What Causes Increased Body Hair?

Patient Presentation
A 1-week-old male infant came to clinic for health supervision. He was born at 35 1/2 week gestation but had no problems in the newborn period and was discharged at day 3 of life. He was breastfeeding every 1.5-2.5 hours for about 30 minutes and would easily wake for feeding. His mother’s milk had come in on day 3 of life. His elimination showed multiple stools which had transitioned from meconium. His bilirubin level on day of life 5 was decreased from his discharge level and the parents said his jaundice was improving. His parents had no unusual newborn questions except were wondering if he was too hairy overall. The past medical history showed a second child born without prenatal or natal complications other than being premature. The family history was positive for cardiac disease and hypertension in older relatives. They were from South Asia. The review of systems was normal.

The pertinent physical exam showed a well-appearing child with good cry and suck. His weight was 2590 grams which was up 10 grams from two days previous and was 5% decreased from birth. He had minimal scleral icterus. The skin examination showed fine langugo hair especially over the legs, arms, back and around the hairline. His scalp hair was also somewhat prominent along the sideburn area of the face and he had thick eyebrows also. The rest of his examination was normal. The diagnosis of a healthy previously preterm infant who was gaining appropriate weight, but with congenital hypertrichosis was made. The physician told the family that the lanugo hair would decrease as the infant aged. They were also told that the amount of facial hair is usually genetic but that it would be monitored. The father noted that he himself seemed to have more hair in similar areas as the infant, than other people.

Discussion
Body hair, including its amount and distribution, have cultural norms and social implications that vary according to the group and individual. There are entire industries which cater to removing hair in certain body parts (i.e. underarms and legs for western women) and adding hair in other locations (i.e. head for western men). Excessive body hair (relatively) is usually often due to normal physiologic process (such as puberty) or genetic. Two definitions which are often confused are:

  • Hypertrichosis – excessive, non-androgen induced hair growth in a localized or generalized pattern distribution in males or females.
  • Hirsuitism – excessive, androgen-induced hair growth in a male pattern distribution in children and women.

Learning Point

The differential diagnosis of excessive body hair includes:

  • Congenital hypertrichosis – normal process where there is excessive lanugo, often due to prematurity
  • Central nervous system
    • Faun-tail – occult spinal dysraphism
    • Hair colla – cranial meningocoeles, encephalocoele
    • Multiple sclerosis
    • Plexiform neurofibroma
    • Postencephalopathic hypertrichosis
  • Drug and toxins
    • Androgens
    • Cyclosporine
    • Diazoxide
    • Minoxidil
    • Penicillamine
    • Phenytoin
    • Psoralens
    • Steroids
  • Endocrine
    • Androgen producing tumor
    • Adrenocortical hyperplasia
    • Adrenal insufficiency
    • Cushing’s syndrome
    • Hypothyroidism
    • Idiopathic Hirsuitism
    • Polycystic ovary disease
  • Genetic
    • Barber Say syndrome
    • Cornelia de Lange Syndrome
    • Epidemolysis bullosa
    • Hairy elbows syndrome
    • Hereditary gingival hyperplasia with hypertrichosis
    • Hypertrichosis lanuginosa
    • Lipoatrophy
    • Mitochondrial disease
    • Mucopolysaccaridosis – Hurler’s syndrome
    • Porphyria
    • Rubinstein-Taybi
    • Waardenburg syndrome
  • Localized
    • Becker nevus
    • Hairy nevus
    • Linear nevus sebaceous syndrome
    • Nevoid hypertrichosis
    • Hemihypertrophy
  • Other
    • Anorexia nervosa
    • Henna tattoos
    • Dermatomyositis
    • Severe malnutrition

Questions for Further Discussion
1. What causes decreased amounts of body hair?
2. For suspected endocrine-related excessive body hair, what workup should be completed?

Related Cases

    Symptom/Presentation: Not applicable

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Hair Problems

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Illingworth RS. Common Symptoms of Disease in Children. Blackwell Scientific Publications: Oxford. 1988:355-56.

Hurwitz S. Clinical Pediatric Dermatology. 2nd Edit. 1993;501-504.

Baumeister FA, Schwarz HP, Stengel-Rutkowski S. Childhood hypertrichosis: diagnosis and management. Arch Dis Child. 1995 May;72(5):457-9.

Vashi RA, Mancini AJ, Paller AS. Primary generalized and localized hypertrichosis in children. Arch Dermatol. 2001 Jul;137(7):877-84.

Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:1213-1214.

Durmazlar SP, Tatlican S, Eskioglu F. Localized hypertrichosis due to temporary henna tattoos: report of three cases. J Dermatolog Treat. 2009;20(6):371-3.

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    5. Patients and their families are counseled and educated.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Interpersonal and Communication Skills
    17. A therapeutic and ethically sound relationship with patients is created and sustained.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • What Causes Pediatric Stroke?

    Patient Presentation
    A 3-year-old male came to clinic for a pre-operative evaluation. Six weeks prior, he acutely couldn’t walk and was taken to an emergency department. There he became unable to move his left arm and had difficulty talking. He was transferred to the regional children’s hospital and was diagnosed with moyamoya disease. He will have surgery in one week. His workup for other underlying causes of stroke was negative. During the past 6 weeks he has been improving with physical therapy, occupational therapy and speech therapy in the home. The past medical history showed a healthy boy with no known underlying medical problems. The family history was positive for coronary artery disease, hypertension and stroke in older family members, but no hematologic, cardiac, vascular or genetic problems. There were no sudden or unexplained deaths, or fetal loss. The review of systems was negative.

    The pertinent physical exam shows a smiley boy who cognitively appears appropriate. His vital signs were normal with growth parameters in the 25-75%. His neurological evaluation shows him to be alert and oriented x 4. He has very mild dysarthria. Left arm and leg show strength to be +4/+5 with a mild limp that becomes more pronounced with running. He will use both hands but prefers the right. Coordination is fairly good when appropriate body support is provided. The rest of the examination is normal. The diagnosis of moyamoya disease was made. He was to return for ongoing care coordination and support service evaluation after the surgery.

    Discussion
    Stroke is “…the sudden occlusion or rupture of cerebral arteries or veins resulting in focal cerebral damage and clinical neurological deficits that persist for longer than 24 hours. Stroke can be ischemic, hemorrhagic or both.” Pediatric stroke, especially in a seemingly well child, is uncommon, but not as uncommon as often presumed. Outside the perinatal time period, the rate is 2-13 events /100,000 children/year or about the same rate as pediatric brain tumors. It unfortunately is also common cause of morbidity (75% of survivors have neurological deficits) and death (one of the 10 most common causes). Pediatric stroke presentations includes dystonia, emesis, fever, headache, hemiparesis, irritability, lethargy, and seizures. Adult stroke is often due to arteriosclerosis, but pediatric stroke is commonly due to congenital or genetic problems or other underlying medical problems. Pediatric stroke is also often due to several processes in concert (e.g. patient with Tetrology of Fallot, status post cardiac surgery who becomes dehydrated). Pediatric stroke may occur at any age including in utero and perinatally.

    Moyamoya disease or syndrome is an arteriopathy of unknown origin that causes progressive stenosis of the apices of the intracranial internal carotid arteries. It is associated with cerebral ischemia and stroke. Moyamoya disease is the term used for arteriopathy alone, and moyamoya syndrome is the term used when there are associated conditions such as hyperthryoidism, Neurofibromatosis type 1, Down syndrome, and others. Moyamoya is a Japanese term meaning “puff of smoke” because the compensatory collateral cerebral vasculature on angiography is so tortuous and thin that it looks like a puff of smoke. Surgical treatment, while taking many forms, often tries to resect the abnormal vessels and reanastamose with the collaterals.

    Moyamoya if left untreated progresses with poor outcomes, so surgery improves outcomes. In 3 large studies, perioperative surgical complications included stroke (0-4% of procedures) with one study reporting only 2 strokes in their patients who were followed for 5 years. The best indicator of long term outcome is the neurologic status at the time of surgery.

    Acute hemiplegia such as the patient above, has other causes besides stroke including alternating hemiplegia, transient postictal hemiparesis, and complicated migraine.

    Learning Point
    The differential diagnosis of pediatric stroke includes:

    • Cardiac (25-50%)
      • Acquired heart disease
      • Congenital heart disease
      • Cardiac surgery
    • Drugs
      • Cocaine
      • Methamphetamine
      • Phencyclidine
    • Hematologic
      • Abnormal coagulation
        • Disseminated intravascular coagulation
        • Hemophilia
        • Hypercoagulable state (35%)
        • Polycythemia
        • Thrombocytopenia
      • Sickle cell anemia
    • Genetic
      • Aicardi-Goutieres syndrome
      • Alagile syndrome
      • Arterial tortuosity syndrome
      • CADASIL syndrome
      • CARASIL syndrome
      • Fabry’s disease
      • Homocystinuria
      • Pseudoxanthoma elasticum
      • Neurofibromatosis type 1
      • Menke’s disease
      • Williams-Beuren syndrome
    • Neurological
      • Perinatal asphyxia and sequelae
    • Trauma
      • Air or fat emolism
      • Arterial dissection (10-25%)
      • Head trauma
    • Vascular
      • Fibromuscular dysplasia
      • Migraine
      • Moyamoya disease (25%)
    • Vasculitis
      • Inflammatory bowel disease
      • Kawasaki disease
      • Meningitis
      • Systemic lupus erythematosus
      • Takayasu arteris
    • Miscellaneous
      • Dehydration – severe
      • Hypotension

    Questions for Further Discussion
    1. What types of congenital heart diseases have increased risk for stroke?
    2. What is the proposed mechanism for cocaine to cause stroke?
    3. What medical evaluation should be completed for a patient with stroke?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for these topics: Brain Malformations and Stroke.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:2231-2232.

    Ibrahimi DM, Tamargo RJ, Ahn ES. Moyamoya disease in children. Childs Nerv Syst. 2010 Oct;26(10):1297-308.

    Mallick AA, O’Callaghan FJ. Risk factors and treatment outcomes of childhood stroke. Expert Rev Neurother. 2010 Aug;10(8):1331-46.

