Hair Manifestations of

Systemic Disease
Hair changes, including hair loss, color
change, and texture change, can
often be a sign of systemic disease
or medication ingestion
Clinical findings

 Cicatricial hair loss  Non-cicatrical hair loss

 Scarring alopecia
 Telogen effluvium
 Excess hair
 Anagen effluvium
 Hypertrichosis

 Hirsutism  Alopecia areata

 Changes in hair colour/texture

 Silvery hair
 Increased hair fragility
 Gray hair

 Dyspigmentation
 Pili torti

 Corkscrew hairs  Trichorrhexis invaginata

 Kinky hair
 Trichorrhexis nodosa
 Wooly hair
 Trichothiodystrophy
 Systemic Rheumatologic Disease
 Scarring alopecia is a hallmark of discoid lupus.

 Patients also develop dyspigmentation and scarring of

the skin.

 For most patients, discoid lupus is cutaneous only.

 Few patients progress to systemic lupus.

Although not a criteria for dermatomyositis, patients often develop excess body hair initially. Over time,

most patients report thinning of scalp hair, which is likely related to medications.

Refrerence: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 

 Congenital Disorders With Excess Hair

 Hypertrichosis, which simply refers to excess hair, may be

congenital or acquired.

 Congenital forms include hypertrichosis lanuginosa and

Ambras syndrome (Fig).

 Hypertrichosis lanuginosa is a rare inherited disorder in which

lanugo hairs are produced in large quantities over course of life.

 Additionally, excess hair is a nonspecific finding in

chromosomal disorders such as trisomy 18 and Turner

syndrome, and is a feature of some of the chromosome

A 12-year-old male child with
breakage disorders such as Bloom syndrome.
congenital hypertrichosis.
Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 
 Generalized hypertrichosis and synophrys (unibrow) can be a sign of
Cornelia de Lange syndrome.

 This syndrome is characterized by hypertrichosis, cutis marmorata,

hypoplastic genitals, nipples, mental retardation, growth and skeletal
abnormalities, and a characteristic low-pitched growling cry in infancy.

 Many of these children also have recurrent respiratory infections and

gastrointestinal disease. Twenty percent of patients have seizures.

Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 

 Localized excess hair can be a sign of underlying disease.

 The hair collar sign, which is a localized ring of dark hair surrounding a

congenital patch of alopecia, should trigger imaging of the brain or

skull because this can be a sign of neural tissue that may communicate

with the brain.

 Localized hypertrichosis may overlie a primary cutaneous

meningioma. “Faun tail” deformity, localized hypertrichosis over the

lumbar or sacral sign, is often a sign of spina bifida occulta or

diastematomyelia.
The localized hypertrichosis of the forearms in
an 8-year-old female child, with no other
abnormalities.
 Localized hypertrichosis can also be idiopathic as in hypertrichosis

cubiti (excessive hair of elbows) or anterior cervical hypertrichosis (Fig).

Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 

Acquired Disorders With Excess Hair

 There are also acquired conditions that are associated with excess hair
growth, including hypothyroidism, acrodynia (mercury poisoning),
juvenile dermatomyositis, tuberculosis, and porphyrias.

 The most common type of porphyria to cause increased hair is autosomal

recessive erythropoietic protoporphyria, where excess hair growth
usually develops at about 5 years of age.

 Children with porphyria cutanea tarda often develop hair on their face
and hairline. Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 
 Medications can also induce excess hair.

 The most common medications to lead to excess hair are minoxidil, cyclosporin,

diazoxide, phenytoin, anabolic steroids, danazol, penicillamine, psoralens,

streptomycin, testosterone, and valproic acid.

 Application of strong topical steroids have been reported to induce hair at the

application site.

 Hypertrichosis in these cases typically resolves in weeks to months after discontinuing

the medications Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 
Polycystic Ovarian Syndrome

 Polycystic ovarian syndrome (PCOS) is the most common

endocrine disorder among reproductive age women,
characterized by hyperstimulation of ovarian follicles and a
hyperandrogenic state.

