Chapter 89 - Hair Shaft Disorders

Question 1

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

INHERITANCE PATTERN AND GENE DEFECT
Autosomal recessive
Early onset: holocarboxylase synthetase gene (HLCS)
Late onset: biotinidase gene (BTD)

Answer 1

Multiple carboxylase deficiency

Question 2

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

INHERITANCE PATTERN AND GENE DEFECT
Autosomal recessive
TTC37 gene

Answer 2

Trichohepatoenteric syndrome (THE)

Question 3

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

INHERITANCE PATTERN AND GENE DEFECT
X-linked recessive
ATP7A copper-transporter gene defect

Answer 3

Menkes syndrome

Question 4

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

INHERITANCE PATTERN AND GENE DEFECT
X-linked dominant ectodermal dysplasia
PORCN (porcupine O-acyltransferase) mutation

Answer 4

Goltz syndrome

Question 5

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

INHERITANCE PATTERN AND GENE DEFECT
Autosomal recessive
SPINK5 (serine peptidase inhibitor, Kazal type 5) gene

Answer 5

Netherton syndrome

Question 6

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

INHERITANCE PATTERN AND GENE DEFECT
Autosomal dominant
KRT74 (keratin 74) gene

Answer 6

Wooly hair

Question 7

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

INHERITANCE PATTERN AND GENE DEFECT
Autosomal recessive
There are 4 known gene mutations:
MPLKIP (M-phase specific PLK1 interacting protein), ERCC2 (ERCC excision repair 2), ERCC3 (ERCC excision repair 3), GTF2H5 (general transcription factor IIH subunit 5)

Answer 7

Trichothiodystrophy (TTD)

Question 8

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

CLINICAL FEATURES
Hypotonia, failure to thrive, seizures, TN, and generalized rash

Answer 8

Multiple carboxylase deficiency

Question 9

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

CLINICAL FEATURES
Intractable diarrhea, facial dysmorphism, intrauterine growth restriction, immune system dysfunction, and hair that is wooly or easily removable

Answer 9

Trichohepatoenteric syndrome (THE)

Question 10

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

CLINICAL FEATURES
Hypotonia, failure to thrive, seizures, developmental delay, pale skin, and sparse, coarse, lighter-colored hair

Answer 10

Menkes syndrome

Question 11

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

CLINICAL FEATURES
Craniofacial, skeletal, ocular, renal, and GI involvement can occur, as well as hair shaft abnormalities

Answer 11

Goltz syndrome

Question 12

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

CLINICAL FEATURES
Atopic diathesis, severe dehydration, growth retardation, ichthyosis linearis circumflexa, and hair shaft abnormalities, including trichorrhexis nodosa, trichorrhexis invaginata, and pili torti

Answer 12

Netherton syndrome

Question 13

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

CLINICAL FEATURES
Hair shaft disorder with fine, tightly curled hair; can display associated structural anomalies such as trichorrhexis nodosa

Answer 13

Wooly hair

Question 14

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

CLINICAL FEATURES
Severe forms may be associated with developmental delay, short stature, dry skin, abnormal toenails and fingernails, congenital cataracts, and increased risk for respiratory tract infections; milder forms can be limited to hair changes and are associated with both trichorrhexis nodosa and trichoschisis

Answer 14

Trichothiodystrophy (TTD)

Question 15

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

TREATMENT AND PROGNOSIS
Most features, including hair symptoms, will resolve with biotin supplementation

Answer 15

Multiple carboxylase deficiency

Question 16

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

TREATMENT AND PROGNOSIS
Supportive care; total parenteral nutrition (TPN) for nutrition; prognosis poor with main complications that include infection and severe liver disease

Answer 16

Trichohepatoenteric syndrome (THE)

Question 17

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

TREATMENT AND PROGNOSIS
Early copper supplementation may be of some benefit, but most patients will not live past age 3 years

Answer 17

Menkes syndrome

Question 18

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

TREATMENT AND PROGNOSIS
Corrective treatment and medical management of various associated anomalies

Answer 18

Goltz syndrome

Question 19

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

TREATMENT AND PROGNOSIS
No known cure, but intravenous immunoglobulin has become treatment of choice along with supportive care

Answer 19

Netherton syndrome

Question 20

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

TREATMENT AND PROGNOSIS
No effective treatments have been found; avoidance of harsh chemicals and application of oils can make hair more manageable

Answer 20

Wooly hair

Question 21

TABLE 89-1
Syndromes Associated with Trichorrhexis Nodosa

CONDITION

TREATMENT AND PROGNOSIS
No effective treatments have been found; avoidance of trauma may prevent further hair breakage or loss

