palmoplantar keratoderma-deafness syndrome

Palmoplantar keratoderma-deafness syndrome, also known as Palmoplantar keratoderma with deafness, is a rare genetic disorder characterized by skin abnormalities and hearing loss.

Key Features:

• Skin Abnormalities: Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood.
• Hearing Loss: Hearing loss ranges from mild to profound, starting in early childhood and worsening over time.

Other Characteristics:

• The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset.
• A patchy distribution of skin thickening is observed on the palms and soles, with accentuation on the thenars, hypothenars, and arches of the feet.

Genetic Basis:

• Palmoplantar keratoderma-deafness syndrome can be caused by mutations in the GJB2 or MT-TS1 genes.
• The GJB2 gene provides instructions for making a protein called gap junction beta 2, also known as connexin 26, which is involved in the transport of nutrients and ions between cells.

References:

• [1] Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder characterized by either focal or diffuse early-onset palmoplantar keratoderma and sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance. (Source: #6)
• [2] The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome is related to other keratinization disorders. (Source: #3)
• [3] Palmoplantar keratoderma with deafness can be caused by mutations in the GJB2 or MT-TS1 genes. The GJB2 gene provides instructions for making a protein called gap junction beta 2, also known as connexin 26. (Source: #10)

Palmoplantar keratoderma-deafness syndrome, also known as PPKD, is a rare genetic disorder characterized by skin abnormalities and hearing loss.

Skin Abnormalities:

• Thickened Skin: Affected individuals develop unusually thick skin on the palms of their hands and soles of their feet. This can lead to discomfort, pain, and difficulty walking or performing daily activities.
• Red Band at Edges: A red band is often present at the edges of the keratosis (thickened skin), which can be a distinctive feature of this condition.
• Patchy Distribution: The thickened skin may have a patchy distribution, with accentuation on the thenars, hypothenars, and arches of the feet.

Hearing Loss:

• Difficulty Hearing High-Pitched Sounds: Individuals with PPKD often experience trouble hearing high-pitched sounds, which can be a significant challenge in everyday life.
• Variable Symptoms: The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others experiencing both skin and hearing problems.

Other Features:

• Early-Onset: PPKD is characterized by early-onset palmoplantar keratoderma, which can become apparent in childhood or adolescence.
• Genetic Basis: This condition has a genetic basis, with mutations affecting the genes responsible for skin and hearing development.

References:

• [1] A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. (Source: Search Result 5)
• [2] Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma with hearing loss. (Source: Search Result 7)
• [3] Even, widespread thickened skin (keratosis) over the palms and soles. A red band at the edges of the keratosis is frequent. (Source: Search Result 8)
• [4] 'Keratoderma' is a term that means marked thickening of the epidermis of the skin. 'Palmoplantar' refers to the skin on the soles of the feet and palms of the hands. (Source: Search Result 9)

Diagnostic Tests for Palmoplantar Keratoderma-Deafness Syndrome

Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder that requires a comprehensive diagnostic approach. The following tests can help confirm the diagnosis:

• Molecular analysis: This is considered the gold standard to confirm the diagnosis of palmoplantar keratodermas, including palmoplantar keratoderma-deafness syndrome [8]. Molecular analysis involves examining the genes and chromosomes for any mutations or abnormalities.
• Skin biopsy: A skin biopsy can help identify the characteristic changes in the skin associated with palmoplantar keratoderma-deafness syndrome. The biopsy sample is examined under a microscope to look for signs of hyperkeratosis, epidermal thickening, and other skin abnormalities [7].
• Clinical examination: A thorough clinical examination by a dermatologist or geneticist can help identify the characteristic features of palmoplantar keratoderma-deafness syndrome, such as focal or diffuse palmoplantar keratoderma, hearing loss, and other associated symptoms [1, 2, 5].

Additional Diagnostic Tests

• Mutation scanning/screening: This test involves examining specific genes for mutations that can cause palmoplantar keratoderma-deafness syndrome. Mutation scanning/screening can be performed using techniques such as Sanger sequencing or next-generation sequencing (NGS) [9].
• Sequence analysis: Sequence analysis involves examining the entire coding region of a gene to identify any mutations or abnormalities that may be causing palmoplantar keratoderma-deafness syndrome [9].

