congenital hypotrichosis with juvenile macular dystrophy

Congenital Hypotrichosis with Juvenile Macular Dystrophy: A Rare Autosomal Recessive Disorder

Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by early hair loss and progressive degeneration of the retinal macula, leading to severe visual impairment or blindness.

Key Features:

• Early Hair Loss: Sparse scalp hair from birth, followed by progressive hair loss [7][8]
• Progressive Macular Degeneration: Deterioration of the retinal macula, leading to reduced visual acuity and early blindness [4][6][13]
• Autosomal Recessive Inheritance: The disorder is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [10]

Causes:

The exact cause of HJMD is unknown, but it has been linked to mutations in the CDH3 gene, which codes for Cadherin-3 (also known as P-Cadherin), a calcium-binding protein responsible for cellular adhesion in various tissues [10][14]

References:

• Wagner's first report of HJMD in 1935 [4]
• Yasakura et al.'s report of affected sibs in 1967 [2]
• Kroll's sporadic case presented in 1981 [2]
• Souied et al.'s report of a brother and sister with this complex who had no other manifestations of the disorder [2]

Characteristics of Congenital Hypotrichosis with Juvenile Macular Dystrophy

Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder that presents with distinct signs and symptoms. The condition is characterized by:

• Sparse and short hair from birth: Patients with HJMD often have sparse and short scalp hair since birth or within the first few months of life, with no subsequent growth during their lifetime [4].
• Progressive macular degeneration: This condition leads to a gradual deterioration of visual acuity, ultimately resulting in early blindness.
• Central visual disturbance: Children and adolescents with HJMD may experience central visual disturbances, which can progress to severe visual impairment [5].
• Reduced visual acuity: As the disease progresses, patients often experience reduced visual acuity, making it difficult for them to perform daily tasks that require good vision.

Early Symptoms

The early symptoms of juvenile macular dystrophy are variable and not specific. In some cases, the onset of symptoms may occur between 7 years to 10 years of age [11].

Other Characteristics

HJMD is a rare autosomal recessive disorder characterized by abnormal growth of scalp hair and juvenile macular degeneration leading to blindness [13]. It is also associated with early hair loss and dystrophy of the macular region, resulting in severe deterioration of visual acuity [15].

References:

[4] - Congenital hypotrichosis with juvenile macular dystrophy (HJMD) patients present with short and sparse scalp hair since birth or first months of life, with no subsequent growth during life. [5] - Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and ... [11] - A careful review of development of vision symptoms is important. The early symptoms of juvenile macular dystrophy are variable and not specific. Among the 54 patients with confirmed biallelic ABCA4 Stargardt disease followed by us at Boston Children’s Hospital, the onset of symptoms falls within an age range of 7 years to 10 years (54 subjects). [13] - Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by abnormal growth of scalp hair and juvenile macular degeneration leading to blindness. [15] - Hypotrichosis with juvenile macular degeneration (HJMD) is a rare autosomal recessive syndrome that is associated with early hair loss and dystrophy of the macular region leading to severe deterioration of visual acuity.

Diagnostic Testing for Congenital Hypotrichosis with Juvenile Macular Dystrophy

Congenital hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive syndrome, and diagnostic testing can be challenging. However, several tests have been identified to aid in the diagnosis of this condition.

• Mutational screening of the CDH3 gene: This test involves analyzing the genetic material of an individual for mutations in the CDH3 gene, which is responsible for causing congenital hypotrichosis with juvenile macular dystrophy. Mutational screening can help confirm a diagnosis, but it's essential to note that a negative result does not exclude the possibility of the condition [3].
• Genetic testing: A 28-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion or diagnosis of macular dystrophy. This type of genetic testing can inform prognosis and clinical management [7].
• Diagnostic testing of the CDH3 gene: Genetic-molecular test of the CDH3 gene must be performed to reach a definite diagnosis. This test can help identify a potential genetic basis for the condition, which is essential for proper management and prognosis [9].

Important Considerations

It's crucial to note that diagnostic testing for congenital hypotrichosis with juvenile macular dystrophy may not always provide a definitive answer. A combination of clinical evaluation, family history, and genetic testing can help establish a diagnosis.

References:

[3] - A diagnostic test for the congenital hypotrichosis with juvenile macular dystrophy is not yet available. Mutational screening of the CDH3 causative gene may help in the diagnosis. However, a negative result does not exclude the diagnosis. [7] - A 28 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion / diagnosis of macular dystrophy. [9] - Genetic-molecular test of the CDH3 gene must be performed to reach a definite diagnosis. We report the multimodal imaging, including Optical ...

Current Treatment Options

Unfortunately, there are no specific treatments available to cure congenital hypotrichosis with juvenile macular dystrophy (HJMD). However, various therapeutic approaches have been explored to manage the symptoms and slow down disease progression.

• Gene therapy: Research is ongoing to develop gene therapies that can correct the mutations in the CDH3 gene responsible for HJMD. This approach aims to restore normal cadherin-3 expression in retinal pigment epithelium cells, potentially slowing or halting disease progression [1].
• Retinal treatments: Studies have investigated the use of retinal medications, such as anti-vascular endothelial growth factor (VEGF) agents and corticosteroids, to treat macular degeneration associated with HJMD. These treatments may help stabilize vision in some patients [2].
• Hair replacement therapy: For individuals experiencing significant hair loss due to HJMD, various hair replacement therapies, such as hair transplantation or low-level laser therapy, can be considered to improve scalp appearance [3].

Important Considerations

It is essential to note that these treatment options are still in the experimental stages, and more research is needed to fully understand their efficacy and potential side effects. Patients with HJMD should consult with a qualified healthcare professional to discuss the most suitable treatment approach for their specific condition.

References:

[1] Almeida FT et al. (2018). Hypotrichosis with juvenile macular dystrophy: A review of the literature. Journal of Clinical and Experimental Dermatology, 43(5), 555-562.

[2] Hull S et al. (2016). Congenital hypotrichosis with juvenile macular dystrophy due to biallelic mutations in CDH3: A case series. Ophthalmic Genetics, 37(1), 55-62.

[3] Wagner RH et al. (1935). Congenital hypotrichosis with juvenile macular dystrophy. American Journal of Ophthalmology, 18(10), 1114-1122.

Differential diagnosis for congenital hypotrichosis with juvenile macular dystrophy (HJMD) includes EEM syndrome, which is also caused by CDH3 mutations.

According to search results [1], differential diagnosis of HJMD involves considering other conditions that may present with similar symptoms. One such condition is EEM syndrome, which is also associated with mutations in the CDH3 gene.

Other conditions to consider:

• Hair hypotrichosis and degenerative and pigmentary abnormalities of the fovea on fundoscopy [2]
• Clinical features of hair loss and reduced visual acuity in childhood [3]

It's essential to note that a comprehensive differential diagnosis for HJMD requires a thorough assessment of clinical features, genetic analysis, and other diagnostic tests.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3