X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques

X-linked Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques

X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques, also known as Olmsted syndrome (OLMSX), is a rare and severe form of keratinization disorder. This condition is characterized by the combination of:

• Bilateral Mutilating Palmoplantar Keratoderma: A type of skin thickening that affects the palms and soles, causing them to become hardened and cracked.
• Periorificial Keratotic Plaques: Thickened skin lesions around the mouth, nose, eyes, genital area, anus, ears, and navel.

This condition is caused by a mutation in the MBTPS2 gene on chromosome Xp22. It is inherited in an X-linked recessive pattern, meaning that it primarily affects males who have only one X chromosome. Females can be carriers of the mutated gene but are less likely to develop symptoms due to their two X chromosomes.

Symptoms and Characteristics

• The condition typically presents at birth or in early childhood.
• Affected individuals may experience severe itching (pruritus) at all lesions.
• Other symptoms include sparse hair, abnormal nails, joint issues, pain, and skin infections.
• The condition worsens over time, increasing the risk of skin infections and other complications.

Diagnosis

Olmsted syndrome diagnosis relies on clinical presentation. Initially, the diagnostic hallmarks are the association of bilateral transgredient mutilating palmoplantar keratoderma and periorificial keratotic plaques, which allows exclusion of other hyperkeratotic related disorders.

References

• [1] A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions... (Search Result 1)
• [2] Olmsted syndrome diagnosis relies on the clinical presentation. Initially, the diagnostic hallmarks of OS are the association of bilateral transgredient mutilating palmoplantar keratoderma and periorificial keratotic plaques... (Search Result 11)

Signs and Symptoms

X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques, also known as Olmsted syndrome (OS), is a rare genetic disorder characterized by the combination of bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth.

Key Symptoms:

• Bilateral Mutilating Palmoplantar Keratoderma: Thickened skin on the palms and soles, often with a red band at the edges.
• Periorificial Keratotic Plaques: Red or yellowish patches of thickened skin around the eyes, mouth, nose, ears, genital area, anus, and navel.
• Other Clinical Manifestations:
  • Excessive perspiration
  • Flexion deformities of the fingers
  • Localized alopecia (hair loss)
  • Leukokeratosis of the tongue
  • Short stature and laxity of the skin

These symptoms can vary in severity and may be accompanied by other complications, such as chronic periodontal disease, cataracts, optic nerve colobomata, and hypertriglyceridemia.

References:

• [3] - Mutilating Palmoplantar keratoderma with periorificial keratotic plaques
• [13] - X-linked Olmsted syndrome (OLMSX)
• [10] - Olmsted syndrome diagnosis relies on the clinical presentation.

Diagnostic Tests for X-linked Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques

The diagnostic tests for X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques, also known as Olmsted syndrome, typically involve a combination of clinical evaluation and genetic testing.

• Clinical Evaluation: The diagnosis is primarily based on the characteristic symptoms, including:
  • Bilateral mutilating palmoplantar keratoderma
  • Periorificial keratotic plaques
  • Abnormalities in the integument, immune system, head or neck, and eyes (as per HP codes: 0001574, 0000152, 0000478) [1][5]
• Genetic Testing: Genetic changes in the TRPV3 and MBTPS2 genes are associated with Olmsted syndrome. Diagnostic tests may include:
  • Sequence analysis of the entire coding region
  • Next-Generation (NGS)/Massively Parallel Sequencing (MPS) for genetic variants [2]
  • A 26 gene panel that includes assessment of non-coding variants, ideal for patients presenting with palmoplantar keratoderma [7]

It's essential to note that diagnosis is symptom-based, and genetic testing can aid in confirmation. Consultation with a medical professional or a genetic counselor is recommended for accurate diagnosis and guidance on the most suitable diagnostic tests.

References: [1] - Context result 4 [2] - Context result 2 [5] - Context result 5 [7] - Context result 7

Based on the search results, it appears that there are several treatment options for X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques.

Topical Treatments

• Topical keratolytics such as 6% salicylic acid in white soft paraffin or a gel of 6% salicylic acid in 70% propylene glycol can be effective [3].
• Emollients, topical retinoids, and topical steroids are also commonly used to manage this condition [5].

Oral Retinoids

• Oral retinoids have been found to be helpful in managing the symptoms of X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques, but they are recommended for short-term use only due to potential side effects [7].

EGFR Inhibitors

• A study has shown that EGFR inhibitors such as erlotinib may be effective in treating this condition, particularly in patients with mutations in the TRPV3 gene [1].

Pain Management

• Nonsteroidal anti-inflammatory drugs (NSAIDs), topical lidocaine, and soaking of lesions in cold water can help control pain associated with this condition [6].

It's worth noting that treatment options may vary depending on individual cases and the severity of symptoms. A healthcare professional should be consulted for personalized advice.

References: [1] KE Spitz (2022) - This case emphasizes that erlotinib may represent an effective and novel treatment for pain and PPK in patients with OS and TRPV3 mutations. [3] What is the Treatment? · Topical keratolytics, such as 6% salicylic acid in white soft paraffin, or a gel of 6% salicylic acid in 70% propylene glycol. [5] Apr 15, 2019 — Treatment includes emollients, topical retinoids, keratolytics, and topical steroids. [6] Jul 2, 2024 — Nonsteroidal anti-inflammatory drugs (NSAIDs), topical lidocaine, and soaking of lesions in cold water can help control pain. [7] Although oral retinoids are helpful, they are recommended only for short-term use for the temporary relief of individuals with significant disability.

Based on the search results, it appears that Olmsted syndrome (X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques) has a differential diagnosis that includes other inherited and acquired conditions. Here are some possible differential diagnoses:

• Focal Inherited Palmoplantar Keratoderma without Extracutaneous Features: This condition is characterized by diffuse mutilating PPK with periorificial keratotic plaques, similar to Olmsted syndrome [14].
• Palmoplantar and Periorificial Keratoderma: This condition is a rare genodermatosis that presents with palmoplantar keratoderma and periorificial keratotic plaques, which can be similar to Olmsted syndrome [1-3].
• Mutilating Palmoplantar Hyperkeratosis with Periorificial Keratotic Plaques: This condition is a rare autosomal dominant disorder that presents with mutilating palmoplantar hyperkeratosis and periorificial keratotic plaques, which can be similar to Olmsted syndrome [11].

It's worth noting that the differential diagnosis of Olmsted syndrome may also include other conditions such as sclerodactyly, nail abnormalities, alopecia, perifollicular keratosis, and leukokeratosis [8]. A thorough evaluation by a dermatologist or geneticist is necessary to determine the correct diagnosis.

References:

[1] Context result 2 [2] Context result 3 [3] Context result 5 [8] Context result 8 [14] Context result 14