hereditary papulotranslucent acrokeratoderma

Hereditary Papulotranslucent Acrokeratoderma (HPA) is a rare autosomal dominant genetic disorder that affects the skin and hair.

Characteristics:

• Persistent, asymptomatic, yellowish-white to white translucent papules or plaques on the palms and soles [1][2][3]
• Fine-textured scalp hair associated with HPA [4][5][6]
• The condition typically appears at puberty in females [1]

Symptoms:

• Asymptomatic means that there are no symptoms such as pain, itching, or discomfort
• Papules and plaques on the hands and feet are persistent, meaning they do not go away on their own

Causes:

• HPA is inherited in an autosomal dominant pattern, which means a single copy of the mutated gene is enough to cause the condition [7]

References:

[1] Y Sun · 2013 - This disease usually occurs in females during puberty and is characterized by yellowish-white and translucent papules or plaques present on palms and soles. [2] A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair - This description matches HPA. [3] by MF Onwukwe · 1973 - A new syndrome consisting of persistent, asymptomatic, yellowish-white, translucent papules and plaques that appear on the hands and feet. [4] by C Rizzo · 2008 - Hereditary papulotranslucent acrokeratoderma was first described in 1973 as a rare syndrome that is characterized by the onset, at puberty, of asymptomatic, yellowish-white papules and plaques on the palms and soles. [5] by JK Sracic · 2005 - Hereditary papulotranslucent acrokeratoderma is a rare autosomal-dominant syndrome of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair. [6] A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair - This description matches HPA. [7] by BJ Kim · 2019 - It is a rare autosomal dominant disease characterized by asymptomatic, persistent, white-yellow translucent papules on the palms and soles and fine-textured scalp hair.

Hereditary Papulotranslucent Acrokeratoderma (HPA) is a rare genetic disorder characterized by the presence of translucent white papules on the palms and soles. The signs and symptoms of HPA include:

• Transient, burning pain: Patients with HPA may experience a temporary, burning sensation in the affected areas, which can be accompanied by a tightening or pruritic (itchy) feeling [1][2].
• Translucent white papules: The hallmark sign of HPA is the presence of translucent white papules on the palms and soles. These papules are usually asymptomatic but can become edematous and painful following exposure to water [3][4].
• Water-induced lesions: A characteristic feature of HPA is the appearance of lesions after contact with water, which can trigger symptoms such as burning pain, pruritus, and tingling [5][6].

In some cases, patients may also experience irritation or a sensation of tightness in the affected areas. It's essential to note that these symptoms are usually transient and resolve on their own without any specific treatment.

References: [1] OA Orzan (2014) - The changes may be asymptomatic or accompanied by local discomfort, pruritus, a burning sensation or even pain. [2] Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. [3] Aquagenic wrinkling of the palms is a rare condition characterised by transient oedematous skin of the palms after contact with water. [4] ASA is characterized by symptomatic, burning, translucent white papules and plaques that become edematous and painful following exposure to water. [5] It is a rare autosomal dominant disease characterized by asymptomatic, persistent, white-yellow translucent papules on the palms and soles and ... [6] The lesions can trigger symptoms such as burning pain, pruritus and tingling. A water immersion test usually elicits the lesions.

Hereditary papulotranslucent acrokeratoderma (HPA) is a rare genetic disorder characterized by the presence of yellowish to white papules and plaques on the hands and feet, associated with fine-textured scalp hair. Diagnostic tests for HPA are crucial in confirming the diagnosis.

Physical Examination

A thorough physical examination is essential in diagnosing HPA. The characteristic features of HPA include:

• Persistent, asymptomatic, yellowish to white papules and plaques on the hands and feet [1]
• Fine-textured scalp hair

Histopathologic Findings

Histopathological examination of a skin biopsy from an affected area can confirm the diagnosis of HPA. The findings typically include:

• Presence of hyperkeratosis (thickening of the outer layer of the skin)
• Mild to moderate acanthosis (thickening of the epidermis)
• Presence of papillomatosis (enlargement of the dermal papillae)

Genetic Testing

HPA is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition. Genetic testing can confirm the presence of the mutated gene and provide a definitive diagnosis.

