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]

• Male Hypogonadism

  Secondary male hypogonadism and congenital ichthyosis. Association of two rare genetic diseases. Amer. J. hum. Genet. 12, 440–447 (1960) PubMed CAS Google Scholar McKusick, V. A.: Mendelian inheritance in man, 5th ed., p. 773. [link.springer.com]

• Gingival Hypertrophy

  Other interesting clinical findings were cutis hyperelastica, gingival hypertrophy, mongoloid palpebral fissures, big pinnae and clinodactyly of the 5th finger. [pubmed.ncbi.nlm.nih.gov]

• Alopecia

  The main clinical features of the disease are diffuse cutaneous follicular hyperkeratosis and progressive scarring alopecia of the scalp, eyebrows, and eyelashes. The alopecia may be patchy or generalized. [odermatol.com]

  Alopecia can broadly be classified as scarring and non-scarring. [ijtrichology.com]

  Cicatricial alopecia on the scalp and supercilium is the marking characterisitc of the disease. [scielo.br]

• Brittle Hair

  Scanning electronmicroscopy shows a brittle hair with cuticular abnormalities. [pubmed.ncbi.nlm.nih.gov]

  Reported absence of hairs at birth. As she grew fine, brittle and sparse hair appeared. It was not reported any other similar case in the family. No complaints of photophobia or case history of atopy. [scielo.br]

  Z Kinderheilkd 51: 1–19 Google Scholar Itin PH, Sarasin A, Pittelkow MR (2001) Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. [link.springer.com]

• 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]

  The skin of the eyelids is thickened often with an associated chronic blepharitis followed by entropion (ectropion sometimes mentioned). [disorders.eyes.arizona.edu]

  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]

• 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]

• Blurred Vision

  Therefore, corneal dystrophy may cause blurred vision or loss of vision. Occasionally, the teeth become stained and fingernails are poorly formed. [rarediseases.org]

• Apraxia

  APTX Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano AR DESCRIPCIÓN Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano: Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid [genaden.com]

• Spastic Paralysis

  Congenital ichthyosis, spastic paralysis, and oligophrenia. Arch. Derm. 92, 545–552 (1965) PubMed CAS Google Scholar Gilbert, W.R.,Jr., Smith, J.L., Nyhan, W.L.: The Sjogren-Larsson syndrome. Arch. [link.springer.com]

• Quadriplegia

  Mental defect, quadriplegia and ichthyosis. Report of two cases in one family and a review of the literature. Amer. J. Dis. Child. 100, 924–929 (1960) PubMed CAS Google Scholar Selmanowitz, V.J., Porter, M.J.: Sjogren–Larsson syndrome. Amer. J. [link.springer.com]

[…] 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]

Treatment in this circumstance is reduced only to the use of topical paliative medication. [scielo.br]

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]

The treatment options for KFSD may include both medical and surgical treatment measures. [dovemed.com]

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]

2016/17/3/223/179502 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]

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]

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]

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]