Presentation
The treatment is frustating, with a few reports of slight improvement in cases at an early stage that present a major inflammatory component. [scielo.br]
Abstract Keratosis follicularis is an X linked recessive disorder which presents with keratotic follicular papules on face with progressive scarring alopecia. [edoj.org.eg]
We hereby present a case report of KFSD, a rare cause of scarring alopecia in siblings. [scribd.com]
Her scalp examination revealed complete loss of hairs except for a few tuft of hairs present over frontal region [Figure 2]. Sparse hairs were present over eyebrows. Palms and soles were normal. Nails did not reveal any abnormality. [ijpd.in]
Respiratoric
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Rhinitis
There was retention of deciduous teeth along with occasional rhinitis. On cutaneous examination, there were large areas of scarring alopecia with multiple follicular papules and pustules were present over the scalp (Fig 1). [edoj.org.eg]
(c and d) CT scan showing (c) lacrimal mucocoele and (d) ethmoidal mucocoele Click here to view The girl's 35-year-old mother had similar complaints including allergic rhinitis since the age of six. [ijdvl.com]
Gastrointestinal
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Regurgitation
Ophthalmological examination revealed telecanthus with regurgitation of mucopurulent discharge through the lacrimal sac punctii. A 99mTc-pertechnetate dacryoscintigraphy revealed proximal left nasolacrimal duct obstruction. [ijdvl.com]
Eyes
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Blepharitis
Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). [malacards.org]
[…] follicularis spinulosa decalvans, X-linked A rare X-linked disorder (OMIM:308800) characterised by thickening of the skin of the neck, ears and extremities, especially the palms and soles; loss of eyebrows, eyelashes and beard; thickening of the eyelids with blepharitis [medical-dictionary.thefreedictionary.com]
Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. [uniprot.org]
The skin of the eyelids is thickened often with an associated chronic blepharitis followed by entropion (ectropion sometimes mentioned). [disorders.eyes.arizona.edu]
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Lacrimation
We describe two such cases in a family, a mother and her daughter who had ethmoidal and lacrimal sac mucocoeles as well. [ijdvl.com]
Skin
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Alopecia
Alopecia can broadly be classified as scarring and non-scarring. [ijtrichology.com]
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Decreased Hair Growth
Follicular papules and alopecia seen over the scalp along with sparse eyebrows and eyelashes Follicular keratotic papules over dorsum of hand Our second case was a 26-year-old male with decreased hair growth over scalp and body. [ncbi.nlm.nih.gov]
Figure 1: Follicular papules and alopecia seen over the scalp along with sparse eyebrows and eyelashes Click here to view Our second case was a 26-year-old male with decreased hair growth over scalp and body. [ijtrichology.com]
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Leukonychia
Keratosis Follicularis Spinulosa Decalvans Associated wıth Leukonychia The Editor, Sir, Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-linked disorder characterized by diffuse follicular hyperkeratosis, progressive scarring alopecia of [mona.uwi.edu]
[…] spinulosa decalvans. ( 27051769 ) Doche I....Romiti R. 2015 8 Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin. ( 26515859 ) Gupta D....Parida P.K. 2015 9 Keratosis Follicularis Spinulosa Decalvans Associated wA th Leukonychia [malacards.org]
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Brittle Hair
Dermatological exam: hyperkeratotic papules associated with hipotrichosis, with fine, short, opaque and brittle hair, affecting the scalp, eyelashes and superciliums; follicular keratotic papules on the trunk and limbs. ( Pictures 1, 2 and 3 ). [scielo.br]
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Photosensitivity
There was history of exacerbation in summers along with photosensitivity. There was retention of deciduous teeth along with occasional rhinitis. [edoj.org.eg]
Psychiatrical
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Psychomotor Retardation
Psychomotor retardation – An unusual association of keratosis follicularis spinulosa decalvans. [ijpd.in]
retardation - an unusual association of keratosis follicularis spinulosa decalvans. ( 20877117 ) Masood Q....Majid I. 2000 24 Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. ( 9598732 ) 1998 25 Cicatricial alopecia [malacards.org]
Psychomotor retardation – An unusual association of keratosis follicularis spinulosa decalvans. Indian J Dermatol Venereol Leprol 2000;66:320-1. [ PUBMED ] [Full text] 6. Britton H, Lustig J, Thompson BJ, Meyer S, Esterly NB. [ijtrichology.com]
Workup
[…] and defective barrier functions. [4] Autosomal dominant mode of inheritance has been noted. [5] Apart from that sporadic cases have also been described and theory of Lyonization More Details is proposed. [4], [6] Proper family history and appropriate workup [ijpd.in]
X-Ray
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Pericardial Effusion
Here, we report a Cypriot girl that diagnosed KFSD that do not have any family history. [1], [2] Case Report The case was under the examination since 30 weeks of intrauterine life with prenatal double sac and intrauterine pericardial effusion. [ijpd.in]
Treatment
Treatment: Different systemic treatments including isotretinoin, etretinate, dapsone and antibiotics have been tried with varied results. [medigoo.com]
Multiple topical and systemic treatments have been unsuccessful in this patient, attesting to the treatment refractoriness typically seen in KFSD. Figure 1. Thinning of Eyebrows and Partial Loss of Eyelashes. Figure 2. [scidoc.org]
Treatment in this circumstance is reduced only to the use of topical paliative medication. [scielo.br]
The treatment options for KFSD may include both medical and surgical treatment measures. [dovemed.com]
Prognosis
However, the overall prognosis may depend upon the severity of the symptoms, the response to treatment, and severity of the associated condition (if any) The other types of keratosis pilaris include: Atrophoderma Vermiculata (or Folliculitis Ulerythematosa [dovemed.com]
There is photophobia in childhood, but the symptoms tend to diminish after puberty, and prognosis for vision is good. Some heterozygotes do show clinical symptoms. [rug.nl]
Photophobia is a regular feature caused by sub epithelial opacities in the bowman's membrane and is found predominantly in children[ 6 ].Visual prognosis is good. [edoj.org.eg]
Materials and Methods This paper reviews the different aspects of KFSD, including pathogenesis, clinical, histological, differential diagnosis and different therapeutic modalities and their impact on the prognosis of the disease. [omicsonline.org]
Etiology
Available from: Introduction Keratosis follicularis spinulosa decalvans (KFSD) is a rare disease with unknown etiology. [ijpd.in]
Just as there is limited information about the etiology, pathology and histology of scalp Keratosis Follicularis Spinulosa Decalvans, there is no defined course of treatment either. [keratin.com]
Synonym: lichen ruber planus See: illustration Etiology The cause of the rash is unknown, but it is occasionally associated with the use of chemicals (such as photoprocessing compounds, gold) or medications (such as beta blockers, diuretics, nonsteroidal [medical-dictionary.thefreedictionary.com]
Etiology IFAP syndrome results from missense mutations in the membrane-bound transcription factor protease site 2 ( MBTPS2 ) gene [ 17 ]. [ojrd.biomedcentral.com]
Epidemiology
Although progress has been made in other areas of dermatology, the epidemiology and therapy of the varied forms of scarring alopecia continue to be elusive and obscure. [keratin.com]
Epidemiology The association of ichthyosis follicularis, atrichia, and photophobia was first reported as a syndrome by MacLeod in 1909 in three boys [ 1 ]. [ojrd.biomedcentral.com]
Pathophysiology
The process of lionization may explain expression of KFSD in women.The pathophysiology of the destruction of the pilar follicle is not well known yet. [medigoo.com]
Palm-plantar hyperkeratosis, photophobia, corneal abnormalities and atopies can be associated. 1 Men are more seriously affected by the disease. 1 The pathophysiology of the destruction of the pilar follicle is not well known yet. [scielo.br]
Prevention
Currently, there are no specific methods or guidelines to prevent Keratosis Follicularis Spinulosa Decalvans. [dovemed.com]
Therefore, pharmacological activation of PPARgamma and/or induction of SSAT may represent a therapeutic or preventive strategy for treating colorectal cancer [4]. [wikigenes.org]
Spin City An American Deputy Mayor in Paris (TV-14) When Caitlin unexpectedly travels to Paris to elope with Trevor, Mike chases after her to prevent the marriage and confess his true feelings for her. [titantvguide.titantv.com]