HAIR DEFECTS and DIFFERENTIAL DIAGNOSIS in relation to oral and maxillofacial pathology.

1. Hair defects and
Differential
Diagnosis
Dr Muhammed Hazm (DMD)

2. HAIR
• Human hair is an appendage which grows from follicles, tube
like sacs in the scalp or skin containing the hair root.
• is a non-living fiber comprised of keratinized protein. Within
the hair follicle cells are produced. These cells mature in an
upward moving process through the follicle. This maturing
process is known as keratinization.
• During keratinization cells absorb keratin, a fibrous protein. As
the cells continue to move upward they lose their nucleus and
die off, producing the non-living keratinized cells (appendage)
that emerge from the scalp.

3. HAIR COMPOSITION
• Hair is comprised of many contributing factors. Proteins, raw
elements, amino acids and bonds work together in forming
hair fiber. The dominant contributor in the composition of hair
is protein, accounting for 91 percent of hair fiber.
• Amino acids, the building blocks of protein, are made up of
COHNS elements, (Carbon, Oxygen, Hydrogen, Nitrogen and
Sulfur).

4. Trichothiodystrophy
• Trichothiodystrophy or TTD is a heterogeneous group
disorders characterized by short, brittle hair with low-
sulphur content.
• TTD syndromes are numerous syndromes affecting
mainly organs derived from the neuroectoderm.
• Clinical description
characterized by brittle and fragile hair, often
combined with growth retardation and intellectual
deficit, congenital ichthyosis and nail abnormalities.
The abnormalities are usually obvious at birth, with
variable clinical expression.

5. Trichothiodystrophy
• Diagnostic methods
short, unruly, brittle hair, with alternating dark and light bands
under polarizing microscopy (tiger-tail pattern), trichoschisis
(or trichorrhexis), and an absent or defective cuticle visualized
by scanning electron microscopy.
• Differential diagnosis
congenital alopecias.

6. Bazex–Dupré–Christol
syndrome
• rare geno-dermatosis with a predisposition to early-onset
basal cell carcinomas. (X-linked dominant)
• So far, 143 cases have been reported
• Clinical description
manifests during the neonatal period or during infancy.
 It is characterized by hypotrichosis, hypohidrosis, milia
and basal cell carcinomas of early onset.
Hypotrichosis affects the scalp and sometimes the
eyebrows.
Additional common features include basal cell
hamartomas, trichoepitheliomas and, in very rare cases,
atopy, keratosis pilaris, ichthyosis, arachnodactyly with
joint hyperlaxity , osteochondritis, deafness and learning
difficulties.

7. Bazex–Dupré–Christol
syndrome
• Differential diagnosis
Gorlin syndrome
Rombo syndrome
and generalized basaloid follicular hamartoma syndrome.
• MANAGEMENT
Management involves photoprotection and early detection of
basal cell carcinomas. Surgical intervention, and sometimes
cryosurgery or topical imiquimod, are indicated for basal cell
carcinomas. Radiotherapy is contraindicated.

8. Menkes kinky hair syndrome
• Menkes disease is characterized by brittle, tangled, sparse, steely or
kinky hair that is often white, ivory, or grey in color.
• Unusual facial features include pudgy cheeks and abnormal
eyebrows.
• Failure to thrive; and deterioration of the nervous system.
Additional signs and symptoms include hypotonia, sagging facial
features, seizures, developmental delay, and intellectual disability.

9. Elejalde syndrome
• Elejalde syndrome is neuroectodermal melanolysosomal
disease.
• Characterized by Silvery hair and CNS dysfunction (eg, seizures,
severe hypotonia, mental retardation)
• The main cutaneous features of Elejalde syndrome include
silver-leaden (silvery) hair and intense tanning after sun
exposure (bronze skin colour on sun-exposed areas).
• DD include: Chédiak-Higashi syndrome & Griscelli syndrome

10. Griscelli syndrome
• Griscelli syndrome (GS) is characterised by silvery grey
sheen of the hair and hypopigmentation of the skin
which can be associated to neurological impairment
• Clinical description
silvery grey sheen of the hair and light-coloured skin
Psychomotor retardation
Cytotoxic defects
Differential diagnosis
Chediak-Higashi syndrome

11. Chediak-Higashi syndrome
• Chediak-Higashi syndrome (CHS) is an extremely
rare form of partial albinism that’s accompanied
by problems with the immune and nervous
systems.
• This specific type of albinism also causes vision
problems such as sensitivity to light, reduced
sharpness, and involuntary eye movement.
Clinical description:
• brown or light-colored hair with a silvery sheen
• light colored eyes
• white or grayish skin tone
• nystagmus (involuntary eye movements)
• frequent infections in the lungs, skin, and
mucous membranes

12. Hypohidrotic Ectodermal
Dysplasia
• Hypohidrotic Ectodermal Dysplasia (HED) is a Rare Genetic
Condition Characterized by. a reduced ability to sweat
(hypohidrosis) missing teeth, (hypodontia) and. fine sparse hair
(hypotrichosis)
• Clinical description:
• distinctive facial features including a prominent forehead, thick
lips, and a flattened bridge of the nose. thin, wrinkled, and dark-
colored skin around the eyes; chronic skin problems such as
eczema; and a bad-smelling discharge from the nose (ozena).

13. Trichotillomania
• Hair-pulling disorder, is a mental disorder that involves recurrent,
irresistible urges to pull out hair from your scalp, eyebrows or other
areas of your body, despite trying to stop.
• Significant distress or problems at work, school or in social
situations related to pulling out your hair
• Medical complications
dermatological (scalp infection , lack of hair regrowth , colour and
textural changes), orthopaedic (carpal tunnel syndrome) and dental
(gingivitis and attrition due to bruxism)