Hair, Nails and Mouth

Question 1

Definition of Pili torti.

Name 4 genoderms with Pili torti.

Answer 1

twisting and flattening of the hair fibers

Bjornstad Syndrome (BCSIL)
Crandall Syndrome
Menkes Disease (ATPA7)
Netherton’s Syndrome

Question 2

Define Trichorrhexis Nodosa.

Name 5 genoderms with trichorrhexis nodosa.

Answer 2

Incomplete fracture of the hair shaft with frayed ends (two brooms)

“TACK + others”
Trichothiodystrophy and Traumatic hair care
Arginosuccinic aciduria
Citrullinemia (arginocyccinate synthetase defect)
Kinky Hair (Menke’s - ATPA7)

Others = Nethertons, metabolic disorders including zinc and biotinidase deficiency

Question 3

How big are hair follicles?

Answer 3

Terminal Hairs > 0.06 mm
Intermediate hairs 0.03 - 0.06 mm
Vellus hairs < 0.03 mm

Question 4

What hair shaft abnormalities have increased fragility?

Answer 4

6Ts

Trichorrhexis invaginata
Trichorrhexis nodosa
monileThrix
piliTorti
Trichotrhiodystrophy
Trichoschisis
*Also Bubble Hair!

Question 5

Differential diagnosis of appearance of “beads” on a hair shaft?

Answer 5

Trichorrhexis invaginata, trichorrhexis nodosa, monilethrix, black piedra, nits, hair casts

Question 6

What is the hair finding seen in arginosuccinic aciduria?

Answer 6

Trichorrhexis nodosa

AR mutation in ASL gene (arginosuccinate lyase deficiency) with labs showing increased citrulline in urine/serum and decreased serum arginine; Hair normal at birth; also has lethargy, seizures, hepatomegaly, ataxia

Question 7

Terry’s nails are seen in which conditions (3)?

Answer 7

Diabetes
Congenital heart defects
Cirrhosis

Question 8

What are the layers of the hair follicle from the inside –> outside?

Answer 8

Medulla
Cortex
Hair shaft Cuticle
Inner root sheath cuticle
Huxley's Layer
Henle Layer
Outer root sheath
Glassy Membrane

Question 9

Mothers of patients with trichothiodystrophy are at risk of…

• • Hair is deficient in…
• • Mutation and Inheritance

Answer 9

HELLP and preeclampsia

• • Hair is sulfur-deficient
• • ERCC2 or ERCC3, GTHF2H5 (AR)

Question 10

Pili Torti is seen in which conditions (4)?

Answer 10

Bjornstad
Crandall
Menkes
Nethertons

Question 11

What is pili annulati?

– Trichoscopy findings?

Answer 11

Alternating bright/dark bands in hair shaft with reflected light; the light bands are due to air-filled cavities with an increased light reflex (on microscopy they appear paradoxically dark); can be sporadic or familial and can have normal length hair.

Question 12

What is the name for white plaque on the buccal mucosa from biting it?

Answer 12

Morsicatio buccarum

Question 13

What are the features of Melkersson-Rosenthal syndrome?

Answer 13

• • Facial nerve palsy
• • Fissured tongue (nonpainful furrows with corrugated appearance)
• • Orofacial granulomatosis (cheilitis granulomatosis) – persistent non-tender enlargement of lips and/or face

Question 14

What is median rhomboid glossitis?

– Cause?

Answer 14

Diamond / oval-shaped erythematous, smooth plaque on posterior dorsal tongue due to C.albicans

Question 15

What looks like “snail tracks” of pustules in the mouth? What is it associated with?

Answer 15

Pyostomatitis vegetans

– IBD (Crohn’s and UC)

Question 16

In which conditions do you see red lunulae? Blue lunulae? Triangular lunulae?

Answer 16

Red = alopecia areata, RA, SLE, CHF, carbon monoxide poisoning
Blue = Wilson's disease, drugs, PUVA, argyria
Triangular = Nail Patella Syndrome

Question 17

In which conditions do you see dorsal pterygium?

Answer 17

Lichen planus, epidermolysis bullosa, TEN, GVHD, cicatricial pemphigoid

Question 18

Which part of the hair follicle keratinizes first?

Answer 18

Henle’s layer of the inner root sheath. Keratinizes with trichohyaline granules and is shed at the layer of the isthmus.