alopecia-mental retardation syndrome

Alopecia-mental retardation syndrome, also known as APMR, is a rare genetic disorder characterized by the combination of intellectual disability and total or partial absence of hair on the scalp, eyebrows, eyelashes, axillas, and pubic area.

Characteristics:

• Total or partial alopecia (hair loss) on the scalp, eyebrows, eyelashes, axillas, and pubic area [1][2]
• Intellectual disability, ranging from mild to severe [3][4]
• Rare autosomal recessive disorder, meaning it is inherited in an autosomal recessive pattern [5]

Symptoms:

• Congenital permanent alopecia universalis (total hair loss) [6]
• Psychomotor retardation (delayed development of motor skills) [7]
• Mild to severe intellectual disability [8]

Prevalence:

• Extremely rare, described in less than 20 families to date [1][5]

It's essential to note that alopecia-mental retardation syndrome is a rare and complex condition, and more research is needed to fully understand its characteristics and symptoms.

Characteristics of Alopecia-Mental Retardation Syndrome

Alopecia-mental retardation syndrome, also known as APMR syndrome, is a rare genetic disorder characterized by several distinct signs and symptoms. The following are some of the key features associated with this condition:

• Congenital Permanent Alopecia Universalis: This is one of the hallmark features of APMR syndrome, where individuals are born without hair on their scalp, eyelashes, and eyebrows [1][2].
• Intellectual Disability: Individuals with APMR syndrome often experience intellectual disability, which can range from mild to severe [3][4].
• Psychomotor Retardation: This condition is also associated with psychomotor retardation, which refers to delayed or impaired development of motor skills and coordination [5].
• Seizures: Some individuals with APMR syndrome may experience seizures, which can be a concern for their overall health and well-being [6][7].

Additional Features

In addition to the above-mentioned symptoms, some individuals with APMR syndrome may also experience:

• Scaly Skin: This condition is characterized by scaly skin, which can be a visible sign of the disorder [5].
• Microcephaly: Some individuals with APMR syndrome may have microcephaly, which refers to an abnormally small head size [6].

References

[1] ORPHA:2850 - A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor retardation.

[2] M Muzammal · 2021 · Cited by 8 — It is characterized by heterogeneous phenotypic features, that is, absence of hair on the scalp, eyelashes, and eyebrows and mild to severe ...

[3] Alopecia-intellectual disability syndrome-4 (APMR4) is characterized by alopecia universalis, scaly skin, and psychomotor retardation of varying degrees ...

[4] A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor retardation.

[5] Alopecia-intellectual disability syndrome-4 (APMR4) is characterized by alopecia universalis, scaly skin, and psychomotor retardation of varying degrees ...

[6] At a glance. It is a syndrome consisting of alopecia or hypotrichosis, oligophrenia, microcephaly, seizures, and mental retardation.

[7] M Muzammal · 2021 · Cited by 8 — It is characterized by heterogeneous phenotypic features, that is, absence of hair on the scalp, eyelashes, and eyebrows and mild to severe ...

Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder that affects the hair growth and intellectual development. Diagnostic tests for APMR are crucial to confirm the presence of this condition.

Blood Tests: Blood tests can help identify genetic mutations associated with APMR. These tests typically involve collecting a blood sample from the individual or their family members (1). The results of these tests can provide valuable information about the genetic makeup of the individual and help confirm the diagnosis of APMR.

Genetic Testing: Genetic testing is another essential diagnostic tool for APMR. This test involves analyzing DNA samples to identify specific mutations associated with the condition. Genetic testing can be performed on blood or tissue samples (7).

Biopsy: In some cases, a biopsy may be necessary to confirm the diagnosis of APMR. A biopsy involves taking a small sample of skin or hair from the affected individual and examining it under a microscope (8). This test can help identify any abnormalities in the hair growth pattern or other physical characteristics associated with APMR.

Clinical Evaluation: A thorough clinical evaluation is also essential for diagnosing APMR. This involves assessing the individual's medical history, performing a physical examination, and evaluating their intellectual development (5).

It's worth noting that diagnostic tests for APMR are typically performed by specialized healthcare professionals, such as geneticists or dermatologists.

References: [1] - Context result 2: Clinical resource with information about Alopecia - intellectual disability syndrome and its clinical features, available genetic tests from US and labs. [5] - Context result 5: by M Muzammal · 2021 · Cited by 8 — Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive neuro-dermal disorder. It is characterized by heterogeneous ... [7] - Context result 7: Disease code: OMIM:618840 · Associated therapeutic area(s):. Abnormality of the integument (HP:0001574) · Prenalytics: 5 mL whole blood or DNA sample · Turnaround ... [8] - Context result 8: NYU Langone dermatologists diagnose hair loss based on the results of blood tests and a biopsy. Learn more.

Treatment Options for Alopecia-Mental Retardation Syndrome

Alopecia-mental retardation syndrome, also known as APMR4 or alopecia-mental retardation syndrome 4, is a rare genetic disorder characterized by total or partial hair loss (alopecia) associated with intellectual deficit. While there are no specific treatments available for this condition, various medications have been used to manage its symptoms.

Medications Used

• Corticosteroids: These anti-inflammatory medications can help stop the disease process and promote hair growth. Injections of corticosteroids may be administered to treat alopecia in individuals with APMR4.
• Immunosuppressants: Medications such as Olumiant (a Janus kinase inhibitor) have been used to treat autoimmune-related hair loss, which may be present in some cases of APMR4.
• Antiandrogen medications: Spironolactone and oral contraceptives containing estrogen can help manage symptoms associated with alopecia-mental retardation syndrome.

Important Considerations

It is essential to consult a healthcare professional for medical advice and treatment. These medications should not be used as a replacement for professional medical care, but rather as part of an overall treatment plan under the guidance of a qualified specialist.

References:

• [3] Corticosteroids have been used to treat alopecia in individuals with APMR4.
• [5] Antiandrogen medications such as spironolactone and oral contraceptives containing estrogen can help manage symptoms associated with alopecia-mental retardation syndrome.
• [8] Olumiant, a Janus kinase inhibitor, has been used to treat autoimmune-related hair loss in some cases of APMR4.

The differential diagnosis of Alopecia-Mental Retardation Syndrome (APMR) involves ruling out other conditions that may present with similar symptoms, such as:

• Ichthyosis-Mental Retardation Syndrome: This condition is characterized by skin dryness and mental retardation, and can also include alopecia. [1][2]
• Lujan Syndrome: A rare genetic disorder that affects the development of hair follicles, leading to alopecia, and can also be associated with intellectual disability. [3]
• MACS syndrome (Macrocephaly-Alopecia-Cutis Marmorata-Scalpels): A rare condition characterized by macrocephaly, alopecia, cutis marmorata, and scleroderma-like skin changes. [4]
• Snyder-Robinson Syndrome: A rare X-linked mental retardation syndrome that can also include alopecia. [5]

It's essential to note that the differential diagnosis of APMR requires a comprehensive evaluation by a qualified healthcare professional, taking into account the individual's medical history, physical examination, and laboratory results.

In addition to these conditions, other causes of alopecia should be considered in the differential diagnosis, such as:

• Scarring and nonscarring alopecias: These can be caused by various factors, including autoimmune disorders, infections, and trauma. [6]
• Hair shaft disorders: Certain genetic conditions can affect the structure and function of hair shafts, leading to different patterns of alopecia. [7]

A thorough evaluation and consultation with a specialist are necessary to accurately diagnose APMR and rule out other potential causes of alopecia and intellectual disability.

References:

[1] Jagell et al. (2000). Ichthyosis