Answer 21

Trichothiodystrophy (TTD)

Question 22

TABLE 89-3
Inherited Syndromes of Trichothiodystrophy

CONDITION

CLINICAL FEATURES
Brittle hair, brittle nails, intellectual deficiency, decreased fertility, short stature, ataxia, seizures, and microcephaly

Answer 22

BIDS (Amish brittle hair syndrome)

Question 23

TABLE 89-3
Inherited Syndromes of Trichothiodystrophy

CONDITION

CLINICAL FEATURES
Brittle hair, brittle nails, intellectual deficiency, decreased fertility, short stature, ichthyosis, ectodermal dysplasia

Answer 23

IBIDS (Tay syndrome)

Question 24

TABLE 89-3
Inherited Syndromes of Trichothiodystrophy

CONDITION

CLINICAL FEATURES
Brittle hair, brittle nails, intellectual deficiency, decreased fertility, short stature, ichthyosis, photosensitivity

Answer 24

PIBIDS

Question 25

TABLE 89-3 Inherited Syndromes of Trichothiodystrophy CONDITION CLINICAL FEATURES Brittle hair, brittle nails, intellectual deficiency, decreased fertility, short stature, photosensitivity

Answer 25

PBIDS

Question 26

TABLE 89-3 Inherited Syndromes of Trichothiodystrophy CONDITION CLINICAL FEATURES Brittle hair, brittle nails, intellectual deficiency, decreased fertility, and ocular symptoms such as retinopathy

Answer 26

Sabinas syndrome

Question 27

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT X-linked recessive ATP7A gene encoding copper transporter

Answer 27

Menkes syndrome

Question 28

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT X-linked dominant Xq24-27

Answer 28

Bazex syndrome

Question 29

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT Autosomal dominant Chromosome 10q26.13 FGFR2 gene

Answer 29

Beare syndrome

Question 30

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT Autosomal recessive Chromosome 2q35 BCS1L gene

Answer 30

Björnstad syndrome

Question 31

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT Autosomal recessive

Answer 31

Crandall syndrome

Question 32

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT X-linked dominant PORCN gene

Answer 32

Goltz syndrome (focal dermal hypoplasia)

Question 33

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT Autosomal recessive Chromosome 5q32 SPINK5 gene, serine protease inhibitor

Answer 33

Netherton syndrome

Question 34

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT Autosomal dominant Chromosome 3q28 TP63 gene

Answer 34

Rapp-Hodgkin syndrome

Question 35

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT X-linked recessive EDA gene

Answer 35

Ronchese syndrome

Question 36

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION INHERITANCE PATTERN AND GENE DEFECT Autosomal recessive Chromosome 19q13 ERCC2/XPD gene

Answer 36

Trichothiodystrophy (TTD1), photosensitive type

Question 37

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Hypotonia, failure to thrive, seizures, developmental delay, pale skin, and sparse, coarse, lighter-colored hair

Answer 37

Menkes syndrome

Question 38

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Follicular atrophoderma, facial milia, sweating disorders, and congenital hypotrichosis with pili torti

Answer 38

Bazex syndrome

Question 39

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Alopecia after puberty, decreased beard and body hair, and pili torti

Answer 39

Beare syndrome

Question 40

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Sensorineural deafness and pili torti

Answer 40

Björnstad syndrome

Question 41

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Sensorineural deafness, hypopituitarism, and congenital hypotrichosis with pili torti

Answer 41

Crandall syndrome

Question 42

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Facial abnormalities (asymmetry of the face, narrow nasal bridge), short stature, skeletal features (adactyly, claw hands, clinodactyly), cognitive impairment, CNS (seizures, microcephaly), ocular abnormalities (heterochromia, aniridia, colobomas), malformation of ears, atopic dermatitis, hypohidrosis, alteration in pigment, photosensitivity, nail changes (V-nicking, micronychia), GI features (omphalocele, gastric polyps), genitourinary findings (horseshoe kidney, hypoplasia, or absent kidney) hair shaft disorders (pili torti, pili trianguli et canaliculi, trichorrhexis nodosa)

Answer 42

Goltz syndrome (focal dermal hypoplasia)

Question 43

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Ichthyosis linearis circumflexa, atopic diathesis, and hair shaft abnormalities (pili torti, trichorrhexis nodosa, trichorrhexis invaginata)

Answer 43

Netherton syndrome

Question 44

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Anhidrotic ectodermal dysplasia, cleft lip and palate, hypodontia, nail abnormalities, hypospadia, and pili torti

Answer 44

Rapp-Hodgkin syndrome

Question 45

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Ichthyosis, keratosis pilaris, nail dystrophy, dental abnormalities, leukonychia, and pili torti