 This results in a constellation of symptoms known as

cutaneous hyperandrogenism, defined as hirsutism, acne,
and androgenetic alopecia (AGA) .
Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 
 Polycystic Ovarian Syndrome
 Androgenetic alopecia is also known as female pattern hair

thinning (FPHT), because the majority of patients with

thishair loss pattern have normal androgen levels. FPHT

presents clinically as a widening of the part in a “ Christmas

tree ” pattern that may progress to diffuse thinning of the

scalp through a process called hair miniaturization.

 The scalp hair normally grows in tufts of 3 – 4 follicles, but in

FPHT, the tufts progressively lose hairs until bald spots appear

between hairs (Fig).

 In FPHT, there is also preservation of the frontal hairline (in

contrast to male pattern hair loss) and a negative hair pull Female pattern hair thinning, with “ Christmas
tree ” pattern of non-cicatricial hair loss
test. Clinics in Dermatology (2008) 26 , 296 – 305
 Hirsutism
 Hirsutism is the presence of terminal hairs in females in a

malelike pattern.

 This is often a sign of underlying endocrine abnormality,

particularly androgen excess. The most common cause is the

polycystic ovary syndrome.

 Other causes include hyperandrogenic insulin resistance

acanthosis nigricans syndrome, androgen-secreting tumors, and

androgen drug intake.

 The diagnostic evaluation should include evaluation for ovulatory

dysfunction, adrenal hyperplasia, diabetes, and thyroid hormone

abnormalities Clinics in Dermatology (2008) 26 , 296 – 305

Cicatricial hair lose and excess hair

Reference: Tan S et al. Curr Derm Rep Jan 2017. DOI 10.1007/s13671-017-0169-6
Silvery Hair

 Three syndromes, Chédiak–Higashi, Griscelli, and Elejalde,

are autosomal recessive disorders characterized by an early
silvery sheen to the hair and relative pigment dilution of the
skin.

 Hair color can be the earliest indication of infection and

neurologic problems.

Refrerence: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 

Gray Hair

 Canities (gray hair) has been reported to be a sign of pernicious anemia,

hyperthyroidism, progeria, Werner syndrome, ataxia–telangiectasia,
Rothmund–Thomson syndrome, tuberous sclerosis, neurofibromatosis,
Waardenburg syndrome, and Vogt–Koyanagi syndrome, and of course,
aging.

 Extensive early graying should prompt thorough examination and review

of systems.

Refrerence: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 

 Kwashiorkor/Marasmus
 The leading hair signs of nutrition-related disorders are thin

hair, dyspigmentation (specifically lightening), alopecia, and

decurling and brittle hair.

 Eighty percent of children with kwashiorkor or marasmus

have at least one hair sign, and hypopigmentation and

thinning are most common.

 The flag sign occurs when altering light and dark bands are

visible within single hairs on the scalp (Fig).

A 2-year-old female child with history of

 The lighter colored hairs are thought to be hair growth
during periods of malnutrition, but details of the cause of
this sign and generalized hypopigmentation are not known.
Kwashiorkor demonstrating alternating
patterns of light and dark hair known as
the flag sign
Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 
 Scurvy

 Additionally, other nutritional

deficiencies, including scurvy, lead to

hair changes. “Corkscrew hairs” in

hyperkeratotic follicles are

pathognomonic of scurvy or vitamin C

deficiency (Fig).
The hyperkeratotic papules, corkscrew hairs,
and hemorrhage around hair follicles
associated with scurvy
 Petechiae and subungual hemorrhage

may also be seen.

Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 
 Wooly hair [Fine, tightly curled hairs]

 Wooly hair can be a sign of underlying cardiomyopathy.

 In Naxos disease, wooly hair is a clue to underlying arrhythmogenic right ventricular

cardiomyopathy.

 These patients also develop a palmoplantar keratoderma.

 Similarly, Carvajal syndrome also presents with wooly hair.

 It is characterized by a palmoplantar keratoderma and left ventricular cardiomyopathy.

 Wooly hair in both the diseases is present at birth. Palmoplantar keratoderma develops

with time.

Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 

Changes in hair colour/texture

Reference: Tan S et al. Curr Derm Rep Jan 2017. DOI 10.1007/s13671-017-0169-6
Heavy Metal Poisoning

 Heavy metal poisoning can also lead to alopecia or thinning of hair.

 Because of its toxicity, thallium was originally used as a rat and ant

poison and as a depilatory (now discontinued in the United States).

 Among the distinctive effects of thallium poisoning are loss of hair and

damage to peripheral nerves. Heavy metal poisoning, including lead,

copper, and arsenic, can also lead to loss of hair.

Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 

Zinc and Iron Deficiency

 Decreased levels of both iron and zinc have been associated with
hair loss.

 It is commonly associated with telogen effluvium but has also

been identified in patients with alopecia areata.

 Repleting zinc and iron through supplementation may help the

hair growth environment in both the conditions.
Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 
Medications

 Systemic medications can also lead to hair changes, which suggest systemic disease.

 In general, most hair color change associated with medications leads to hair lightening (imatinib,

cetuximab, acitretin, chloroquine).

 For example, chloroquine has been shown to induce lightening of eyelash and scalp hairs; dasatinib, a

thiazole carboxamide derivative, which is a second-generation tyrosine kinase inhibitor, has been reported

to cause a vitiligo like acquired depigmentation of hair and skin.

 For some people, cyclosporine and etretinate temporarily darken hair.

 Additional medications that have been shown to induce hair color change include p-aminobenzoic acid,

calcium pantothenate, anthralin, chinoform, mephenesin, minoxidil, propofol, valproic acid, and verapamil.

Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 

 In addition to hair color change, many chemotherapy agents induce
anagen effluvium or loss of hair during the growth phase.

 This leads to loss of 85% of hair on scalp and body.

 Hair regrows, but many times with a different texture or color

Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 

Stress-Induced Hair Shedding
 Telogen effluvium is a shift of about 40% of scalp hairs from the growing phase to the resting phase.

 It usually occurs 3-4 months after an inciting event. As a result, patients develop a rapid shedding of

hair.

 Common causes include severe infections, new systemic illness, hypo- or hyperthyroidism, surgery,

medications (including retinoids, valproic acid, -blockers, anticoagulants), nutritional deficiency, and

postpartum states.

 Telogen effluvium can also be a sign of anorexia or bulimia nervosa.

 Although the most common sign is Russell sign (knuckle calluses), lanugolike body hair and telogen

effluvium are often present.

Reference: Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):198-203. 
Non-cicatrical hair loss

Reference: Tan S et al. Curr Derm Rep Jan 2017. DOI 10.1007/s13671-017-0169-6
Congenital Disorders With Hair
Texture and Shaft Changes
 Trichorrhexis invaginata
 Netherton Syndrome is characterized by ichthyosis

coupled with elevated IgE levels and atopic

manifestations.

 It is caused by a mutation in serine protease inhibitor

Kazal type 5 (SPINK5). Characteristic hair changes

are seen on the scalp, eyelashes, and eyebrows.

 Trichorrhexis invaginata, also known as “bamboo

hair,” is found, and is best identified by plucking

eyebrow hairs and assessing them by light A 40 microscopic image of hair shafts showing
trichorrhexis nodosa, also known as bamboo
microscopy. This is an easily identifiable hairs seen in Netherton syndrome.
manifestation ofthe disease.
Trichothiodystrophy
 Trichothiodystrophy is a rare autosomal recessive condition that is characterized
by brittle hair that has a tiger-tail pattern under polarized light.

 Associated findings include erythroderma, growth retardation, developmental

delay, progerialike facies, decreased fertility, and some with photosensitivity.

 These diagnoses should be considered in infants with extensive erythroderma,

atopic dermatitis-like skin manifestation, and abnormal hair
Increase hair fragility

Reference: Tan S et al. Curr Derm Rep Jan 2017. DOI 10.1007/s13671-017-0169-6
Conclusions

 Acute hair changes should prompt work up

for systemic disease.

 Congenital hair anomalies require careful

attention to systemic symptoms and disease