palmoplantar keratoderma and congenital alopecia 2

Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is a rare genetic disorder characterized by congenital alopecia, progressive hyperkeratosis, and other severe skin manifestations.

Key Features:

• Congenital Alopecia: PPKCA2 is associated with complete or partial hair loss at birth.
• Progressive Hyperkeratosis: The condition leads to thickening of the skin on the palms and soles, resulting in sclerodactyly (hardened skin), severe contractures, and tapering of the digits.
• Pseudoainhum Formation: A rare feature of PPKCA2 is the formation of pseudoainhum, a condition where the skin on the fingers or toes becomes hardened and resembles an inchworm-like appearance.
• Nail Changes: Some patients with PPKCA2 may experience nail changes, such as thickening or brittleness.

Inheritance Pattern: PPKCA2 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:

• [3] Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010).
• [12] Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010).
• [14] Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010).

Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is a rare genetic skin disorder that presents with several distinct signs and symptoms. Some of the key features include:

• Congenital alopecia: This refers to the condition where there is a complete or partial absence of hair on the scalp from birth.
• Progressive palmoplantar keratoderma: This involves the thickening of skin on the palms and soles, which can be diffuse or localized. The affected areas may become rough, brown, and scaly.
• Nail changes: Individuals with PPKCA2 may experience nail dystrophy, which refers to abnormalities in the shape, size, color, or texture of the nails.
• Cataracts: This is a condition where the lens of the eye becomes cloudy, leading to vision problems. In some cases, cataracts can be associated with PPKCA2.
• Progressive sclerodactyly: This refers to the thickening and hardening of skin on the fingers or toes, which can lead to limited mobility and flexibility.
• Pseudo-ainhum: Also known as "tree bark" skin, this is a condition where the skin on the hands or feet becomes thickened and scaly, resembling tree bark.

It's worth noting that these symptoms can vary in severity and may not be present in all individuals with PPKCA2. If you're experiencing any of these symptoms, it's essential to consult a healthcare professional for proper diagnosis and treatment.

References: * [8] - Even, widespread thickened skin (keratosis) over the palms and soles. * [9] - Congenital alopecia and progressive palmoplantar keratoderma. * [6] - Congenital alopecia and progressive palmoplantar keratoderma.

Diagnostic Features of Palmoplantar Keratoderma and Congenital Alopecia 2

Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia, progressive hyperkeratosis, sclerodactyly, severe contractures, tapering of the digits, pseudoainhum formation, and nail changes in some patients [4][14][15].

Diagnostic Tests

While there are no specific diagnostic tests mentioned for PPKCA2, a diagnosis can be confirmed by a consultant dermatologist based on clinical features such as diffuse palmoplantar keratoderma or focal keratoderma with or without nail involvement [8]. Additionally, genetic testing may be considered to confirm the autosomal recessive inheritance pattern of the disorder.

Key Diagnostic Features

• Congenital alopecia
• Progressive hyperkeratosis
• Sclerodactyly
• Severe contractures and tapering of the digits
• Pseudoainhum formation
• Nail changes in some patients

It is essential to note that a diagnosis of PPKCA2 should be made by a qualified healthcare professional, such as a dermatologist, based on a thorough clinical evaluation and possibly genetic testing.

References: [4] - [15] are citations from the provided context.

Treatment Options for Palmoplantar Keratoderma-Congenital Alopecia Type 2

Palmoplantar keratoderma-congenital alopecia type 2 (PPKCA2) is a rare genetic skin disorder characterized by absence of scalp and body hair, palmoplantar keratoderma, without other hand complications. While there are no specific or curative therapies for this condition, various treatments have been reported to improve symptoms.

Topical Treatments

• Topical compound ointment containing simvastatin-cholesterol has been successfully used in treating two patients with PPKCA2 [5][10].
• Keratolytics, such as 6% salicylic acid in white soft paraffin or a gel of 6% salicylic acid in 70% propylene glycol, have also been used to treat palmoplantar keratoderma and congenital alopecia-1 (PPKCA1) [7].

Oral Retinoids

• Acitretin has been reported to improve symptoms in patients with PPKCA2. A patient presented with pseudoainhum and resultant constricted hand mobility, which resolved with several months of treatment with acitretin, 25 mg daily [

Palmoplantar keratoderma (PPK) and congenital alopecia are rare genetic disorders that can be challenging to diagnose. The differential diagnosis for PPK and congenital alopecia 2 involves considering several other conditions that may present with similar symptoms.

Conditions to Consider:

• Ectodermal dysplasias: These are a group of disorders that affect the development of ectodermal tissues, including skin, hair, nails, teeth, and sweat glands. Ectodermal dysplasias can cause palmoplantar keratoderma and congenital alopecia.
• Keratinization disorders: These are conditions that affect the process of keratinization, which is the production of keratin proteins in the skin. Keratinization disorders can cause PPK and congenital alopecia.
• Hidrotic ectodermal dysplasia: This is a rare genetic disorder that affects the development of sweat glands, leading to palmoplantar keratoderma and other symptoms.
• Pachyonychia congenita: This is a rare genetic disorder that causes thickening of the skin on the palms and soles, as well as other symptoms such as nail abnormalities and alopecia.
• Acrodermatitis enteropathica: This is a rare genetic disorder that affects the development of skin and mucous membranes, leading to palmoplantar keratoderma and other symptoms.

Key Features to Consider:

• Genetic inheritance pattern: PPK and congenital alopecia 2 are inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for their child to inherit the condition.
• Clinical features: The clinical features of PPK and congenital alopecia 2 include palmoplantar keratoderma, congenital alopecia, sclerodactyly, nail abnormalities, and other symptoms.

References:

• [3] Palmoplantar keratoderma and congenital alopecia/hypotrichosis is also found in ectodermal dysplasias and keratinization disorders.
• [5] The differential diagnosis includes hidrotic ectodermal dysplasia of the Clouston type, pachyonychia congenita, acrodermatitis enteropathica, and other conditions that affect the development of skin and mucous membranes.
• [11] These features explain the preferential localization of palmoplantar keratoderma (PPK) and several of its characteristic clinical features.