punctate palmoplantar keratoderma type I

Description

Punctate palmoplantar keratoderma type I, also known as Buschke-Fischer-Brauer syndrome, is a rare hereditary skin disease characterized by the presence of small, hyperkeratotic papules on the palms and soles. These papules are typically yellow or brown in color and can be found on pressure-bearing sites.

This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disease. It is characterized by small, hyperkeratotic papules on the palms and soles, which can increase in number over time.

Punctate palmoplantar keratoderma type I is a rare condition, and its exact prevalence is unknown. However, it is considered to be one of the three main categories of punctate palmoplantar keratodermas, along with diffuse and focal types [3][7].

The symptoms of this condition can vary in severity and may include:

  • Small, hyperkeratotic papules on the palms and soles
  • Increased number of papules over time
  • Presence of papules on pressure-bearing sites

It's worth noting that punctate palmoplantar keratoderma type I is a rare condition, and its symptoms can be similar to those of other skin conditions. A proper diagnosis by a dermatologist or other medical professional is necessary for accurate identification and treatment [4][8].

References: [3] Knowles, A. (2023). PPKs are clinically classified into three main categories according to the area of the palms and soles affected: diffuse, focal, and punctate [1-2]. [7] Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary ... [4] Bukhari, R. (2019). Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25 ... [8] Bukhari, R. (2019). Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, ...

Additional Characteristics

  • Punctate palmoplantar keratoderma type I
  • Small, hyperkeratotic papules on the palms and soles
  • Increased number of papules over time
  • Presence of papules on pressure-bearing sites
  • Rare hereditary skin disease
  • Autosomal dominant pattern

Signs and Symptoms

Punctate palmoplantar keratoderma type I, also known as Buschke-Fischer-Brauer syndrome, is a rare hereditary skin disease that affects the palms and soles. The typical clinical characteristics of this condition include:

  • Multiple hyperkeratotic papules and central indentations that are irregularly distributed on the palms and soles [1].
  • Small, hard, round bumps or wart-like lesions on the pressure-bearing sites of the palms and soles [5][9].
  • These bumps can be yellow or brown in color and may increase in number over time [5].

In addition to these physical symptoms, individuals with punctate palmoplantar keratoderma type I may also experience:

  • Pain when walking due to the hardening of the skin on the soles [4].
  • Foot odor, excessive sweating, or maceration (moist, white and peeling) of the soles or between the toes [4].
  • Other symptoms such as follicular hyperkeratosis, angular cheilitis, oral leukokeratosis, hyperhidrosis, painful blisters, and hoarseness may also develop in some cases [8].

It's worth noting that punctate palmoplantar keratoderma type I is a rare condition, and the symptoms may vary from person to person. If you or someone you know is experiencing these symptoms, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Context result 1 [4] - Context result 4 [5] - Context result 5 [8] - Context result 8 [9] - Context result 9

Additional Symptoms

  • Hyperhidrosis
  • Angular cheilitis
  • Painful blisters
  • Multiple hyperkeratotic papules and central indentations
  • Small, hard, round bumps or wart-like lesions on the pressure-bearing sites of the palms and soles
  • Pain when walking due to the hardening of the skin on the soles
  • Foot odor, excessive sweating, or maceration (moist, white and peeling) of the soles or between the toes
  • Follicular hyperkeratosis
  • Oral leukokeratosis
  • hoarseness

Diagnostic Tests

Punctate palmoplantar keratoderma type I (PPPK1), also known as Buschke-Fischer-Brauer syndrome, is a rare hereditary skin disease characterized by the presence of small, punctate keratoses on the palms and soles. Diagnostic tests for PPPK1 are crucial in confirming the diagnosis.

Clinical History and Physical Features The diagnosis of PPPK1 can be made based on clinical history and physical features combined with histopathological findings [4]. A thorough examination of the skin, including the palms and soles, is essential to identify the characteristic punctate keratoses.

Histopathological Findings Histopathological examination of a biopsy sample from the affected area can confirm the diagnosis. The biopsy sample typically shows hyperkeratosis, acanthosis, and parakeratosis [4].

Other Diagnostic Tests While not specifically mentioned in the search results, other diagnostic tests such as genetic testing may also be considered to rule out other hereditary conditions that may present with similar symptoms.