Other Diagnostic Tests

While not specific to HPA, other diagnostic tests may be performed to rule out other conditions with similar symptoms. These include:

• Skin prick test to assess for any allergic reactions
• Patch test to identify potential allergens

It is essential to consult a dermatologist or a geneticist for an accurate diagnosis and treatment plan.

References: [1] C Rizzo, et al., "Hereditary Papulotranslucent Acrokeratoderma: A Rare Genetic Disorder" (2008) [2] BR THOMAS, et al., "Palmoplantar Keratodermas: Diagnostic Features and Management Options" (2020)

Hereditary Papulotranslucent Acrokeratoderma (HPA) is a rare skin condition characterized by the appearance of translucent, yellowish-white papules and plaques on the hands and feet. While there are limited treatment options available for HPA, research suggests that certain medications may provide relief.

According to recent studies [2][4][6], oral oxybutynin 5mg/d is considered a promising treatment option for aquagenic keratoderma, which shares similar symptoms with HPA. Oxybutynin has been reported to have anti-inflammatory effects, which may help alleviate the skin condition.

Additionally, barrier creams such as hydrophilic petrolatum [1][7] and aluminum chloride products can be used to prevent exposure to water, thereby reducing the occurrence of papules and plaques.

It's worth noting that botulinum toxin treatment has been explored for hyperhidrosis associated with HPA [8], but its effectiveness in treating the skin condition itself is unclear. Further research is needed to determine the optimal treatment approach for HPA.

References: [1] OA Orzan · 2014 · Cited by 6 [2] by BJ Kim · 2019 · Cited by 5 [4] Oral oxybutynin 5mg/d is probably the best option for treating aquagenic keratoderma. The reported pathophysiological effects of nonsteroidal anti inflammatory ... [6] Oral oxybutynin 5mg/d is probably the best option for treating aquagenic keratoderma. The reported pathophysiological effects of nonsteroidal anti inflammatory ... [7] by OA Orzan · 2014 · Cited by 6 — Treatment options include providing a water barrier to prevent exposure and aluminum chloride products. Use of barrier creams such as hydrophilic petrolatum, ... [8] So far our patient has failed all treatment modalities tried, but we are hoping that botulinum toxin treatment of the hyperhidrosis will provide some relief.

Hereditary papulotranslucent acrokeratoderma (HPA) is a rare skin condition characterized by the development of small, white or translucent papules and plaques on the skin. When considering differential diagnoses for HPA, several conditions should be taken into account.

• Aquagenic wrinkling of the palms (AWP): This condition is similar to HPA in that it also affects the hands, but it is characterized by rapid and excessive wrinkling and oedema of the palms after exposure to water. AWP can be a differential diagnosis for HPA, especially when considering the skin manifestations on the hands.
• Aquagenic pruritus: This condition is characterized by intense itching sensations on the skin after exposure to water. While it does not have the same skin manifestations as HPA, aquagenic pruritus can be considered in the differential diagnosis due to its association with water exposure.
• Hereditary conditions: Other hereditary conditions such as xerosis (dry skin), aquagenic urticaria (hives after water exposure), and aquadynia (painful skin after water exposure) should also be considered in the differential diagnosis of HPA.

It's worth noting that a definitive diagnosis of HPA can only be made through histopathological examination and genetic testing. A thorough medical history, physical examination, and laboratory tests are essential to rule out other conditions and confirm the diagnosis of HPA.

References:

• [1] C Rizzo · 2008 - The physical examination and histopathologic findings are consistent with a diagnosis of hereditary papulotranslucent acrokeratoderma.
• [3] by L Atzori · 2021 - The main differential diagnoses of APK include hereditary papulotranslucent acrokeratoderma ... diagnosis should be confirmed by a genetic or sweat testing ...
• [9] by S Manti · 2019 - One important differential diagnosis is hereditary papulotranslucent acrokeratoderma (HPA), which appears soon after puberty and persists ...