Keratosis follicularis spinulosa decalvans: Difference between revisions
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{{Infobox medical condition | |||
| name = Keratosis follicularis spinulosa decalvans | |||
| synonyms = KFSD | |||
| field = [[Dermatology]] | |||
| symptoms = [[Follicular hyperkeratosis]], [[alopecia]], [[photophobia]], [[corneal dystrophy]] | |||
| complications = [[Scarring alopecia]], [[visual impairment]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = [[Ichthyosis]], [[atopic dermatitis]], [[lichen planopilaris]] | |||
| treatment = [[Emollients]], [[keratolytics]], [[retinoids]], [[topical corticosteroids]] | |||
| prognosis = Variable, often progressive | |||
| frequency = Rare | |||
}} | |||
'''Keratosis Follicularis Spinulosa Decalvans''' ('''KFSD''') is a rare, X-linked, genodermatosis disorder characterized by keratotic follicular papules, progressive cicatricial alopecia, and associated with eye symptoms. It was first described by Macleod in 1909. | '''Keratosis Follicularis Spinulosa Decalvans''' ('''KFSD''') is a rare, X-linked, genodermatosis disorder characterized by keratotic follicular papules, progressive cicatricial alopecia, and associated with eye symptoms. It was first described by Macleod in 1909. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
KFSD is characterized by the presence of keratotic follicular papules, progressive cicatricial alopecia, and occasionally associated with photophobia, corneal dystrophy, and other ocular abnormalities. The onset of the disease usually occurs in infancy or early childhood, but late-onset forms of the disease have also been reported. | KFSD is characterized by the presence of keratotic follicular papules, progressive cicatricial alopecia, and occasionally associated with photophobia, corneal dystrophy, and other ocular abnormalities. The onset of the disease usually occurs in infancy or early childhood, but late-onset forms of the disease have also been reported. | ||
== Causes == | == Causes == | ||
KFSD is a genetic disorder that is inherited in an X-linked recessive manner. The exact genetic mutation that causes KFSD is currently unknown, but it is believed to involve a defect in the keratinization process of the hair follicle. | KFSD is a genetic disorder that is inherited in an X-linked recessive manner. The exact genetic mutation that causes KFSD is currently unknown, but it is believed to involve a defect in the keratinization process of the hair follicle. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of KFSD is primarily based on clinical findings. A skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be useful in confirming the diagnosis and for genetic counseling purposes. | The diagnosis of KFSD is primarily based on clinical findings. A skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be useful in confirming the diagnosis and for genetic counseling purposes. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for KFSD. Treatment is symptomatic and may include topical keratolytics, retinoids, and emollients. In severe cases, systemic retinoids may be used. Regular follow-up with an ophthalmologist is recommended for those with ocular involvement. | There is currently no cure for KFSD. Treatment is symptomatic and may include topical keratolytics, retinoids, and emollients. In severe cases, systemic retinoids may be used. Regular follow-up with an ophthalmologist is recommended for those with ocular involvement. | ||
== Prognosis == | == Prognosis == | ||
The prognosis of KFSD is variable. Some individuals may have mild symptoms and a relatively normal life expectancy, while others may experience severe symptoms and complications such as progressive hair loss and vision loss. | The prognosis of KFSD is variable. Some individuals may have mild symptoms and a relatively normal life expectancy, while others may experience severe symptoms and complications such as progressive hair loss and vision loss. | ||
== See Also == | == See Also == | ||
* [[Genodermatosis]] | * [[Genodermatosis]] | ||
* [[Alopecia]] | * [[Alopecia]] | ||
* [[Keratosis]] | * [[Keratosis]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
== External Links == | == External Links == | ||
* [[National Organization for Rare Disorders (NORD) - Keratosis Follicularis Spinulosa Decalvans]] | * [[National Organization for Rare Disorders (NORD) - Keratosis Follicularis Spinulosa Decalvans]] | ||
* [[Genetics Home Reference - Keratosis Follicularis Spinulosa Decalvans]] | * [[Genetics Home Reference - Keratosis Follicularis Spinulosa Decalvans]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatologic terminology]] | [[Category:Dermatologic terminology]] | ||
Latest revision as of 05:51, 4 April 2025
| Keratosis follicularis spinulosa decalvans | |
|---|---|
| Synonyms | KFSD |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Follicular hyperkeratosis, alopecia, photophobia, corneal dystrophy |
| Complications | Scarring alopecia, visual impairment |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | Ichthyosis, atopic dermatitis, lichen planopilaris |
| Prevention | N/A |
| Treatment | Emollients, keratolytics, retinoids, topical corticosteroids |
| Medication | N/A |
| Prognosis | Variable, often progressive |
| Frequency | Rare |
| Deaths | N/A |
Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare, X-linked, genodermatosis disorder characterized by keratotic follicular papules, progressive cicatricial alopecia, and associated with eye symptoms. It was first described by Macleod in 1909.
Symptoms and Signs[edit]
KFSD is characterized by the presence of keratotic follicular papules, progressive cicatricial alopecia, and occasionally associated with photophobia, corneal dystrophy, and other ocular abnormalities. The onset of the disease usually occurs in infancy or early childhood, but late-onset forms of the disease have also been reported.
Causes[edit]
KFSD is a genetic disorder that is inherited in an X-linked recessive manner. The exact genetic mutation that causes KFSD is currently unknown, but it is believed to involve a defect in the keratinization process of the hair follicle.
Diagnosis[edit]
The diagnosis of KFSD is primarily based on clinical findings. A skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be useful in confirming the diagnosis and for genetic counseling purposes.
Treatment[edit]
There is currently no cure for KFSD. Treatment is symptomatic and may include topical keratolytics, retinoids, and emollients. In severe cases, systemic retinoids may be used. Regular follow-up with an ophthalmologist is recommended for those with ocular involvement.
Prognosis[edit]
The prognosis of KFSD is variable. Some individuals may have mild symptoms and a relatively normal life expectancy, while others may experience severe symptoms and complications such as progressive hair loss and vision loss.
See Also[edit]
References[edit]
<references />
