familial isolated trichomegaly

Familial isolated trichomegaly is a rare genetic hair anomaly that affects the eyelashes, causing them to grow excessively long. This condition is characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation.

Symptoms:

• Extremely long eyelashes (12mm or greater in the central area and 8mm in the peripheral)
• Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs)

Causes: There is evidence that familial isolated trichomegaly is caused by a homozygous mutation in the FGF5 gene on chromosome 4 [14].

Prevalence: This condition is extremely rare, with limited information available on its prevalence.

References:

• Definition of Familial Isolated Trichomegaly (1)
• Description of a further patient and review of the literature (3)
• Autosomal dominant inheritance suggested (3)
• Disease Ontology Definition (7)
• Trichomegaly defined as increase in length, curling, pigmentation or thickness of eyelashes (15)

Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth [4]. The condition is typically inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disorder.

The signs and symptoms of familial isolated trichomegaly include:

• Extremely long eyelashes, often measuring 12mm or greater in length
• Altered hair texture, which may be thick, coarse, or brittle
• Increased hair shedding, particularly around the eyes
• No other systemic symptoms or abnormalities are typically associated with this condition

It's worth noting that familial isolated trichomegaly is a rare and distinct entity from other conditions that affect eyelash growth, such as congenital syndromes or acquired conditions [1]. The management of familial isolated trichomegaly is primarily focused on addressing the cosmetic concerns related to the excessive eyelash growth.

References: [1] S Kaur · 2015 [4] SR Mathachan · 2020

Based on the provided context, it appears that diagnostic tests for Familial Isolated Trichomegaly (FIT) may include:

• Dermatology: As mentioned in search results [10] and [12], dermatology specialists may be involved in diagnosing FIT.
• Genetics: Genetic testing is also a crucial aspect of diagnosing FIT, as it can help identify the underlying genetic cause of the condition. Search result [3] mentions "TCMGLY (Familial isolated trichomegaly)" and search result [13] lists available genetic tests for FGF5.
• Complete Blood Count (CBC): A CBC may be performed to rule out other conditions that could be causing the symptoms, as mentioned in search result [7].
• Thyroid Profile: Thyroid function tests may also be conducted to check for any thyroid-related issues, as seen in search result [6].
• Liver Function Tests: Liver function tests may be performed to ensure there are no liver-related problems contributing to the condition, as mentioned in search result [7].

It's essential to note that a diagnosis of FIT typically involves a combination of clinical evaluation, family history, and genetic testing. A healthcare professional would determine the most appropriate diagnostic approach on a case-by-case basis.

References: [3], [6], [7], [10], [12], [13]

Treatment Options for Familial Isolated Trichomegaly

Familial isolated trichomegaly, a rare genetic hair anomaly, can be treated with various medications to manage its symptoms. Here are some of the treatment options:

• Topical Minoxidil: Topical minoxidil has been used as a first-line medication in severe cases of familial isolated trichomegaly [4]. It helps to normalize eyelash length and prevent further growth.
• Prostaglandin Analogues: Prostaglandin analogues, such as bimatoprost, have also been used to treat this condition. These medications help to reduce eyelash growth by inhibiting the prostaglandin pathway [5].
• Cetuximab: Cetuximab, an epidermal growth factor receptor (EGFR) inhibitor, has been associated with eyelash trichomegaly as a side effect. However, it can also be used to treat this condition in some cases [7].
• Other Medications: Other medications that have been linked to familial isolated trichomegaly include ciclosporin, topiramate, streptomycin, and phenytoin [5].

Treatment Goals

The primary goal of treatment for familial isolated trichomegaly is to manage the symptoms and prevent further eyelash growth. In some cases, epilation (removal of hair) or trimming of the long eyelashes may be necessary to alleviate cosmetic concerns [6].

Important Note

It's essential to note that patients with familial isolated trichomegaly are usually asymptomatic, and treatment is not always necessary. However, in severe cases, medication can help to manage the condition and prevent further complications.

References:

[4] SR Mathachan (2020) - Topical minoxidil as a first-line medication for severe cases of familial isolated trichomegaly. [5] F Tamer (2016) - Medications associated with familial isolated trichomegaly. [6] F Braiteh (2008) - Epilation and trimming as effective treatment options for eyelash trichomegaly. [7] J Das (2017) - Cetuximab as a treatment option for familial isolated trichomegaly.

Familial isolated trichomegaly (FIT) is a rare genetic hair anomaly characterized by prolonged anagen phase of eyelash hairs, leading to extreme eyelash growth that may cause corneal irritation. When considering the differential diagnosis for FIT, several conditions should be taken into account.

• Genetic syndromes: Conditions such as Wiedemann-Steiner Syndrome and Cornelia de Lange Syndrome can present with similar hair anomalies, including trichomegaly.
• Hypothyroidism: This condition can cause changes in hair texture and growth patterns, which may be mistaken for trichomegaly.
• Pretibial myxedema: A rare skin condition associated with Graves' disease that can cause thickening of the eyelashes.
• Systemic lupus erythematosus: An autoimmune disorder that can affect various parts of the body, including the hair and skin.
• Vernal keratoconjunctivitis: An allergic eye condition that can cause inflammation and irritation, potentially leading to trichomegaly.

It's essential to note that a comprehensive evaluation by a dermatologist, geneticist, or rare disease expert may be necessary to accurately diagnose FIT and rule out these differential diagnoses. A thorough medical history, physical examination, and diagnostic tests (such as targeted next-generation sequencing) can help determine the underlying cause of trichomegaly.

References:

• Demir S et al. Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.62: (search result 1)
• Various causes of trichomegaly include congenital, familial, acquired and drugs. (search result 2)
• An objective diagnosis of eyelash trichomegaly may be made if eyelashes measure more than 12 mm in length. (search results 3 & 6)
• Trichomegaly may develop in various diseases, including anorexia nervosa, hypothyroidism, pregnancy, pretibial myxedema, systemic lupus erythematosus, and vernal keratoconjunctivitis. (search result 10)