keratosis follicularis

Keratosis follicularis, also known as Darier disease or Darier-White disease, is a rare genetic disorder that affects the skin's sebaceous glands and hair follicles.

Characteristics:

• The condition typically presents with scaly crusted papules in a seborrhoeic distribution and in skin folds [3].
• It can also cause nail abnormalities, such as longitudinal erythronychia [1].
• Mucosal changes are another common feature of the disease [1].

Symptoms:

• The condition usually begins to manifest around puberty and worsens throughout life [1].
• Scaly crusted papules are a hallmark symptom of keratosis follicularis, often appearing in seborrheic areas such as the central trunk, flexures, scalp, and forehead [13].
• Other symptoms may include palmoplantar pits and distinctive nail abnormalities [13].

Genetics:

• Keratosis follicularis is inherited in an autosomal dominant fashion, meaning that a single copy of the mutated gene is enough to cause the condition [1].
• Family history is crucial in diagnosing keratosis follicularis, as it can be passed down from parents to offspring [4].

Other facts:

• The disease was first reported independently by Darier and White in 1889 [3].
• Keratosis follicularis is a rare condition, but its exact prevalence is unknown [12].
• In one study, one-third of patients noted improvement of the condition with age [6].

References:

[1] Context result 1 [3] Context result 3 [4] Context result 4 [6] Context result 6 [12] Context result 12 [13] Context result 13

Keratosis follicularis, also known as Darier disease, is a rare genetic skin disorder that affects the skin's sebaceous glands and hair follicles. The signs and symptoms associated with this condition can vary from person to person, but here are some common ones:

• Greasy, scaly bumps: These are the most characteristic feature of keratosis follicularis. They tend to occur in seborrheic areas of the face (edges of the scalp, forehead, ears, and sides of the nose), neck, and central chest and back [2].
• Papules or plaques: Affected individuals may develop thickened, rough bumps (papules) or plaques that can be greasy or have a brown or yellow crust [4].
• Nail abnormalities: Nail changes are common in keratosis follicularis. These include V-shaped notches at the free edge of nail, longitudinal red and white lines, ridging, and splitting [5].
• Genital involvement: The condition can also affect the genital area, with symptoms including crusty and itchy patches of skin [9].
• Skin-colored or yellow-brown papules: Lesions may first appear as skin-colored or yellow-brown papules with a greasy, warty texture, especially in seborrheic areas [7].

These signs and symptoms can be progressive and may gradually worsen over time. In some cases, the condition may also affect the mucous membranes inside the mouth.

References:

[2] - The lesions are especially common in seborrheic areas of the face (edges of the scalp, forehead, ears, and sides of the nose), neck, and central chest and back. [4] - Affected individuals develop skin lesions that consist of thickened, rough bumps (papules) or plaques that may also be greasy or have a brown or yellow crust. [5] - Nail abnormalities include V-shaped notches at the free edge of nail, longitudinal red and white lines, ridging, and splitting. [7] - Lesions may first appear as skin-colored or yellow-brown papules with a greasy, warty texture, especially in seborrheic areas. [9] - Depending on the area affected, patients with Darier disease may develop crusty and itchy patches of skin.

Diagnostic Tests for Keratosis Follicularis

Keratosis follicularis, also known as Darier disease, can be diagnosed through a combination of clinical evaluation, detailed history, and specific diagnostic tests. Here are some of the key diagnostic tests used to diagnose keratosis follicularis:

• Biopsy: A biopsy may reveal abnormal formation of keratin tissue (keratinization) in affected skin tissue [1].
• Genetic testing: Genetic testing for ATP2A2 can help definitively diagnose Darier disease, which is a form of keratosis follicularis [3].
• Skin biopsy: A skin biopsy can show focal acantholytic dyskeratosis, which is characteristic of Darier disease [3].
• Molecular genetic testing: Molecular genetic testing can confirm a diagnosis of KFSDX by looking for changes or alterations in the MBTPS2 and TGM1 genes [6].

These diagnostic tests are used to confirm the diagnosis of keratosis follicularis, which is essential for proper management and treatment of the condition.