Answer 45

Ronchese syndrome

Question 46

TABLE 89-4 Syndromes Associated with Pili Torti CONDITION CLINICAL FEATURES Ichthyosiform erythroderma, mental delay, short stature, brittle nails, brittle hair (torti pili or trichorrhexis nodosa)

Answer 46

Trichothiodystrophy (TTD1), photosensitive type

Question 47

TABLE 89-12 Summary of Hair Shaft Disorders Associated with Hair Breakage VS Unruly Hair Trichorrhexis nodosa (TN)

Answer 47

Associated with Hair Breakage

Question 48

TABLE 89-12 Summary of Hair Shaft Disorders Associated with Hair Breakage VS Unruly Hair Trichoschisis & trichothiodystrophy (TTD)

Answer 48

Associated with Hair Breakage

Question 49

TABLE 89-12 Summary of Hair Shaft Disorders Associated with Hair Breakage VS Unruly Hair Pili torti

Answer 49

Associated with Hair Breakage

Question 50

TABLE 89-12 Summary of Hair Shaft Disorders Associated with Hair Breakage VS Unruly Hair Trichorrhexis invaginata

Answer 50

Associated with Hair Breakage

Question 51

TABLE 89-12 Summary of Hair Shaft Disorders Associated with Hair Breakage VS Unruly Hair Monilethrix

Answer 51

Associated with Hair Breakage

Question 52

TABLE 89-12 Summary of Hair Shaft Disorders Associated with Hair Breakage VS Unruly Hair Uncombable hair syndrome (pili trianguli et canaliculi; spun glass hair)

Answer 52

Unruly Hair

Question 53

TABLE 89-12 Summary of Hair Shaft Disorders Associated with Hair Breakage VS Unruly Hair Marie-Unna hereditary hypotrichosis

Answer 53

Unruly Hair

Question 54

TABLE 89-12 Summary of Hair Shaft Disorders Associated with Hair Breakage VS Unruly Hair Wooly hair

Answer 54

Unruly Hair

Question 55

TABLE 89-12 Summary of Hair Shaft Disorders Associated with Hair Breakage VS Unruly Hair Hereditary hypotrichosis simplex (HHS)

Answer 55

Unruly Hair

Question 56

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Acquired–external trauma Inherited—autosomal dominant Congenital—ectodermal dysplasias, or metabolic disorders

Answer 56

Trichorrhexis nodosa (TN)

Question 57

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE May occur from external trauma or secondary to TTD

Answer 57

Trichoschisis

Question 58

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Congenital (autosomal recessive; ERCC2, ERCC3, p8, C7Orf11); photosensitive types (XPD, XPB, TTDA genes); nonphotosensitive types (TTDN1)

Answer 58

Trichothiodystrophy (TTD)

Question 59

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Acquired—anorexia nervosa, severe malnutrition, oral retinoid treatment, inflammatory scalp conditions Isolated cases may be autosomal dominant, autosomal recessive, or sporadic Menke syndrome is X-linked recessive

Answer 59

Pili torti

Question 60

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Isolated cases; inherited (as in Netherton syndrome–autosomal recessive disorder; SPINK5)

Answer 60

Trichorrhexis invaginata

Question 61

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Autosomal dominant inheritance (KRT81, KRT83, KRT86) Rarely, autosomal recessive (DSG4)

Answer 61

Monilethrix

Question 62

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Autosomal dominant Acquired forms are common in dark, curly haired individuals

Answer 62

Uncombable hair syndrome (pili trianguli et canaliculi; spun glass hair)

Question 63

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Autosomal dominant condition (U2HR)

Answer 63

Marie-Unna hereditary hypotrichosis

Question 64

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Autosomal dominant (KRT71) and autosomal recessive (type I:P2RY5 or LPAR6, type II: LIPH), as well as sporadic forms

Answer 64

Wooly hair

Question 65

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE 4 Autosomal dominant subtypes (HYPT1-4) and 6 autosomal recessive subtypes (HYPT 5-10)

Answer 65

Hereditary hypotrichosis simplex (HHS)

Question 66

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Sporadic and inherited condition (autosomal dominant; K6HF gene)

Answer 66

Loose anagen syndrome (LAS)

Question 67

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER ETIOLOGY/RISK FACTORS/MODE OF INHERITANCE Sporadic, or inherited (autosomal dominant, single defect on chromosome 12q24.33)

Answer 67

Pili annulati

Question 68

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Brittle, lusterless hair with white nodular swellings along hair shaft

Answer 68

Trichorrhexis nodosa (TN)

Question 69

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Brittle, easily broken hair with short, brittle eyebrows and eyelashes; clinical and cutaneous features of this disorder may accompany hair findings

Answer 69

Trichoschisis & trichothiodystrophy (TTD)

Question 70

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Brittle, dry, and spangled from uneven light reflections

Answer 70

Pili torti

Question 71

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Dry, lusterless, brittle appearance with increased fragility. Eyebrows and eyelashes are also affected

Answer 71

Trichorrhexis invaginata

Question 72

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Short, dry, lusterless hair. Beaded hairs emerge from keratotic follicular papules. Eyebrows, eyelashes, and body hair may be affected

Answer 72

Monilethrix

Question 73

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Unruly, frizzy, dry hair. No increased fragility. Eyebrows, eyelashes, and body hair are not affected

Answer 73

Uncombable hair syndrome (pili trianguli et canaliculi; spun glass hair)

Question 74

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION - Sparse, absent hair; regrowth may be coarse, wiry and unruly in childhood, but hair loss may recur at puberty - Total alopecia may be present - Associated milia-like lesions and follicular hyperkeratosis

Answer 74

Marie-Unna hereditary hypotrichosis

Question 75

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Tight curls with an average diameter of 0.5 cm; brittle hair with no increased fragility. Trichorrhexis nodosa may be seen

Answer 75

Wooly hair

Question 76

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Diffusely sparse, fine, short hairs. Follicular miniaturization and inflammatory alopecia; body hair may be involved

Answer 76

Hereditary hypotrichosis simplex (HHS)

Question 77

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Hair is diffusely sparse, and easily pulled from the scalp without pain. Individuals rarely need a haircut. No increased hair fragility, but hair may be difficult to comb. This has 3 phenotypes

Answer 77

Loose anagen syndrome (LAS)

Question 78

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL MANIFESTATION Characterized by alternating light and dark bands; hair has a “speckled” appearance

Answer 78

Pili annulati

Question 79

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS Light and electron microscopy: splayed paint brush bristle appearance

Answer 79

Trichorrhexis nodosa (TN)

Question 80

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS - Polarized light microscopy: “tiger tail” hair - Genetic testing and amino acid analysis of the hair shaft: low cysteine and sulfur content (<50% of normal)

Answer 80

Trichoschisis & trichothiodystrophy (TTD)

Question 81

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS Light microscopy: flattened, twisted hair occurring at irregular intervals along the hair shaft

Answer 81

Pili torti

Question 82

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS - Light microscopy: intussusception of the distal hair shaft into the proximal portion; “golf tee” deformity - Trichoscopy may be helpful

Answer 82

Trichorrhexis invaginata

Question 83

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS - Light microscopy: “pearl necklace” appearance with areas of knots and narrowing along the hair shaft - Trichoscopy: dilated nodes and constricted internodes

Answer 83

Monilethrix

Question 84

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS Electron microscopy: triangular/kidney-shaped cross-sectional appearance with longitudinal grooving

Answer 84

Uncombable hair syndrome (pili trianguli et canaliculi; spun glass hair)

Question 85

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS - Pull test: multiple anagen hairs - Scalp biopsy: reduced number of follicles and no evidence of fibrosis - Light and electron microscopy: irregular twisting of the hair, with longitudinal ridging and peeling of the cuticle

Answer 85

Marie-Unna hereditary hypotrichosis

Question 86

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS - Clinical presentation - Light microscopy and scalp biopsy are normal

Answer 86

Wooly hair

Question 87

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS - Light and electron microscopy: focal areas of defect in cuticle - Scalp biopsy: decreased number of follicles

Answer 87

Hereditary hypotrichosis simplex (HHS)

Question 88

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS - Pull test: increased anagen hairs - Light microscopy: anagen hairs with distorted bulbs, cuticles have a “floppy sock” appearance - Trichogram: 70% anagen hairs

Answer 88

Loose anagen syndrome (LAS)

Question 89

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER DIAGNOSIS - Trichoscopy: alternating white and dark bands - Light microscopy: reversal of white and dark bands - Electron microscopy: shows a cobblestone appearance of the cuticle

Answer 89

Pili annulati

Question 90

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE - Acquired type may improve with removal of external trauma - Inherited type may have varying courses

Answer 90

Trichorrhexis nodosa (TN)

Question 91

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Acquired type improves with removal of external trauma

Answer 91

Trichoschisis

Question 92

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Course depends on the clinical phenotype

Answer 92

Trichothiodystrophy (TTD)

Question 93

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Most cases show spontaneous improvement after puberty

Answer 93

Pili torti

Question 94

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Milder phenotypes of Netherton syndrome may improve with age; severe phenotypes have a persistent and severe course

Answer 94

Trichorrhexis invaginata

Question 95

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Variable; hair often improves with age

Answer 95

Monilethrix

Question 96

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Usually resolves after puberty

Answer 96

Uncombable hair syndrome (pili trianguli et canaliculi; spun glass hair)

Question 97

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Persistent

Answer 97

Marie-Unna hereditary hypotrichosis

Question 98

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Less pronounced in adulthood

Answer 98

Wooly hair

Question 99

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Complete baldness by age 30 years

Answer 99

Hereditary hypotrichosis simplex (HHS)

Question 100

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Resolves with age; when it presents late, hair loss more likely to be persistent

Answer 100

Loose anagen syndrome (LAS)

Question 101

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER CLINICAL COURSE Clinical features become more prominent with age; course is benign

Answer 101

Pili annulati

Question 102

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Trichorrhexis nodosa (TN)

Answer 102

For acquired TN, avoidance of harsh chemical treatments

Question 103

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Trichoschisis & trichothiodystrophy (TTD)

Answer 103

For acquired trichoschisis, reducing hair manipulation is helpful TTD with systemic effects requires multidisciplinary care

Question 104

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Pili torti

Answer 104

Although no effective treatment, mechanical trauma should be reduced

Question 105

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Trichorrhexis invaginata

Answer 105

Treatment for cutaneous features of Netherton syndrome are available

Question 106

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Monilethrix

Answer 106

Oral retinoids and topical minoxidil. No definitive treatment

Question 107

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Uncombable hair syndrome (pili trianguli et canaliculi; spun glass hair)

Answer 107

Biotin supplementation may be of help. Treatment is generally not necessary

Question 108

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Marie-Unna hereditary hypotrichosis

Answer 108

No known treatment

Question 109

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Wooly hair

Answer 109

No treatment, but harsh chemical and mechanical injury should be avoided

Question 110

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Hereditary hypotrichosis simplex (HHS)

Answer 110

No treatment available

Question 111

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Loose anagen syndrome (LAS)

Answer 111

Gentle hair care, 5% minoxidil

Question 112

TABLE 89-12 Summary of Hair Shaft Disorders MANAGEMENT Pili annulati

Answer 112

Gentle hair care practices; no specific treatment available

Question 113

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER RELATED SYNDROMES & CONDITIONS - Ectodermal dysplasias - Arginosuccinic aciduria - Other metabolic disorders

Answer 113

Trichorrhexis nodosa (TN), Congenital type

Question 114

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER RELATED SYNDROMES & CONDITIONS Menke syndrome

Answer 114

Pili torti

Question 115

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER RELATED SYNDROMES & CONDITIONS Netherton syndrome

Answer 115

Trichorrhexis invaginata

Question 116

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER RELATED SYNDROMES & CONDITIONS May have associated cutaneous, renal, and dental abnormalities

Answer 116

Monilethrix

Question 117

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER RELATED SYNDROMES & CONDITIONS - Ectodermal dysplasia syndrome - Bork syndrome - Multiple epiphyseal dysplasia - Type I neurofibromatosis

Answer 117

Uncombable hair syndrome (pili trianguli et canaliculi; spun glass hair)

Question 118

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER RELATED SYNDROMES & CONDITIONS - Hereditary type - Naxos disease - Carvajal syndrome - Noonan syndrome

Answer 118

Wooly hair

Question 119

TABLE 89-12 Summary of Hair Shaft Disorders DISORDER RELATED SYNDROMES & CONDITIONS - Atopic diseases - Ectodermal dysplasia - Nail-patella syndrome - Neurofibromatosis - Noonan syndrome - Noonan-like syndrome

Answer 119

Loose anagen syndrome (LAS)

Question 120

TABLE 89-12 Summary of Hair Shaft Disorders Related syndromes and conditions associated with wooly hair (4)

Answer 120

- Hereditary wooly hair - Naxos disease - Carvajal syndrome - Noonan syndrome

Question 121

TABLE 89-12 Summary of Hair Shaft Disorders Disorders associated with Noonan syndrome (2)

Answer 121

- Wooly hair - Loose anagen syndrome (LAS)

Question 122

TABLE 89-12 Summary of Hair Shaft Disorders Disorders associated with Neurofibromatosis (2)

Answer 122

- Uncombable hair syndrome - Loose anagen syndrome (LAS)

Question 123

TABLE 89-12 Summary of Hair Shaft Disorders Disorders associated with Ectodermal dysplasia (3)

Answer 123

- Trichorrhexis nodosa (TN) - Uncombable hair syndrome - Loose anagen syndrome (LAS)