    Smith ER, Scott RM. Moyamoya: epidemiology, presentation, and diagnosis. Neurosurg Clin N Am. 2010 Jul;21(3):543-51.

    Munot P, Crow YJ, Ganesan V. Paediatric stroke: genetic insights into disease mechanisms and treatment targets. Lancet Neurol. 2011 Mar;10(3):264-74.

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Interpersonal and Communication Skills
    17. A therapeutic and ethically sound relationship with patients is created and sustained.
    18. Using effective nonverbal, explanatory, questioning, and writing skills, the healthcare professional uses effective listening skills and elicits and provides information.
    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

  • Systems Based Practice
    25. Quality patient care and assisting patients in dealing with system complexities is advocated.
    26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • What Causes Ptosis?

    Patient Presentation
    An 8-year-old female came to clinic with a 3 day history of painful left eyelid swelling with redness, swelling and one area that was somewhat painful. She denied problems seeing, walking or other activities. She had no eye problems previously. She had noted some crusting on the eyelids after awakening. The review of systems was negative.

    The pertinent physical exam showed a well-appearing female with normal vital signs and growth parameters that were 10-25%. Visual acuity was 20:20 by Snellen chart. Extra ocular movements were intact. The left eyelid margin showed one 4-5 mm swelling in the center of the eyelid with an area that pointed outward that was slightly yellowish. There was mild erythema of the swelling and surrounding tissue. She had a notable localized ptosis, that came to the top of the pupil. There were no other lesions noted with eversion of the eyelid. Neurological examination was intact and she had normal head position. The rest of the examination was normal. The diagnosis of a simple external hordeolum was made. The family was instructed to do warm compresses for 15 minutes four times/day. They were to call if the swelling or pain increased, or if changes in vision or generalized symptoms such as fever developed. They were also to call if any neurological symptoms appeared or the hordeolum was not improving in about 3 days.

    Discussion
    Ptosis or blepharoptosis is the downward displacement of the upper eyelid. The eyelid aponeurosis, levator muscle and Muller muscle retain the proper position of the upper eyelid. Ptosis can be congenital or acquired. Some causes require immediate attention by an ophthalmologist for proper treatment to preserve eyesight including trauma, uveitis, orbital cellulitis, etc.. Other causes require additional subspecialty assistance such as a cerebrovascular accident, thyroid disease, myasthenia gravis, etc.

    Mild ptosis can be a cosmetic problem, but proper function and position of the eyelid is essential to preserve eyesight. Ptosis may decrease the amount of light entering the eye and therefore decrease acuity. Abnormal structural relationships of the globe and eyelid may cause secondary eyelid and other visual problems.

    For more information about styes, chalazions and hordeolums, click here.

    Learning Point
    The differential diagnosis for ptosis includes:

    • Infection
      • Blepharochalsis
      • Conjunctival scarring including trachoma
      • Chalazion
      • Hordeolum
      • Preseptal cellulitis
      • Orbital cellulitis
      • Uveitis
    • Neuromuscular
      • Benign essential blepharospasm
      • Botulism
      • Congenital ptosis
      • Congenital fibrosis syndrome
      • Cerebrovascular accident
      • Horner’s syndrome
      • Oculomotor (Third nerve) palsy
      • Ophthalmoplegic migraine
      • Myotonic dystrophy
      • Myasthenia gravis
      • Multiple sclerosis
    • Pseudooptosis
      • Blepharospasm
      • Contralateral proptosis
      • Lid apraxia
      • Enophthalmosis
      • Hypotropia
      • Microophalmosis
      • Misalignment
    • Trauma
      • Contact lens trauma
      • Eyelid foreign body
      • Eyelid laceration
      • Globe malposition
      • Orbital fracture
      • Previous eye surgery
      • Transection of the levator muscle or aponeurosis
    • Tumor
      • Capillary hemangioma
      • Primary or secondary malignancy
    • Other
      • Blephalophimosis syndrome
      • Drugs – vincristine
      • Genetic syndromes – Noonon, Leigh
      • Fabry disease
      • Marcus Gunn jaw-winking phenomenon
      • Porphyria
      • Thyroid disease

    Questions for Further Discussion
    1. How would you evaluate a child with ptosis?
    2. When can a child’s visual acuity be evaluated in a health supervision visit?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Eyelid Disorders

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Illingworth RS. Common Symptoms of Disease in Children. Blackwell Scientific Publications: Oxford. 1988:197.

    Mulvihill A, O’Keefe M. Classification, assessment, and management of childhood ptosis. Ophthalmol Clin North Am. 2001 Sep;14(3):447-55.

    Ahmadi AJ, Sires BS. Ptosis in infants and children. Int Ophthalmol Clin. 2002 Spring;42(2):15-29.

    Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:2167,2363.

    Sajja K, Putterman AM.Evaluation of Ptosis. ePocrates. Available from the Internet at https://online.epocrates.com/u/29111168/Evaluation+of+ptosis/Differential/Overview (rev. 11/08/2010, cited 5/16/2011).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Systems Based Practice
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital