Edit concept Question Editor Create issue ticket

Familial Isolated Trichomegaly


Presentation

  • Discussion In polycoria, multiple pupillary openings are present in theiris. It is generally an isolated congenital abnormality andmay be either true or pseudo-polycoria.[docslide.net]
  • Available from: Sir, A 16-year-old girl and her 2-year-old brother presented for clinical evaluation of long eyeleshes. The increased eyelash growth had been present since birth in both siblings [Figure 1] and [Figure 2].[ijdvl.com]
  • Severe cases may present with visual discomfort, mechanical ptosis, and corneal ulcers as a result of trichiasis. [4] However, epilation and trimming of the long eyelashes have been reported as effective treatment options.[ijpd.in]
  • Trichomegaly: An Unusual Side Effect of Gefitinib Therapy. ( 29440861 ) Agrawal C.R....Kothiwal S. 2018 2 Epidermal Growth Factor Receptor Inhibitor Induced Trichomegaly and Poliosis. ( 29389408 ) Goyal S....Uwaydat S.H. 2018 3 Eyelash Trichomegaly: A Rare Presenting[malacards.org]
  • Specific molecular defects have been reported in well-known syndromes presenting with hypertrichosis.[ijponline.biomedcentral.com]
Rhinitis
  • […] whose family members have similar findings. [4] Eyelash trichomegaly has been reported with several diseases including alopecia areata, systemic lupus erythematosus, dermatomyositis, human immunodeficiency virus infection, atopic dermatitis, allergic rhinitis[ijpd.in]
  • […] whose family members have similar findings. [2] Eyelash trichomegaly has been reported with several diseases including alopecia areata, systemic lupus erythematosus, dermatomyositis, human immunodeficiency virus infection, atopic dermatitis, allergic rhinitis[ijdvl.com]
Cough
  • Case Report A 4-year-old male child visited the Pediatric Department for minor ailments such as cough and cold and was incidentally detected to have abnormally long eyelashes [Figure 1].[ijpd.in]
Esotropia
  • Hyperopia, left esotropia, and right optic disc pit were found on ocular examination. The child had normal stature, no learning difficulties, and no retinal pigmentary degeneration.[healio.com]
  • The most common types of strabismus found in patients with this syndrome are esotropia and exotropia. Vertical deviations have been reported.[emedicine.medscape.com]
Miosis
  • Pre-op Preparation  Adequate miosis  Facilitates retraction of iris from angle Steps  After placing the goniotomy lens over cornea  Anterior chamber is entered through a clear corneal incision (e.g. nasal goniotomy – temporal incision is given ) [slideshare.net]
Normal Stature
  • The child had normal stature, no learning difficulties, and no retinal pigmentary degeneration. Trichomegaly, or hypertrichosis of the eyelashes, is defined by increased length, thickness, stiffness, and curling of the eyelashes.[healio.com]
Pendular Nystagmus
  • He hadhorizontal pendular nystagmus, more in the lateral gaze;however, there was no strabismus or restricted ocularmotility.[docslide.net]
Learning Difficulties
  • The child had normal stature, no learning difficulties, and no retinal pigmentary degeneration. Trichomegaly, or hypertrichosis of the eyelashes, is defined by increased length, thickness, stiffness, and curling of the eyelashes.[healio.com]

Treatment

  • Eyelash Trichomegaly Following Use of New Selective Pan-FGFR Inhibitors. ( 28538953 ) BActrian S....Sibaud V. 2017 5 Isolated Unpigmented Trichomegaly of the Groin in 3 Patients. ( 28232920 ) Grimalt R. 2017 6 Trichomegaly and scalp hair changes following treatment[malacards.org]
  • This additional growth is typically restricted to the eye under treatment, but a bilateral effect of treatment of one eye and hypertrichosis of the ipsilateral of the ear lobe has been reported.[hypertrichosis.com]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • Severe cases may present with visual discomfort, mechanical ptosis, and corneal ulcers as a result of trichiasis. [4] However, epilation and trimming of the long eyelashes have been reported as effective treatment options.[ijpd.in]
  • In addition, treatment with cyclosporine, tacrolimus, topical prostaglandins, topiramate, zidovudine and epidermal growth factor receptor inhibitors such as cetuximab, erlotinib, gefitinib and panitumumab may cause overgrowth of the eyelashes as a side[ijdvl.com]

