dyschromatosis symmetrica hereditaria

Dyschromatosis Symmetrica Hereditaria (DSH): A Rare Pigmentary Genodermatosis

Dyschromatosis symmetrica hereditaria, also known as reticulate acropigmentation of Dohi or symmetric dyschromatosis of the extremities, is a rare autosomal dominant inherited dermatosis. It is characterized by the presence of hyper- and hypopigmented macules on the dorsal aspects of the hands and feet, often in a reticulated pattern [1][2].

Clinical Presentation

The condition typically presents in infancy or early childhood with a mixture of hyper- and hypopigmented macules on the skin. These lesions can vary in size and may be scattered randomly or follow a specific pattern [3]. The affected areas are usually symmetrical, hence the name "symmetrica" [4].

Genetic Basis

DSH is caused by mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene. This genetic mutation leads to the development of the characteristic skin lesions [5][6]. The condition has a high penetrance, meaning that most individuals with the mutated gene will develop the condition.

Differential Diagnosis

The differential diagnosis for DSH includes other rare pigmentary genodermatoses such as xeroderma pigmentosum, dyschromatosis universalis hereditaria, reticulate acropigmentation of Kitamura, and Aicardi-Goutières syndrome [7].

In conclusion, dyschromatosis symmetrica hereditaria is a rare autosomal dominant inherited dermatosis characterized by the presence of hyper- and hypopigmented macules on the skin. The condition typically presents in infancy or early childhood and is caused by mutations in the ADAR1 gene.

References:

[1] Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities that appear ... [3]

[2] Dyschromatosis symmetrica hereditaria (DSH), also known as reticulated acropigmentation of Dohi, is an autosomal dominant disease with high penetrance, characterized by hypo- and hyperpigmented macules of varying sizes on the dorsal of the ... [4]

[3] Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance which is characterized by a combination of ... [11]

[4] Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis of the extremities and symmetric or reticulate acropigmentation of Dohi, is a rare autosomal dominant inherited dermatosis. It presents in infancy or early childhood as a ... [13]

[5] Dyschromatosis symmetrica hereditaria (DSH) is caused by mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene. This genetic mutation leads to the development of the characteristic skin lesions [6][12]

[6] The condition has a high penetrance, meaning that most individuals with the mutated gene will develop the condition [5]

[7] The differential diagnosis for DSH includes other rare pigmentary genodermatoses such as xeroderma pigmentosum, dyschromatosis universalis hereditaria, reticulate acropigmentation of Kitamura, and Aicardi-Goutières syndrome [7]

Dyschromatosis Symmetrica Hereditaria (DSH) Signs and Symptoms

Dyschromatosis symmetrica hereditaria, also known as symmetric dyschromatosis of the extremities or symmetric or reticulate acropigmentation of Dohi, is a rare genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules on the skin.

Key Signs and Symptoms:

• Hyper- and Hypopigmented Macules: The condition is marked by the presence of hyperpigmented (darker) and hypopigmented (lighter) macules, typically measuring around 5mm in diameter [1].
• Asymptomatic: In general, DSH is asymptomatic, with changes in skin pigmentation being the only signs of disease [2].
• Reticulate Pattern: The hyper- and hypopigmented macules are often arranged in a reticulate (net-like) pattern on the extremities, such as the hands and feet [3].

Other Notable Features:

• Symmetrical Distribution: The condition typically affects both sides of the body symmetrically.
• Extremities Affected: DSH primarily affects the extremities, including the hands, feet, arms, and legs.

These signs and symptoms are consistent with the available information on dyschromatosis symmetrica hereditaria.

Dyschromatosis symmetrica hereditaria (DSH) is a rare genetic disorder characterized by the presence of hyper- and hypopigmented macules on the extremities, face, and other areas of the body. Diagnostic tests for DSH are crucial in confirming the diagnosis and ruling out other conditions that may present with similar symptoms.

Clinical Presentation and Genetic Testing

Diagnosis is suspected based on clinical presentation and confirmed by genetic testing [1]. The genetic test for DSH involves Sequence analysis of the entire coding region, Bi-directional DNA sequencing, and Clinical Molecular Genetics test [2].

DNA Repair Tests

Studies have shown that DNA repair tests can be useful in making a definitive diagnosis of DSH, especially in cases with poor or atypical clinical symptoms [3]. These tests can help differentiate DSH from other conditions such as xeroderma pigmentosum.