Specialist Referrals and Diagnostic Tests

If you suspect that you or your child has palmoplantar keratoderma-deafness syndrome, it is essential to consult with a specialist, such as a dermatologist or geneticist. They can help determine the best course of action for diagnostic testing and provide guidance on how to proceed [10].

References:

[1] Context 5 [2] Context 2 [3] Context 3 [4] Context 8 [5] Context 1 [6] Context 9 [7] Context 11 [8] Context 8 [9] Context 9 [10] Context 10

Palmoplantar keratoderma-deafness syndrome, also known as Palmoplantar keratoderma with deafness, is a rare genetic disorder characterized by the combination of skin abnormalities and hearing loss. While there are no specific treatments that can cure this condition, various medications have been used to manage its symptoms.

Topical Treatments

• Topical keratolytics such as urea and salicylic acid have been used to soften and remove thickened skin on the palms and soles [8][9].
• Emollients and topical steroids can help reduce inflammation and itching associated with palmoplantar keratoderma [8].

Oral Medications

• Acitretin, a retinoid medication, has been reported to improve symptoms of palmoplantar keratoderma in some cases [11].
• Trametinib, an oral kinase inhibitor, was found to be effective in improving hereditary palmoplantar keratoderma in a case report [6].

Other Treatments

• Surgery and hearing aids may be necessary to address hearing loss associated with this condition [7].
• Cochlear implants can also be considered for individuals with severe hearing loss [7].

It's essential to note that these treatments are not specific to palmoplantar keratoderma-deafness syndrome and may have varying degrees of success in managing its symptoms. A qualified specialist should be consulted for personalized advice on treatment options.

References: [6] Improvement of hereditary palmoplantar keratoderma with oral trametinib. [7] Treatment · Deafness: Surgery, hearing aids, cochlear implant · Palmoplantar keratoderma: Oilments, emolients, keratolytic agents, topical retinoids ... [8] Conservative management of PPKs include topical keratolytics (such as urea and salicylic acid), emollients, topical steroids and retinoids, and physical ... [9] 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. · Benzoic ...

Palmoplantar keratoderma (PPK) associated with deafness can be a challenging condition to diagnose, as it shares similarities with other genetic and acquired disorders. A differential diagnosis for PPK-deafness syndrome may include:

• Vohwinkel syndrome: An autosomal dominant mutilating keratoderma characterized by palmoplantar keratoderma, hearing loss, and other extracutaneous features [5][8].
• Keratitis-ichthyosis-deafness (KID) syndrome: A rare genetic disorder that presents with palmoplantar keratoderma, ichthyosis, and sensorineural deafness [2].
• HID syndrome: Another rare genetic disorder characterized by palmoplantar keratoderma, hair loss, and ichthyosis [10].
• Olmsted syndrome: A rare genetic disorder that presents with palmoplantar keratoderma, congenital ichthyosiform dermatitis, and other extracutaneous features [10].
• Cowden syndrome: A genetic disorder characterized by punctate palmoplantar keratoderma, multiple hamartomas, and an increased risk of certain cancers [10].

In addition to these syndromes, acquired conditions such as:

• Contact dermatitis: Can cause hyperkeratotic lesions on the palms and soles [10].
• Hyperkeratotic hand eczema: A type of eczema that can present with thickening of the skin on the hands and feet [10].

It's essential to consider these differential diagnoses when evaluating a patient with PPK-deafness syndrome, as accurate diagnosis and management require a comprehensive understanding of the underlying condition.

References:

[2] - by R Gruber · 2017 · Cited by 41 [5] - Palmoplantar keratoderma associated with hearing loss occurs in individuals with Vohwinkel syndrome, an autosomal dominant mutilating keratoderma characterized ... [8] - Palmoplantar keratoderma associated with hearing loss occurs in individuals with Vohwinkel syndrome, an autosomal dominant mutilating keratoderma characterized ... [10] - - Palmoplantar keratoderma with deafness - KID syndrome - HID syndrome - Olmsted syndrome - Cowden syndrome - Contact dermatitis soles - Hyperkeratotic hand eczema