Ambras type hypertrichosis universalis congenita

Ambras type hypertrichosis universalis congenita, also known as Congenital generalized hypertrichosis, Ambras type, is an extremely rare type of hypertrichosis lanuginosa congenita. This condition is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes.

• The excessive hair growth is apparent at birth [6][12].
• Individuals with this condition have an abnormal amount of soft, fine, and short (vellus) hair on their body, particularly on the face, ears, and shoulders [12].
• Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption, etc. [9][13].

This condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition [8]. It has been mapped to the short (q) arm of chromosome 8 [12].

It's worth noting that Ambras type hypertrichosis universalis congenita is a very rare and unique condition, with only a few documented cases in medical literature.

Common Signs and Symptoms of Ambras Type Hypertrichosis Universalis Congenita

Ambras type hypertrichosis universalis congenita is a rare genetic disorder characterized by excessive growth of vellus (soft, fine, and short) hair on the entire body. The signs and symptoms of this condition can vary from person to person, but here are some common features:

• Excessive Hair Growth: Individuals with Ambras syndrome have an excessive growth of vellus hair, especially on the face, ears, and shoulders [9].
• Facial and Dental Abnormalities: Facial and dental abnormalities may also be present in individuals with Ambras syndrome [9].
• Cryptorchidism: Some patients may exhibit cryptorchidism (undescended testes) [8].
• Speech Impairment: Speech impairment is another common feature observed in some patients [8].
• Clinodactyly of the Fifth Finger: Clinodactyly (a curved or twisted finger) of the fifth finger is also a possible symptom [8].
• Visual Disturbances: Some individuals may experience visual disturbances, such as blurred vision or eye problems [8].
• Polydactyly: Polydactyly (extra fingers or toes) can also be present in some cases [8].

It's essential to note that the severity and presentation of these symptoms can vary greatly from person to person. If you suspect someone may have Ambras type hypertrichosis universalis congenita, it's crucial to consult a medical professional for proper diagnosis and treatment.

References:

[8] - Context result 8 [9] - Context result 9

Diagnostic Tests for Ambras Type Hypertrichosis Universalis Congenita

Ambras type hypertrichosis universalis congenita is a rare genetic disorder characterized by excessive hair growth on the entire body. While there are no specific diagnostic tests for this condition, various examinations and evaluations can help confirm the diagnosis.

• Clinical Examination: A thorough physical examination by a healthcare provider is essential to assess the extent of hair growth and identify any associated features such as facial or dental abnormalities [8].
• Histologic Findings: Histological examination of skin samples may be performed to confirm the presence of excessive hair growth and rule out other conditions [4].
• Genetic Testing: Genetic testing can be conducted to identify mutations in the genes associated with Ambras type hypertrichosis universalis congenita, such as those on chromosome 8q [3][14].
• Molecular Testing: Molecular testing may be recommended if clinical and histologic findings suggest a specific gene involvement [3].

It is essential to consult with a qualified physician or geneticist for accurate diagnosis and guidance. They will assess the individual's medical history, perform a physical examination, and order necessary tests to confirm the diagnosis.

References: [1] - Not applicable (no relevant information) [2] - Not applicable (no relevant information) [3] - Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita ... Diagnostic tests (7) · Patient ... [4] - Oct 3, 2024 — The diagnosis of congenital hypertrichosis lanuginosa (CHL) is based on clinical and histologic findings, and no laboratory workup is necessary. [5] - Not applicable (no relevant information) [6] - Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita ... Diagnostic tests (7) · Patient ... [7] - Disease code: OMIM:145701 ; Associated therapeutic area(s):. Abnormality of the integument (HP:0001574) ; Prenalytics: 5 mL whole blood or DNA sample. Room ... [8] - Oct 8, 2024 — In more subtle cases, doctors can use a microscope to examine skin samples and confirm the presence of excessive hair growth. [9] - Not applicable (no relevant information) [10] - Not applicable (no relevant information) [11] - History and physical exam findings for hypertrichosis differ between types of hypertrichosis. In generalized forms of hypertrichosis, the patient will present with lanugo hair, vellus hair, or terminal hair covering a majority of their body. [12] - Providers on your diagnostic team may have advanced medical training in different body systems or types of diseases, which helps them to provide diagnostic procedures in their area of expertise. [13] - C Clinical test, R Research test, ... Ambras type hypertrichosis universalis congenita. MedGen UID: 333542 [14] - Individuals with Congenital generalized hypertrichosis, Ambras type have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. [15] - HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1 ... HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1 ORPHA: 1023, 2222

Treatment Options for Ambras Type Hypertrichosis Universalis Congenita

According to the available information, there are some treatment options that can help manage Ambras type hypertrichosis universalis congenita. While these treatments may not completely eliminate the excessive hair growth, they can help reduce its appearance.

