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GENETICS OF WEREWOLF SYNDROME.
19/9/2017
PRESENTED BY
BAKHTWAR ATTIQUE
29/9/2017
INTRODUCTION:
HYPERTRICHOSIS:
This is a medical condition in which
there is excessive hair growth in
areas that normally d...
CLASSES OF HYPERTRICHOSIS:
CONGENITAL
HYPERTRICHOSIS
Present from birth.
This is a rare syndrome.
It has several sub-class...
TYPE OF HAIR:
When a person has hypertrichosis they can
have any of the three different types
of hair.
Vellus:
Terminal:
L...
GENETICS:
• CGH in its most common form is idiopathic in the absence of underlying endocrine or
metabolic disorders.
• An ...
9/9/2017 7
EPIDEMIOLOGY:
• Congenital forms of hypertrichosis are rare.
• HISTORICAL BACKGROUND
• The first recorded case of hypertri...
CIRCUS LIFE
Circus Life Stephan Bibrowski,
known as Lional the lion faced
man. He like many other people
with this disease...
STUDIES ON CONGENTIAL GENERALIZED
HYPERTRICHOSIS:
• Studies show autosomal dominate pattern inheritance with CGH.
• Affect...
MALE AND FEMALE
• Female:
female have patchy pattern of
the disease.
• Male:
Male have the syndrome more
extreme.
9/9/2017...
DIAGNOSIS:
• PHYSICAL CHANGES
Particular attention should be given to the presence of other anomalies in particular area
o...
CAUSES
• Malnutrition and anorexia nervosa.
• Endocrine disorders.
• Juvenile dermatomyositis and infectious diseases.
• M...
MANAGEMENT AND TREATMENT OF
HYPERTRICHOSIS:
• There are different approaches to the treatment of excess hair,
including:
•...
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Genetics of congenital generalized hypertrichosis

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Genetics of congenital generalized hypertrichosis

  1. 1. GENETICS OF WEREWOLF SYNDROME. 19/9/2017
  2. 2. PRESENTED BY BAKHTWAR ATTIQUE 29/9/2017
  3. 3. INTRODUCTION: HYPERTRICHOSIS: This is a medical condition in which there is excessive hair growth in areas that normally do not have hair. It is sometimes called the werewolf syndrome or Ambras syndrome. As far back as the middle Ages there have been documented cases of hypertrichosis in both women and men. CLASSIFICATION: TYPES OF HYPERTRICHOSIS: 1. Generalized hypertrichosis. 2.Localized hypertrichosis. 39/9/2017
  4. 4. CLASSES OF HYPERTRICHOSIS: CONGENITAL HYPERTRICHOSIS Present from birth. This is a rare syndrome. It has several sub-classes: Congenital generalized hypertrichosis is one of the type of Congenital hypertrichosis ACQUIRED HYPERTRICHOSIS This disorder arises in sufferers after birth. It also has several sub-classes. 49/9/2017
  5. 5. TYPE OF HAIR: When a person has hypertrichosis they can have any of the three different types of hair. Vellus: Terminal: Lanugo: 59/9/2017
  6. 6. GENETICS: • CGH in its most common form is idiopathic in the absence of underlying endocrine or metabolic disorders. • An excess of stimulation of the hair follicles with normal levels of androgen-like hormones. • The involvement of chromosome 17.3 with Ambras type, and involvement of chromosome X at the locus X 17q24.2-q24.3. • Congenital generalized hypertrichosis (CGH), is the type of X-linked dominant; the gene that is mutated is found on the X chromosome. • Hypertrichosis is sometimes considered an atavism a trait that reappears once it has disappeared generations ago. 69/9/2017
  7. 7. 9/9/2017 7
  8. 8. EPIDEMIOLOGY: • Congenital forms of hypertrichosis are rare. • HISTORICAL BACKGROUND • The first recorded case of hypertrichosis was Petrus Gonsalvus. • Julia Pastrana. 89/9/2017
  9. 9. CIRCUS LIFE Circus Life Stephan Bibrowski, known as Lional the lion faced man. He like many other people with this disease joined the circus. He makes his wealth by sharing his medical condition with the world. As time went on the hair on Stephan's face grew to an outstanding length of 8in on his face, and about 4in everywhere else on his body! 99/9/2017
  10. 10. STUDIES ON CONGENTIAL GENERALIZED HYPERTRICHOSIS: • Studies show autosomal dominate pattern inheritance with CGH. • Affected women carry on the trait to both male and female offspring. 109/9/2017
  11. 11. MALE AND FEMALE • Female: female have patchy pattern of the disease. • Male: Male have the syndrome more extreme. 9/9/2017 11
  12. 12. DIAGNOSIS: • PHYSICAL CHANGES Particular attention should be given to the presence of other anomalies in particular area of the face, eyes, teeth, hearth, kidneys, bones, and extremities, and at the same time, to obesity and intellectual disability. The diagnosis directed at identifying the signs associated with CGH and distinguishing it from the acquired form. • CHEMICAL CHANGES Drug induced hypertrichosis, in particular anti-convulsants such as phenytoin and other drugs, including corticosteroids, cyclosporine and interferon alpha. 129/9/2017
  13. 13. CAUSES • Malnutrition and anorexia nervosa. • Endocrine disorders. • Juvenile dermatomyositis and infectious diseases. • Metabolic diseases such as mucopolysaccharidoses (Hurler, Hunter, Sanfilippo syndromes). • Congenital porphyrias. • Adrenal enzymatic deficiency. • And Ovarian and adrenal neoplasms. 139/9/2017
  14. 14. MANAGEMENT AND TREATMENT OF HYPERTRICHOSIS: • There are different approaches to the treatment of excess hair, including: • Cosmetic procedures. • Intense pulsed light source and laser treatment. • Pharmacological treatment. 149/9/2017
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