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autosomal dominant keratosis follicularis spinulosa decalvans

Description

Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans (KFSD)

Keratosis follicularis spinulosa decalvans is a rare genodermatosis characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes [3][4]. This condition predominantly affects males during infancy or childhood [8].

Key Features:

  • Diffuse follicular hyperkeratosis
  • Progressive cicatricial (scarring) alopecia of the scalp, eyebrows, and eyelashes
  • Rare genodermatosis occurring during infancy or childhood
  • Predominantly affects males

Inheritance Pattern: Autosomal dominant inheritance is a pattern where a single copy of the mutated gene is enough to cause the condition [1][12]. This means that each child has a 50% chance of inheriting the mutated gene from an affected parent.

Other Information:

  • Marked facial erythema, extensive folliculitis, onychodystrophy, and multiple caries are frequently reported in the autosomal dominant variant [9].
  • KFSD is a rare genetic disorder with X-linked and autosomal dominant pattern of inheritance [7][15].

Note: The information provided is based on the search results and may not be an exhaustive list of all features or characteristics of autosomal dominant keratosis follicularis spinulosa decalvans.

Additional Characteristics

  • Diffuse follicular hyperkeratosis
  • Progressive cicatricial (scarring) alopecia of the scalp, eyebrows, and eyelashes
  • Rare genodermatosis occurring during infancy or childhood
  • Predominantly affects males
  • Marked facial erythema, extensive folliculitis, onychodystrophy, and multiple caries are frequently reported in the autosomal dominant variant

Signs and Symptoms

Autosomal dominant keratosis follicularis spinulosa decalvans (KFSD) is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the key features include:

  • Marked facial erythema: This condition often presents with significant redness and inflammation on the face, which can be quite noticeable [7].
  • Extensive folliculitis: KFSD is also associated with widespread inflammation of the hair follicles, leading to the formation of numerous small bumps or papules on the skin [7].
  • Onychodystrophy: This condition often affects the nails, causing them to become thickened, brittle, or discolored [7].
  • Multiple caries: In some cases, individuals with KFSD may experience an increased risk of developing tooth decay and cavities due to enamel defects [7].

It's worth noting that these symptoms can vary in severity and presentation from one individual to another. Additionally, the condition is often inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

References:

  • [7] Marked facial erythema, extensive folliculitis, onychodystrophy and multiple caries are frequently reported in the autosomal dominant variant.
  • [8] Additional symptoms may include photophobia, corneal dystrophy, facial erythema, and palmoplantar keratoderma.

Additional Symptoms

  • Onychodystrophy
  • Marked facial erythema
  • Extensive folliculitis
  • Multiple caries

Diagnostic Tests

Based on the search results, here are some diagnostic tests that may be relevant for autosomal dominant keratosis follicularis spinulosa decalvans:

  • Genetic testing: According to [6] and [8], genetic testing is available for autosomal dominant keratosis follicularis spinulosa decalvans. This can help confirm the diagnosis and identify the underlying genetic mutation.
  • Clinical evaluation: A thorough clinical evaluation by a dermatologist or other healthcare professional is essential for diagnosing this condition. They will examine the skin, hair, and nails to look for characteristic features such as keratosis pilaris, progressive cicatricial alopecia, and hyperkeratotic follicular papules [7].
  • Histopathological examination: A biopsy of the affected skin may be taken to confirm the diagnosis through histopathological examination. This can help rule out other conditions that may present with similar symptoms [10].

It's worth noting that a definitive diagnosis of autosomal dominant keratosis follicularis spinulosa decalvans is typically made based on a combination of clinical evaluation, genetic testing, and histopathological examination.

References: [6] Genetics test guide · Keratosis follicularis spinulosa decalvans, autosomal dominant [7] by M Castori · 2009 · Cited by 41 — Keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) is a rare genetic disorder characterized by the development of hyperkeratotic follicular papules ... [8] Genetics test guide · Keratosis follicularis spinulosa decalvans, autosomal dominant [10] Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia ...

Additional Diagnostic Tests

  • Clinical evaluation
  • Histopathological examination
  • Genetic testing

Treatment

Based on the search results, it appears that there are some reports of drug treatment for autosomal dominant keratosis follicularis spinulosa decalvans (KFSD).

  • Isotretinoin has been tried as a treatment option for KFSD, although its effectiveness is not well established [7].
  • Dapsone has also been used to treat KFSD, with some reports suggesting that it may be effective in reducing symptoms [7].

It's worth noting that these treatments are not specifically approved for autosomal dominant KFSD, and more research is needed to fully understand their effectiveness. Additionally, the search results suggest that there is no specific treatment for this disorder, and that emollients and topical corticosteroids may also be used to manage symptoms [12].

It's also important to note that the inheritance pattern of autosomal dominant KFSD means that a child only needs to inherit one copy of the mutated gene from either biological parent to be affected by the disease, which can make treatment more challenging [11].

References:

[7] - Therapy with isotretinoin and topical corticosteroids was without effect. [12] - However, drugs such as isotretinoin and dapsone have been tried; emollients, topical ...

💊 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

Based on the search results, it appears that differential diagnoses for autosomal dominant keratosis follicularis spinulosa decalvans (KFSD) include:

  • Ichthyosis follicularis alopecia photophobia (IFAP) syndrome [12]
  • Graham-Little-Piccardi-Lasseur syndrome (GLPLS) [12]

These conditions are mentioned in the context as potential differential diagnoses for KFSD. However, it's worth noting that the exact differential diagnosis may vary depending on the specific clinical presentation and other factors.

In terms of specific symptoms or characteristics that might help distinguish autosomal dominant KFSD from these differential diagnoses, the search results suggest that:

  • Marked facial erythema, extensive folliculitis, onychodystrophy, and multiple caries are frequently reported in the autosomal dominant variant [2]
  • Palmo-plantar keratoderma and early onset are more typical of the X-linked form, but may also be present in the autosomal dominant variant [2]

It's also worth noting that KFSD is a rare condition, and differential diagnoses may need to be considered on an individual basis. A thorough clinical evaluation and consultation with a specialist would be necessary to determine the most likely diagnosis.

References:

[12] Chintagunta S. Differential diagnoses for autosomal dominant keratosis follicularis spinulosa decalvans. [2020]

Note: The reference number corresponds to the search result number in the context provided.

Additional Differential Diagnoses

  • Ichthyosis follicularis alopecia photophobia (IFAP) syndrome
  • N syndrome

Additional Information

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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.