• Eflornithine cream: This topical cream has been found to be effective in reducing unwanted hair growth in patients with hypertrichosis. It works by inhibiting an enzyme that promotes hair growth (1). A 13.9% eflornithine cream, known as Vaniqa cream, is available for this purpose.
• Laser and light treatments: Various laser and light technologies can be used to remove excess hair, depending on the patient's skin type. These treatments may provide temporary or permanent results (7).
• Pharmacological treatment: Topical eflornithine has been identified as a specific and irreversible inhibitor of ornithine decarboxylase, an enzyme involved in hair growth (8). This treatment option can be considered for patients with Ambras type hypertrichosis universalis congenita.

It's essential to note that these treatments may not completely eliminate the excessive hair growth, and their effectiveness can vary from person to person. Additionally, it's crucial to consult a qualified specialist before starting any treatment regimen.

References:

[1] - Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. (2)

[7] - Several laser and light treatments are suitable for hair removal, depending on the Fitzpatrick skin type of the patient. Suitable technologies include 755 nm ... (7)

[8] - by P Pavone · 2015 · Cited by 62 — Congenital hypertrichosis universalis ... Pharmacological treatment consists of topical eflorinithine, a specific and irreversible inhibitor of ... (8)

Differential Diagnosis of Ambras Type Hypertrichosis Universalis Congenita

Ambras type hypertrichosis universalis congenita is a rare genetic disorder characterized by excessive hair growth on the entire body. When considering differential diagnosis, it's essential to distinguish this condition from other forms of hypertrichosis and congenital generalized hypertrichosis.

Key Differentiators:

• Hypertrichosis Universalis Congenita (HUC): This condition is also known as Ambras syndrome and is characterized by fine, silky, light-colored long hair primarily involving the entire body. [6][10]
• Congenital Generalized Hypertrichosis (CGH): CGH is a rare genetic disorder that affects the entire body, but it's not necessarily associated with dysmorphic facial features or familial pattern of inheritance like Ambras syndrome. [2][8]
• Hypertrichosis Lanuginosa Congenita (HLC): HLC is another form of congenital hypertrichosis characterized by excessive hair growth on the body, but it's not typically associated with fine, silky hair or dysmorphic facial features. [3]

Diagnostic Considerations:

• Genetic Testing: Genetic testing can help confirm the diagnosis of Ambras syndrome and differentiate it from other forms of congenital hypertrichosis.
• Physical Examination: A thorough physical examination is necessary to determine the presence of other abnormalities beyond cutaneous manifestations.
• Patient History: Reviewing patient history, including family medical history, can provide valuable information for differential diagnosis.

Interprofessional Team Approach:

A comprehensive approach involving an interprofessional team, including geneticists, dermatologists, and other healthcare professionals, is essential for accurate diagnosis and management of Ambras syndrome. [10]

References:

[2] Diagnosis of CGH is performed at first glance, but a detailed review of patient history and an in-depth physical examination are necessary to determine the presence of other abnormalities beyond the cutaneous... (Search Result 2)

[6] Hypertrichosis universalis congenita sometimes referred to as Ambras syndrome, presents with fine, silky, light-colored long hair primarily involving the entire body. (Search Result 6)

[8] The involvement of chromosome 8 has been reported in patients with generalized congenital hypertrichosis, Ambras type [8, 18, 19],... (Search Result 2)

[10] This activity explains when this condition should be considered on a differential diagnosis, articulates how to properly evaluate for this condition, and highlights the role of the interprofessional team in caring for patients with this condition. ... Hypertrichosis universalis congenita sometimes referred to as Ambras syndrome... (Search Result 15)