autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques

Olmsted Syndrome: A Rare Autosomal Dominant Disorder

Olmsted syndrome, also known as autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques, is a rare congenital disorder characterized by abnormal skin thickening on the palms, soles, and around the eyes and mouth [4][5]. This condition is caused by mutations in the TRPV3 gene on chromosome 17p13.2 [10].

Clinical Presentation

The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth [3]. Other symptoms include sparse hair, abnormal nails, joint issues, pain, and itching [4]. The condition is characterized by the progressive development of mutilating, painful plaques of keratoderma on the palms and soles that begins during infancy to early childhood [14].

Key Features

• Bilateral mutilating palmoplantar keratoderma
• Periorificial keratotic plaques around the eyes, mouth, and other areas
• Sparse hair and abnormal nails
• Joint issues, pain, and itching
• Autosomal dominant inheritance pattern

References

[3] Context 3: The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. [4] Context 4: Mutilating palmoplantar keratoderma with periorificial keratotic plaques, also known as Olmsted syndrome, is a rare congenital disorder causing abnormal skin thickening on the palms, soles, and around the eyes and mouth. Symptoms include sparse hair, abnormal nails, joint issues, pain, and itching. [10] Context 10

Signs and Symptoms

Autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques, also known as Olmsted syndrome, is a rare genetic disorder characterized by the following signs and symptoms:

• Thickening of skin: Thickened skin (keratosis) over the palms and soles, which can be even and widespread.
• Perioral and perinasal keratotic plaques: Development of hyperkeratotic plaques around the mouth and nostrils, which are sharply marginated, fissured, and yellowish in color.
• Mutilating palmoplantar keratoderma: Mutilating, constricting bands forming around the digits, leading to secondary nail dystrophy.
• Hyperhidrosis and superinfection: Associated hyperhidrosis (excessive sweating) and superinfections of the affected skin areas.
• Perioral erythema, brachydactyly, and nail abnormalities: Perioral erythema (redness around the mouth), brachydactyly (short fingers), and nail abnormalities may also be associated with this condition.

These symptoms typically appear within the first year of life and can vary in severity among affected individuals. The disorder is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.

References:

• [1] Thickening of skin over the palms and soles (result 10)
• [2] Perioral and perinasal keratotic plaques (result 12)
• [3] Mutilating palmoplantar keratoderma (results 11, 12)
• [4] Hyperhidrosis and superinfection (results 5, 9)
• [5] Perioral erythema, brachydactyly, and nail abnormalities (result 5)

Autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques, also known as Olmsted syndrome, can be challenging to diagnose. However, several diagnostic tests and approaches have been identified in the medical literature.

• Clinical evaluation: A thorough clinical examination is essential for diagnosing Olmsted syndrome. The condition is characterized by abnormal skin thickening on the palms, soles, and around the eyes and mouth, as well as sparse hair, abnormal nails, joint issues, pain, and itching [3].
• Genetic testing: Genetic changes (DNA variants) in the TRPV3 gene have been identified as a cause of Olmsted syndrome. Next-Generation Sequencing (NGS) or other genetic testing methods can be used to detect these mutations [2]. A 26-gene panel that includes assessment of non-coding variants is also recommended for patients presenting with palmoplantar keratoderma [6].
• Histopathological examination: Histopathology can help confirm the diagnosis by showing epidermolytic changes in suprabasal keratinocytes, which are characteristic of Olmsted syndrome [11].

It's worth noting that establishing an accurate diagnosis may take several years and requires a multidisciplinary approach involving dermatologists, geneticists, and other specialists. Receiving an accurate diagnosis is crucial for developing an effective treatment plan and managing the condition effectively.

References:

[2] Clinical Genetic Test offered by Intergen for conditions (1): Olmsted syndrome 1; Testing genes (1): TRPV3 (17p13.2)

[3] Mutilating palmoplantar keratoderma with periorificial keratotic plaques, also known as Olmsted syndrome, is a rare congenital disorder causing abnormal skin thickening on the palms, soles, and around the eyes and mouth.

[6] Nov 13, 2023 — A 26 gene panel that includes assessment of non-coding variants. Is ideal for patients presenting with palmoplantar keratoderma.

[11] Diffuse epidermolytic PPK (EPPK; MIM# 144200, KRT9, KRT1) is the most common diffuse PPK with epidermolytic changes in suprabasal keratinocytes seen on histology.

Based on the search results, here are some potential treatment options for autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques (also known as Olmsted syndrome):

• Topical treatments: Topical anti-inflammatories can be helpful for hyperkeratosis and itching [5]. Keratolytics, such as 6% salicylic acid in white soft paraffin or a gel of 6% salicylic acid in 70% propylene glycol, may also be used to help control the condition [8].
• Oral retinoids: Oral retinoids have been found to be helpful for short-term use in individuals with significant disability [6]. However, their long-term use is not recommended due to potential side effects.
• Emollients and topical steroids: Emollients, topical retinoids, keratolytics, and topical steroids may also be used as part of the treatment regimen [7].
• Pain management: Nonsteroidal anti-inflammatory drugs (NSAIDs), topical lidocaine, and soaking of lesions in cold water can help control pain [3].

It's worth noting that the effectiveness of these treatments can vary from person to person, and a comprehensive treatment plan should be developed in consultation with a dermatologist or other healthcare professional.