In summary, the diagnosis of punctate palmoplantar keratoderma type I (PPPK1) can be made based on clinical history and physical features combined with histopathological findings. A biopsy sample from the affected area is essential to confirm the diagnosis.

References: [4] One can diagnose the various hereditary palmoplantar keratodermas based on clinical history and physical features combined with histopathological findings. In [9] Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by.

Additional Diagnostic Tests

  • Histopathological Findings
  • Clinical History and Physical Features

Treatment

Punctate palmoplantar keratoderma type I (PPPK1) is a rare genetic disorder characterized by the formation of small, punctate lesions on the palms and soles. While there is no cure for PPPK1, various treatments can help manage its symptoms.

Medications:

  • Low-dose oral acitretin: A study published in 2018 reported a case of PPPK1 treated with combination of low-dose oral acitretin (10 mg/day) and topical salicylic acid and steroid [1]. Another study from 2015 found that low-dose etretinate showed promise in managing PPPK1 [2].
  • Topical retinoids: Topical retinoids, such as alitretinoin, have been used to treat hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome) [9]. However, their effectiveness in treating PPPK1 type I is not well established.
  • Keratolytic agents: Keratolytic creams or gels containing salicylic acid can help remove the hyperkeratosis and reduce symptoms [3].

Other treatments:

  • Mechanical removal of hyperkeratosis: The most effective symptomatic treatment for PPPK1 is mechanical removal of the hyperkeratosis [4].
  • Emollients: Emollients can be used to moisturize the skin and reduce dryness [5].
  • Cyrotherapy: Cryotherapy, which involves freezing the affected area with liquid nitrogen, has been used in some cases to treat PPPK1 [7].

It's essential to note that each individual may respond differently to these treatments, and a healthcare professional should be consulted for personalized advice.

References:

[1] JW Jo (2018) - Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid. [2] T Nomura (2015) - Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work. [3] Management and treatment (2019) - Mechanical removal of the hyperkeratosis is the most effective symptomatic treatment. Keratolytic creams can support the treatment. [4] Apr 15, 2019 - Treatment includes emollients, topical retinoids, keratolytics, and topical steroids. [5] What is the treatment of palmoplantar keratoderma? (2024) - Emollients · Keratolytic agents (eg, 6% salicylic acid, 70% propylene glycol, 30% water) · Topical retinoids [6] JW Jo (2018) - Herein, we report a case of PPKP1 treated with combination of low-dose oral acitretin (10 mg/day) and topical salicylic acid and steroid. [7] May 2, 2024 - Cyrotherapy and keratolytic topical agents (salicylic acid in the form of poultices or a liquid) are the mainstay of treatment. A 10-second ... [8] by R Bukhari · 2019 · Cited by 10 — Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid . ; J ... [9] Alitretinoin: a new treatment option for hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome).

Recommended Medications

  • Emollients
  • Topical retinoids
  • Keratolytic agents
  • Low-dose oral acitretin
  • Mechanical removal of hyperkeratosis
  • Cyrotherapy

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Punctate palmoplantar keratoderma (PPPK) type I, also known as Buschke-Fischer-Brauer disease, is a rare genetic disorder characterized by the presence of tiny bumps on the palms and soles. When considering differential diagnosis for PPPK type I, several conditions should be taken into account.

  • Darier's disease: This is an autosomal dominant genodermatosis that presents with suprabasal acantholytic dyskeratoses, which can mimic the clinical appearance of PPPK type I [1].
  • Punctate porokeratoses: These are small, hyperkeratotic lesions that can appear on the palms and soles, similar to those seen in PPPK type I [3].
  • Basal cell nevus syndrome: This is a rare genetic disorder characterized by multiple basal cell carcinomas, which can be confused with the skin lesions present in PPPK type I [1].
  • Palmar pits: These are small depressions on the palms that can be mistaken for the tiny bumps seen in PPPK type I [3].

It's essential to note that a definitive diagnosis of PPPK type I is typically made based on clinical presentation, histopathological findings, and genetic testing. A thorough evaluation by a dermatologist or other healthcare professional is necessary to rule out these differential diagnoses.

References: [1] - Context result 1 [3] - Context result 3

Additional Differential Diagnoses

  • Punctate porokeratoses
  • Basal cell nevus syndrome
  • Palmar pits
  • disease

Additional Information

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A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles.
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punctate palmoplantar keratoderma type 1B
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.