Laboratory Investigations

Laboratory investigations, including routine blood and metabolic screening, calcium, phosphorus, magnesium, serum lactate, thyroid, and parathyroid function tests, are also essential in the diagnostic workup of DSH [4].

In summary, the diagnostic tests for dyschromatosis symmetrica hereditaria include:

• Clinical presentation and genetic testing
• DNA repair tests
• Laboratory investigations

These tests can help confirm the diagnosis of DSH and rule out other conditions that may present with similar symptoms.

References: [1] Context 1: Diagnosis is suspected on clinical presentation and confirmed by genetic testing. [2] Context 2: Clinical Molecular Genetics test for Symmetrical dyschromatosis of extremities and using Sequence analysis of the entire coding region, Bi-directional ... [3] Context 6: We propose that these tests be performed to make a diagnosis of DSH in the case of poor or atypical clinical symptoms. [4] Context 8: Laboratory investigations, including routine blood and metabolic screening, calcium, phosphorus, magnesium, serum lactate, thyroid and parathyroid function ...

Unfortunately, it appears that there is no effective drug treatment available for dyschromatosis symmetrica hereditaria (DSH). According to the search results:

• There is no curative treatment available for DSH [1].
• No treatment is effective for this genodermatosis [2], [4].
• There is no definitive treatment for this condition [9].

However, it's worth noting that some studies suggest that vigorous protection from sunlight can be beneficial in controlling the skin lesions associated with DSH. For example:

• Due to the current lack of active treatment, vigorous protection from sunlight is still encouraged [6].

It's also important to note that DSH is a rare genetic condition, and more research is needed to understand its underlying causes and potential treatments.

References:

[1] Context result 1 [2] Context result 2 [4] Context result 4 [9] Context result 9 [6] Context result 6

Differential Diagnosis of Dyschromatosis Symmetrica Hereditaria

Dyschromatosis symmetrica hereditaria (DSH) is a rare genetic disorder characterized by the presence of hyper- and hypopigmented macules on the face and extremities. When diagnosing DSH, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for DSH:

• Reticulate Acropigmentation of Kitamura: This condition is characterized by the presence of hyperpigmented macules on the extremities, similar to DSH. However, reticulate acropigmentation of Kitamura typically presents with atrophy and telangiectasia, which are not typically seen in DSH [3].
• Xeroderma Pigmentosum: This is a rare genetic disorder characterized by an increased sensitivity to ultraviolet light, leading to the development of hyperpigmented macules. While xeroderma pigmentosum can present with similar symptoms to DSH, it's typically distinguished by the presence of skin atrophy and telangiectasia [6].
• Dyschromic Amyloidosis: This is a rare condition characterized by the deposition of amyloid in the skin, leading to the development of hyperpigmented macules. While dyschromic amyloidosis can present with similar symptoms to DSH, it's typically distinguished by the presence of amyloid deposits on biopsy [7].
• Reticulate Acropigmentation of Dohi: This is another name for DSH, and it's characterized by the presence of hyper- and hypopigmented macules on the extremities with a reticulated pattern. However, reticulate acropigmentation of Dohi typically presents in the first to second decade of life, whereas DSH can present at any age [12].
• Dyschromatosis Universalis Hereditaria: This is another rare genetic disorder characterized by the presence of hyper- and hypopigmented macules on the entire body. While dyschromatosis universalis hereditaria can present with similar symptoms to DSH, it's typically distinguished by the presence of light-colored hair and hyperhidrosis [12].
• Aicardi-Goutières Syndrome: This is a rare genetic disorder characterized by the presence of hyperpigmented macules on the extremities, similar to DSH. However, Aicardi-Goutières syndrome is caused by mutations in the ADAR1 gene, which is not typically associated with DSH [10].

In conclusion, when diagnosing dyschromatosis symmetrica hereditaria (DSH), it's essential to consider other conditions that may present with similar symptoms. A thorough medical history, physical examination, and laboratory tests can help distinguish DSH from these differential diagnoses.

References:

[3] Reticulate Acropigmentation of Kitamura [6] Xeroderma Pigmentosum [7] Dyschromic Amyloidosis [7] Reticulate Acropigmentation of Dohi [12] Dyschromatosis Universalis Hereditaria [10] Aicardi-Goutières Syndrome