Prognosis

  • .  Although spectrum of mutations in CYP1B1 have been implicated in PCG  Very few reported genotype phenotype correlations  Frameshift and R 390C are associated with severe phenotypes and poor prognosis IOVS April 2004 ;45 :1149-56 19.[slideshare.net]
  • Prognosis depends on the cause. The most common types of excessive hair growth persist life-long. Hirsutism tends to be more pronounced with age.[dermnetnz.org]
  • The prognosis is related to the pathological events associated with the hair disorder, in particular to the epilepsy and cardiac or renal anomalies.[ijponline.biomedcentral.com]

Etiology

  • "Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes". International Journal of Dermatology. 51 (6): 631–646. doi : 10.1111/j.1365-4632.2011.05315.x. ISSN 1365-4632. PMID 22607279.[en.wikipedia.org]
  • Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes. Int J Dermatol 2012;51:631-46. [ PUBMED ] 5. Almagro M, del Pozo J, García-Silva J, Martínez W, Castro A, Fonseca E.[ijpd.in]
  • Rothman I.L. 2012 25 Trichomegaly of the eyelashes during therapy with epidermal growth factor receptor inhibitors: report of 3 cases. ( 23010833 ) Fabbrocini G....Ayala F. 2012 26 Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies[malacards.org]
  • Eyelash trichomegaly: Review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes. Int J Dermatol 2012;51:631-46. [ PUBMED ] 3. Almagro M, del Pozo J, García-Silva J, Martínez W, Castro A, Fonseca E.[ijdvl.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]

Epidemiology

  • Relevant External Links for FGF5 Genetic Association Database (GAD) FGF5 Human Genome Epidemiology (HuGE) Navigator FGF5 Tumor Gene Database (TGDB): FGF5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FGF5 No data available for Genatlas[genecards.org]
  • […] q23.1q23.2) - Monosomy 17q23.1-q23.2 - Monosomy 17q23.1q23.2 Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Terminology Classification Systems Epidemiology and Genetics Pathogenesis Clinical Presentation Diagnostic Examination EUA Medical Management Surgical Management Visual Rehabilitation Impact of Childhood Glaucoma Conclusion 3.[slideshare.net]
  • Epidemiology The incidence of CGH is unknown, but held to be essentially rare. The incidence is notably higher when the hypertrichosis is one of several signs involved in a complex syndrome.[ijponline.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • J Invest Dermatol 2009May;129510881099 36 - D Farhi, N Dupin, Pathophysiology, etiologic factors, and clinical management of oral lichen planus, part I: facts and controversies.[intechopen.com]

Prevention

  • How can hirsutism and hypertrichosis be prevented? It is not yet possible to prevent genetically predetermined excessive hair growth. Insulin resistance associated with obesity can be reduced by weight loss and dietary control.[dermnetnz.org]
  • They can therefore shorten and prevent attacks but a single course cannot prevent future attacks. Recurrent courses may be given or the medication may be taken incessantly to prevent numerous repeated attacks.[infinitypath.com.au]
  • Sudden, muscular spasms affecting the larynx (laryngospasm) causes closure of the upper end of the trachea and prevents air form reaching the lungs.[rarediseases.org]
  • PRIMARY CONGENITAL GLAUCOMA Faulty atrophy of mesodermal tissue Faulty cleavage of mesodermal tissue Excessive collagenous beams preventing posterior sliding of iris and ciliary body leading to anterior iris insertion and TM obstruction Abnormal migration[slideshare.net]
  • G Ison, Prevention and early treatment of opportunistic viral infections in patients with leukemia and allogeneic stem cell transplantation recipients.[intechopen.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!