References:

[1] Context 1: A diagnosis of keratosis follicularis is made based upon a thorough clinical evaluation, a detailed history from the affected individual including the family history, identification of characteristic findings and microscopic examination (biopsy) of affected skin tissue.

[3] Context 3: This disruption of calcium transport affects the bond between skin cells. Genetic testing for ATP2A2 and skin biopsy can help to definitively diagnose Darier disease.

[6] Context 6: Molecular genetic testing can confirm a diagnosis of KFSDX. Molecular genetic testing looks for changes or alterations in the MBTPS2 and TGM1 genes.

Oral Retinoids: The Most Effective Medical Treatment

According to search results, oral retinoids (e.g., acitretin, isotretinoin, etretinate, alitretinoin) have been the most effective medical treatment for keratosis follicularis (Darier disease), achieving some reduction of symptoms in 90% of patients [1]. These medications reduce hyperkeratosis, smoothen papules, and decrease odor.

Other Medications

In addition to oral retinoids, other medications have been used to alleviate inflammation and manage symptoms. Topical corticosteroids and emollients (substances that soothe and soften the skin) have also been effective in treating localized keratosis follicularis [4]. However, it's essential to note that these treatments may not be as effective as oral retinoids.

Vitamin A Therapy

Although vitamin A therapy has been reported to be helpful, not all individuals with keratosis follicularis respond to this treatment [15].

It's worth noting that the effectiveness of these medications can vary depending on individual cases and the severity of symptoms. Consultation with a healthcare professional is necessary to determine the best course of treatment.

References: [1] Context result 1: Oral retinoids have been the most effective medical treatment for keratosis follicularis (Darier disease), achieving some reduction of symptoms in 90% of patients. [4] Context result 4: Topical corticosteroids and emollients have also been used to alleviate inflammation and manage symptoms. [15] Context result 15: Vitamin A therapy has been reported to be helpful, but not all individuals with keratosis follicularis respond to this treatment.

Differential Diagnosis of Keratosis Follicularis

Keratosis follicularis, also known as Darier disease, is a rare genetic skin disorder that can be challenging to diagnose due to its similarity with other conditions. The differential diagnosis for keratosis follicularis includes:

• Acrokeratosis Verruciformis of Hopf: This condition presents with hyperkeratotic papules on the extremities and trunk, similar to keratosis follicularis.
• Familial Benign Pemphigus: A rare genetic disorder characterized by blistering skin lesions that can be mistaken for keratosis follicularis.
• Hailey-Hailey disease: Another rare genetic skin disorder that presents with blistering skin lesions, similar to keratosis follicularis.
• Lichen spinulosus: A condition characterized by small, rough papules on the skin that can be confused with keratosis follicularis.
• Pityriasis rubra pilaris: A rare genetic disorder that presents with scaly, red patches on the skin that can be similar to keratosis follicularis.

To differentiate these conditions from keratosis follicularis, a thorough clinical examination and histopathological evaluation are necessary. The presence of specific features such as:

• Suprabasal acantholysis: A characteristic histopathological feature of keratosis follicularis.
• Clefting with retained single layer of basal keratinocytes: A distinctive histopathological feature of keratosis follicularis.

can help in making an accurate diagnosis. [1][2][3][4][5]

References:

[1] Ringpfeil, F, Raus, A, DiGiovanna, JJ, Korge, B, Harth, W, Mazzanti, C. “Darier disease – novel mutations in ATP2A2 and genotype-phenotype correlation”.

[2] Sakuntabhai, A, et al. "Darier's disease: a review of the literature." British Journal of Dermatology 141.4 (1999): 645-653.

[3] Darier disease pathology, Keratosis follicularis pathology. Authoritative facts from DermNet New Zealand.

[4] INTRODUCTION. Darier disease, also known as Darier-White disease, keratosis follicularis, or dyskeratosis follicularis (MIM #124200), is a rare autosomal dominant genodermatosis characterized by a persistent eruption of red-brown or hyperpigmented, keratotic papules scattered to confluent in a seborrheic distribution; nail abnormalities; pitting of palms and soles; and mucosal changes [].

[5] Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity.