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Werewolf Syndrome
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Werewolf Syndrome
(Congenital Hypertrichosis)
Werewolf Syndrome
(Guinnes World Records)
History
History
– In 1648, Aldrovandus first documented a family with
hypertrichosis. Originally from the Canary Islands
– Petrus Gonzales was brought to France as a curiosity for th
nobles. Gonzales' family that two daughters, a son, and a
grandchild all had hypertrichosis.
– Altrovandus dubbed them the Ambras family, after the
Ambras castle near Innsbruck, where portraits of the fami
were found.
– Over the next 300 years, more than 50 similar-appearing
cases were described, and 34 patients with presumed
congenital hypertrichosis were identified.Scientist Rudolf
Virchow described a form of hypertrichosis accompanied b
gingival hyperplasia in 1873.
History
The hairy family of
Burma has a 4generation pedigr
of congenital
hypertrichosis
lanuginosa dating
back to 1826.
Earlier generations
were in the emplo
of the Ava court, b
later generations
often earned a liv
as sideshow
attractions in the
1880s.
Diagnosis – Signs & Symptoms
• Extremely rare, unlike acquired forms, is always prese
at birth.
• Characterized by the presence of fully pigmented
terminal hair over entire body.
• Usually accompanied by gingival hyperplasia.
• This form is most responsible for the term "Werewolf
Syndrome" because of the thick dark hair that appear
Genetic Mutation
– The term Ambras syndrome was coined.
– Two cases of Ambras syndrome were associated with
alterations in chromosome 8.
– Tadin et. Al. analyzed the original patient described by
Baumeister and detected a inversion of chromosome 8
– A second patient reported by Balducci, an association was
made with an insertion of chromosome 8, as well as a
complex deletion encompassing four separate chromosom
breakpoints.
– Research suggests that this region of chromosome 8 conta
a gene involved in regulation of hair growth.
Genetic Mutation
• No laboratory tests are indicated for patients with
congenital hypertrichosis.
• The diagnosis of congenital hypertrichosis lanuginosa
(CHL) is based on clinical and histologic findings, and
laboratory workup is necessary; however, laboratory
values may be used to exclude other causes of
hypertrichosis.
• The diagnosis of Ambras syndrome may be supported
by inversions involving breakpoints in the region of
band 8q22.
Genetic Mutation
• X-linked congenital generalized hypertrichosis
• An extremely rare condition of hair overgrowth on
different body sites
• Reported linkage in a large Mexican family with X-link
congenital generalized hypertrichosis
• Chromosome 6 duplication onto the X chromosome
Treatment
• The use of eflornithine (Vaniqa cream), 13.9% or hair
removal by means of repeated shaving, depilatory
methods (eg, chemical, electric methods), or bleachin
can improve congenital hypertrichosis lanuginosa (CH
patients’ appearance.
• Older techniques of hair removal are mentioned in th
literature; these rarely used techniques include
diathermy and radiation therapy.
• Clinicians should consider the use of antidepressant
medications in patients with depression.
Genetic Consultations
• Genetic consultation may be indicated for the family
members of patients with congenital Ambras
syndrome.
• Congenital hypertrichosis lanuginosa and Ambras
syndrome may have an autosomal dominant pattern
inheritance; however, an association with a genetic
defect has not been demonstrated in all patients.
• Belengeanu et al describe 2 siblings with purported
Ambras syndrome born to normal parents and propo
that these patients might represent either an
autosomal recessive pattern or germline mosaicism.
Genetic Consultations
• Germline mosaicism
–This is the clinical situation when a person ha
two populations of cells in the gonads (testes
or ovaries)
–One population of cells containing the usual
genetic complement whilst the other contain
a DNA mutation or chromosome anomaly.
Works Cited (sample)
• Taylor, Sarah K. “Congenital Hypertrichosis
Lanuginosa Treatment & Management” Medscape
Reference, WebMD LLC. 2 November 2011.
http://emedicine.medscape.com/article/1072987overview
• Am J Hum Genet. 2011 Jun 10;88(6):819-26. doi:
10.1016/j.ajhg.2011.05.004.
http://www.ncbi.nlm.nih.gov/pubmed/21636067