breakage.

77. REFERENCES
1. Rakowska, Adriana, Monika Slowinska, Elzbieta Kowalska-Oledzka, and Lidia Rudnicka.
“Trichoscopy in Genetic Hair Shaft Abnormalities.” Journal of Dermatological Case Reports 2, no.
2.
2. Mubki, Thamer, Lidia Rudnicka, Malgorzata Olszewska, and Jerry Shapiro. “Evaluation and
Diagnosis of the Hair Loss Patient.” Journal of the American Academy of Dermatology 71, no. 3
(September 2014): 415.e1-415.e15.
3. Miteva, Mariya, and Antonella Tosti. “Dermatoscopy of Hair Shaft Disorders.” Journal of the
American Academy of Dermatology 68, no. 3 (March 2013): 473–81.
4. Mirmirani, Paradi, Kathie P. Huang, and Vera H. Price. “A Practical, Algorithmic Approach to
Diagnosing Hair Shaft Disorders: A Practical, Algorithmic Approach to Diagnosing Hair Shaft
Disorders.” International Journal of Dermatology 50, no. 1 (January 2011): 1–12.
5. Rook’s textbook of Dermatology,9th edition
6. Dermatology, 4th edition, Jean L. Bolognia