Trichomegaly syndrome Q87.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Eyelash syndrome of the long; Long-eyelash syndrome; MIM 190330; MIM 275400; Oliver-McFarlane syndrome; syndrome of long lashes; Trichomegaly; trichomegaly syndromes

History
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Oliver and McFarlane, 1965

Definition
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In syndromal expression, trichomegaly occurs as a rare, aetiologically unexplained, occasionally familial clinical picture with abnormally strong and long growth of the eyelashes (up to 4 cm long) and brows, pigment degeneration of the retinae, proportionate short stature, delayed physical development and questionable mental retardation. Rarely koilonychia and hypotrichosis to alopecia of the scalp hair (Oliver-McFarlane syndrome).

Acquired trichomegaly may appear as a monosymptomatic variant or as part of generalized hypertrichosis.

Furthermore, it is described as an undesirable side effect of alpha-interferon, ciclosporin A and lanataprost in topical glaucoma treatment (see also eyelash lengthening by prostaglandin analogues).

Trichomegaly can also occur in the context of HIV infection (HIV-associated trichomegaly)

Etiopathogenesis
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If congenital, an autosomal recessive inheritance is suspected.

Acquired trichomegaly can be a consequence of an immunosuppressive therapy with tacrolimus . Further occurrence also after chronic infections and malignant tumor diseases ( paraneoplastic syndrome). Trichomegaly is also observed in HIV infected persons.

Clinical features
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Already at birth there are unusually long and strong eyelashes and eyebrows. The eyelashes are up to 4 cm long (called trichomegaly). Congenitally there is bilateral diffuse pigment degeneration of the retina. In addition, physical retardation and proportionate undergrowth are also evident.

Mental retardation, hypogonadism, sparse and thin scalp hair, in adulthood also alopecia totalis, koilonychia as well as neurological disorders (ataxia, peripheral neuropathy) can occur optionally.

Therapy
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  • In congenital trichomegaly: symptomatic therapy. Causal therapies are not known.
  • In acquired trichomegaly: causal research and exclusion of tumours and drugs as triggers.

Literature
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  1. Chang TS, McFarlane DC, Oliver G, Willis NR (1993) Congenital trichomegaly, pigmentary degeneration of the retina and growth retardation (Oliver-McFarlane syndrome): 28-year follow-up of the first reported case. Can J Ophthalmol 28: 191-193
  2. Haritoglou C et al (2003) Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up. Br J Ophthalmol 87: 119-120
  3. Oliver GL, McFarlane DC (1965) Congenital trichomegaly with associated pigmentary degeneration of the retina, dwarfism and mental retardation. Arch Ophthal 74: 169-171
  4. Zaun H et al (1984) The long-eyelash syndrome (trichomegaly syndrome, Oliver-McFarlane). dermatologist 35: 162-165

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Last updated on: 29.10.2020