Werewolf Syndrome(Congenital Hypertrichosis)

By Sample Student

Werewolf Syndrome(ABC News)

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 the

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 family 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 by gingival hyperplasia in 1873.

HistoryThe hairy family of

Burma has a 4-generation pedigree of congenital hypertrichosis lanuginosa dating back to 1826.

Earlier generations were in the employ of the Ava court, but later generations often earned a living as sideshow attractions in the 1880s.

Diagnosis – Signs & Symptoms

• Extremely rare, unlike acquired forms, is always present 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 appears.

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 chromosomal breakpoints.

– Research suggests that this region of chromosome 8 contains 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 no 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.

Treatment

• The use of eflornithine (Vaniqa cream), 13.9% or hair removal by means of repeated shaving, depilatory methods (eg, chemical, electric methods), or bleaching can improve congenital hypertrichosis lanuginosa (CHL) patients’ appearance.

• Older techniques of hair removal are mentioned in the 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 of 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 propose 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 has

two populations of cells in the gonads (testes or ovaries)–One population of cells containing the usual

genetic complement whilst the other contains 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/1072987-overview