palmoplantar keratoderma and woolly hair

Palmoplantar Keratoderma and Woolly Hair (PPKWH) Disorder

Palmoplantar keratoderma and woolly hair is a rare, autosomal recessive disorder characterized by the presence of cardinal features such as palmoplantar keratoderma (thickening of skin on palms and soles) and woolly hair. This condition is also known as Woolly Hair-Palmoplantar Keratoderma Syndrome.

Key Features:

• Palmoplantar Keratoderma: Thickening of the skin on the palms and soles, which can lead to calluses or thickened patches.
• Woolly Hair: Scalp hair that is thin, fine, and often described as "woolly" in texture.
• Absence of Sweat Glands: In some cases, individuals with PPKWH may have an absence or underdevelopment of sweat glands.

Other Associated Features:

• Skin fragility
• Blistering and erosions due to minimal trauma
• Hypotrichosis (sparse body hair)
• Sparse scalp hair

Inheritance Pattern: PPKWH is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

References:

• [1] PPKWH is characterized by palmoplantar keratoderma and woolly hair, with the absence of sweat glands in some cases. [4]
• The cardinal features of PPKWH include palmoplantar keratoderma and woolly hair. [1][4]
• Individuals with PPKWH may also experience skin fragility, blistering, and erosions due to minimal trauma. [5][9]

Palmoplantar keratoderma (PPK) and woolly hair syndrome is a rare, hereditary epidermal disorder characterized by several distinct signs and symptoms.

Skin Symptoms:

• Palmoplantar Keratoderma: A marked thickening of the skin on the palms and soles, which can be either focal or diffuse.
• Striate Palmoplantar Keratoderma: A type of PPK that is more severe on the soles than the palms.
• Skin Thickening: The skin on the hands and feet becomes rough and scaly.

Hair Symptoms:

• Woolly Hair: Tightly coiled, frizzy, or difficult-to-comb hair on the scalp, which can be apparent at birth.
• Sparse Body Hair: Reduced body hair, including eyelashes and eyebrows.
• Leukonychia: White spots or patches on the nails.

Other Symptoms:

• Cardiomyopathy: Although not a characteristic of Type IV PPK, cardiomyopathy has been associated with other types of PPK.
• Skin Fragility: Some individuals may experience skin fragility, leading to blistering and erosions due to minimal trauma.

These symptoms can vary in severity and progression, but they are generally present from birth or early childhood. The condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the syndrome.

Diagnostic Tests for Palmoplantar Keratoderma (PPK) and Woolly Hair

Palmoplantar keratoderma (PPK) is a rare, hereditary epidermal disorder characterized by thickening of the skin on the palms and soles. It can be associated with woolly hair, sparse body hair, eyelashes, and eyebrows. Diagnostic tests are essential to confirm the diagnosis and rule out other conditions.

Genetic Testing

• KANK2 Gene: Mutations in the KANK2 gene have been identified as a cause of PPK with woolly hair (98). Genetic testing for the KANK2 gene can be performed to confirm the diagnosis.
• 26-Gene Panel: A 26-gene panel that includes assessment of non-coding variants is ideal for patients presenting with palmoplantar keratoderma, including those with associated woolly hair (6).

Clinical Genetic Tests

• Intergen Clinical Genetic Test: Intergen offers a clinical genetic test for conditions, including PPK and woolly hair-palmoplantar keratoderma syndrome (1).
• PreventionGenetics Clinical Genetic Test: PreventionGenetics, part of Exact Sciences, also offers a clinical genetic test for conditions, including PPK and woolly hair-palmoplantar keratoderma syndrome (5).

Other Diagnostic Tests

• Skin Biopsy: A skin biopsy may be performed to rule out other conditions that can cause thickening of the skin on the palms and soles.
• Imaging Studies: Imaging studies, such as X-rays or MRI scans, may be ordered to evaluate any associated skeletal abnormalities.

It is essential to consult with a genetic counselor or a dermatologist to determine the best course of action for diagnostic testing. They can help interpret the results and provide guidance on further management.

References:

[1] Intergen Clinical Genetic Test

Treatment Options for Palmoplantar Keratoderma and Woolly Hair

Palmoplantar keratoderma (PPK) is a group of rare skin disorders characterized by thickening of the skin on the palms and soles, often accompanied by woolly hair. While there are various treatment options available, drug therapy plays a crucial role in managing this condition.

Topical Treatments

• Topical retinoids: These have shown significant therapeutic efficacy in treating PPK (4). Topical retinoids can help reduce skin thickening and improve symptoms.
• Keratolytic agents: Salicylic acid, propylene glycol, and water-based keratolytics are commonly used to soften and remove the thickened skin (4).

Oral Medications

• Acitretin: This oral retinoid has been reported to show remarkable improvement in PPK within 2 months of therapy (3). However, it's essential to note that treatment outcomes may vary depending on individual cases.

Other Therapeutic Options

• Mechanical treatments: Debridement and excision are sometimes necessary to remove thickened skin and improve symptoms.
• Topical steroids: These can be used to reduce inflammation and itching associated with PPK (8).

It's essential to consult a qualified specialist for proper diagnosis and treatment, as the effectiveness of these therapies may vary depending on individual cases. Additionally, mechanical treatments and topical retinoids have shown significant therapeutic efficacy in managing PPK symptoms.

References: [3] - Remarkable improvement in palmoplantar keratoderma was noticed within 2 months of oral acitretin therapy [Figure 4]. [4] - Keratolytic agents (eg, 6% salicylic acid, 70% propylene glycol, 30% water) · Topical retinoids ... [8] - Treatment is difficult, and only mechanical treatments, topical retinoids, and topical steroids have shown significant therapeutic efficacy.

Palmoplantar keratoderma (PPK) can be associated with various syndromes, including those that feature woolly hair. The differential diagnosis for PPK and woolly hair includes:

• Skin fragility-woolly hair-palmoplantar keratoderma syndrome: This is a rare autosomal recessive disorder characterized by skin fragility, woolly hair, and palmoplantar keratoderma [2].
• Woolly hair and palmoplantar hyperkeratosis: This is an infrequent autosomal recessive ectodermal disorder that may be associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) [3].
• Carvajal syndrome (keratoderma with woolly hair type 2): This is a genetically inherited syndrome characterized by left ventricular dilated cardiomyopathy, woolly hair, and palmoplantar keratoderma [9].

These conditions are rare and may require genetic testing for diagnosis. A thorough medical evaluation, including physical examination and laboratory tests, is necessary to determine the underlying cause of PPK and woolly hair.

It's worth noting that acquired forms of palmoplantar keratoderma should also be considered in the differential diagnosis, such as those caused by friction or inflammatory disorders [5].