dyschromatosis universalis hereditaria

Dyschromatosis universalis hereditaria (DUH) is a rare genetic disorder characterized by the presence of hyper- and hypopigmented macules on the skin, forming a reticulated pattern. This condition typically affects the trunk and limbs, with the face being occasionally involved.

The affected areas may display a mix of dark and light spots, giving an overall impression of mottling or lace-like patterns [3]. The size of these macules can vary from pinpoint to pea-sized, and they are usually asymptomatic [4].

In most cases, DUH is inherited in an autosomal dominant pattern, although some instances may follow an autosomal recessive inheritance pattern [4]. The condition typically presents with early onset of diffuse mottled pigmentation [7].

It's worth noting that the palms, soles, and mucosa are usually not affected by this condition [9].

Clinical Signs and Symptoms of Dyschromatosis Universalis Hereditaria (DUH)

Dyschromatosis universalis hereditaria (DUH) is a rare genetic disorder characterized by the presence of hyperpigmented and hypopigmented macules on the skin. The clinical signs and symptoms of DUH can vary in severity and presentation, but here are some common manifestations:

• Mottled Hyperpigmentation: Patients with DUH often exhibit mottled hyperpigmented macules of irregular size and shape [5].
• Abnormalities of Hair and Nails: Abnormalities of hair and nails have been reported in cases of DUH, including changes in texture, color, or growth pattern [2].
• Involvement of Palms or Soles: Involvement of the palms or soles is unusual in DUH, but can occur [1].
• Eruptions during Early Childhood: The first manifestations of the disease generally appear during early childhood, with 70% of patients showing eruptions until the age of 7 [4].

Diagnostic Features

The diagnosis of DUH is primarily based on clinical examination and medical history. Diagnostic tests may include:

• Biopsy: Representative lesions from both the depigmented and hyperpigmented macules were biopsied, revealing reduced and increased basement membrane pigmentations [8].
• Genetic Testing: Genetic testing can confirm the diagnosis of DUH by identifying mutations in the RAB27A gene.

References

[1] Context result 2 [4] Context result 4 [5] Context result 5 [8] Context result 8

Dyschromatosis universalis hereditaria (DUH) can be diagnosed through a combination of clinical evaluation and genetic testing.

• Clinical Evaluation: The diagnosis of DUH is primarily based on the characteristic skin lesions, which are typically irregularly shaped hyper- and hypopigmented macules that appear in infancy or early childhood. A thorough physical examination by a dermatologist or a geneticist can help identify these lesions and confirm the diagnosis [1][4].
• Genetic Testing: Genetic testing is available for DUH and can be used to confirm the diagnosis, especially when there is a family history of the condition. The ABCB6 gene has been identified as the causative gene for DUH, and genetic testing can detect mutations in this gene [3][6].

It's worth noting that while genetic testing can provide a definitive diagnosis, it may not be necessary in all cases. A clinical evaluation by a dermatologist or geneticist can often confirm the diagnosis based on the characteristic skin lesions.

References:

[1] Context 1: Dyschromatosis universalis hereditaria is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood...

[3] Context 3: Clinical Genetic Test offered by Laboratorio de Genetica Clinica SL for conditions (1): Dyschromatosis universalis hereditaria; Testing genes (2): ABCB6 ...

[4] Context 14: Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood...

[6] Context 6: Clinical Genetic Test offered by Laboratorio de Genetica Clinica SL for conditions (1): Dyschromatosis universalis hereditaria; Testing genes (2): ABCB6 ...

Dyschromatosis universalis hereditaria (DUH) is a rare genetic disorder characterized by hyper- and hypopigmented macules on the skin. While there is no curative treatment for DUH, various therapeutic trials have been tried to manage its symptoms.

According to search results [8], Dyschromatosis universalis hereditaria (DUH) is a rare disease that is inherited both in autosomal dominant and autosomal recessive patterns. Various treatment modalities like Narrow-Band Ultraviolet B (NBUVB) therapy, lasers, and topical treatments have been tried, but no treatment has shown promising results [7].

However, some studies suggest that Q-switched alexandrite laser can be a safe and effective treatment for cosmetically disfiguring lentigines associated with DUH [4]. Additionally, narrow-band ultraviolet-B therapy has also been reported to show response in a 12-year-old male child with DUH [10].

It's worth noting that the prognosis for patients with DUH is generally poor, and there is no curative treatment available. Topical sunscreen and sun-protective clothing can help to control the skin lesions, but these measures are not sufficient to manage the condition effectively.

In summary, while various treatments have been tried for dyschromatosis universalis hereditaria (DUH), none of them have shown promising results in managing the condition. Further research is needed to find effective treatment options for this rare genetic disorder.

References: [4] Nogita T. Q-switched alexandrite laser for cosmetically disfiguring lentigines associated with dyschromatosis universalis hereditaria. [5] Kim MS. Various therapeutic trials for dyschromatosis universalis hereditaria. [7] Murthy AB. Treatment of dyschromatosis universalis hereditaria: a review. [8] Chin YY. Dyschromatosis universalis hereditaria: a rare disease with autosomal dominant and autosomal recessive inheritance patterns. [10] Sasidharanpillai S. Response to narrow-band ultraviolet-B therapy in a child with dyschromatosis universalis hereditaria.

Differential Diagnosis of Dyschromatosis Universalis Hereditaria (DUH)

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by diffuse mottled pigmentation. The differential diagnosis of DUH includes several conditions that present with similar skin manifestations.

Conditions to Consider:

• Xeroderma pigmentosum: A genetic disorder caused by DNA repair deficiency, leading to premature aging and hyperpigmentation [1].
• Dyschromic amyloidosis: A rare condition characterized by the deposition of amyloid proteins in the skin, resulting in hyperpigmentation and macules [2][9].
• Amyloidosis cutis dyschromica: A rare form of amyloidosis that affects the skin, causing hyperpigmentation and macules [2].
• Dermatopathia pigmentosa reticularis: A rare genetic disorder characterized by reticulate pigmentation and other skin manifestations [2].
• Naegeli-Franceschetti-Jadassohn syndrome: A rare genetic disorder characterized by reticulate pigmentation, hyperpigmentation, and other systemic features [2].

Key Features to Consider:

• Genetic inheritance: DUH is inherited in an autosomal dominant or autosomal recessive pattern [4].
• Diffuse mottled pigmentation: The hallmark feature of DUH, which can be present at birth or appear later in life.
• Hyperpigmented and hypopigmented macules: These are characteristic skin lesions found in DUH.

References:

[1] by K Urabe · 1997 · Cited by 90 [2] by S Dogohar · 2021 · Cited by 2 [3] Jan 13, 2022 [4] by YY Chin · 2011 · Cited by 8 [5] by D Zhou · 2023 · Cited by 2 [6] Apr 10, 2024 [7] by YS Ro · 1990 · Cited by 9 [8] by S Kumar · 2011 · Cited by 3