Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “KERATOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 469 records · Page 26Linked to original sources
PubMed1995

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting the skin and eyes. The disease was previously mapped in an extended Dutch family to Xp21.2-p22.2 between DXS16 and DXS269. Using five DNA probes and 14 CA repeat polymorphisms spanning this region an extensive linkage study was performed in the same pedigree. The highest lod scores were 12.07 for DXS365 (pRX-314) at 0 = 0, 11.72 for DXS418 (P122) at 0 = 0.015, and 10.93 for DXS989 (AFM135xe7) at 0 = 0.045. Analysis of recombination events locates the gene for KFSD between AFM291wf5 and DXS1226 (AFM316yf5). This is region Xp22.13-p22.2, an area covering approximately 1 Mb. These data confirm and greatly refine the regional localisation of KFSD and greatly improve reliability of carrier detection.

Blotting, Southern↗
PubMed1998

Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). We have studied a large British family with KFSD using polymorphic markers from Xp21-p23 and obtained a lod score of 2.056 at theta=0 with markers proximal and distal to the KFSD candidate region Xp22.13-p22.2 identified by Oosterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed in the previously reported Dutch family, but fail to narrow the candidate interval for the KFSD locus.

Darier Disease↗
PubMed1993

Keratosis extremitatum (Greither's disease): clinical features, histology, ultrastructure.

Keratosis palmoplantaris progrediens et transgrediens (Greither's disease) was first described by Greither in 1952. The inheritance pattern is autosomal dominant with variable expression. The clinical manifestation is characterized by diffuse palmoplantar keratoderma associated with hyperhidrosis and progressive extension of keratoderma to the dorsum of the hands and feet. In addition, hyperkeratotic plaques may occur on the elbows and knees. We describe a 44-year-old patient with typical features of Greither's disease. Immunohistologic and ultrastructural investigations are presented.

Achilles Tendon↗
PubMed1992

Keratosis follicularis spinulosa decalvans: report of a case with ultrastructural study and unsuccessful trial of retinoids.

Keratosis follicularis spinulosa decalvans (KFSD) is a genetic disorder characterized by disseminated follicular hyperkeratosis, especially localizated to scalp and face. We report the case of a new patient displaying typical features of KFSD. Ultrastructural study was performed and displayed round keratohyalin granules in follicular keratinocytes. Trial with etretinate, which has not been reported before in this disease, proved to be ineffective.

Biopsy↗
PubMed1989

Hypotrichosis with keratosis pilaris: electrophoretical study of hair fibrous proteins from a patient.

S-carboxymethylated (SCM) fibrous proteins from the scalp hair of a patient with hypotrichosis with keratosis pilaris (HTKP) and from that of a normal individual were analyzed using two-dimensional electrophoresis. One SCM fibrous protein component was different electrophoretically in the HTKP patient. It is suggested that the brittleness of the HTKP hair might result from this alteration of the fibrous protein composition of the hair.

Adult↗
PubMed1995

Ocular involvement in keratosis follicularis associated with retinitis pigmentosa. Clinicopathological case report.

In 1988, Itin et al. published the combination of keratosis follicularis (KF; Darier-White disease), an autosomal-dominantly transmitted genodermatosis, and retinitis pigmentosa (RP) in two brothers. One of these patients died unexpectedly at the age of 54 years. His eyelids and globes were histologically studied post mortem. Involvement of the eyelids has rarely been described clinically and not at all histologically. The skin and the intermarginal zone of the lids exhibited the typical changes of this cutaneous disease involving the follicles of the eyelashes. Focal keratinizations of the limbal conjunctiva, a regional increase in conjunctival goblet cells and a diffuse thickening of the basement membrane of the corneal epithelium were present. They are probably not specific for KF. The retinal findings were those of a typical late stage of RP. The combination of both genetically transmitted disorders could point to a damage in neighbouring gene loci. An abnormality of the metabolism of vitamin A was supposed to play a pathogenetic role in both diseases but remains speculative, as does a genetic linkage.

Conjunctival Diseases↗
PubMed1998

Oblique metatarsal osteotomy for intractable plantar keratosis: 10-year follow-up.

Twenty patients (14 women and 6 men) (23 feet) had a single oblique osteotomy operation of the 2nd, 3rd, or 4th metatarsal without fixation during an 8-year period. The mean age was 46 years (range, 21-64 years). Each patient had a painful intractable plantar keratosis preoperatively. The average follow-up was 10 years (range, 3-14 years). Postoperatively, reoperation was performed in four feet because of painful callosities. For 13 of the 19 feet that did not have reoperation, patients were limited in footwear or required a shoe insert. Overall results were good for 10 feet, fair for 7 feet, and poor for 6 feet. The only complication was a deep infection that occurred in one foot (good result). Nonunion occurred in one foot and delayed union in one. The average decrease in metatarsal length after osteotomy was 6+/-6 mm. The single oblique lesser metatarsal osteotomy may be successful, but one half of the patients continued to have some degree of pain and most patients had limitations in footwear. Overall results were disappointing, and patients who are offered this procedure should be advised of its limitations.

Adult↗
PubMed1994

Familial cosegregation of major affective disorder and Darier's disease (keratosis follicularis)

Darier's disease is a rare autosomal dominantly inherited keratosis. This is an account of one family in which there is co-occurrence of major affective disorder and Darier's disease in five members and absence of both disorders in five members. The pedigree is consistent with genetic linkage between the Darier gene and a major autosomal dominant susceptibility locus for major affective disorder. When the Darier's disease gene has been mapped, its chromosomal location will be an interesting candidate locus for linkage studies of major affective disorder.

Adolescent↗
PubMed1992

Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family.

In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at theta = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.

Chromosome Mapping↗
PubMed2000

[Palmoplantar keratosis].

Palmoplantar keratosis is a frequent hereditary disorder of keratinization in humans that have been classified into diffuse, punctate and focal forms according to the pattern of hyperkeratosis on the pal and soles. Various clinically, histopathologically and genetically distinct phenotypes can be diagnosed. Diffuse palmoplantar keratodermas can be further subdivided by the presence of epidemlysis on histopathology into epidermolytic form and non-epidermolytic form. The late onset non-epidermolytic palmoplantar keratoderma was found associated with oesophageal cancer. The causative locus designated as TOC(Tylosis with oesophageal cancer) mapped to a small region on chromosome 17q25. Frequent allelic loss was found overlapping the region in sporadic oesophageal, ovarian and breast cancers. Positional cloning and candidate gene analysis will allow identification and characterization of the TOC gene which may also be implicated in cancer development.

Chromosome Mapping↗
PubMed1975

Acute, eruptive Darier disease (keratosis follicularis).

Because of the rarity of Darier's disease (keratosis follicularis) occurring as an acute, eruptive disease in a mature adult, a case with sudden onset in a 51-year-old white man is reported. Small, pale-gray, smooth papules on the sides of the arms spread to the sides of the chest, abdomen, and legs within a week. With a biopsy examination, histopathologic findings were acanthosis, hyperkeratosis, lacunae, acantholysis, corps ronds, and grains. Topical therapy with 0.05% fluocinonide (Lidex) cream has given marked improvement.

Acute Disease↗
PubMedDate not supplied

[Atrophic pilar keratosis of the face: case report].

INTRODUCTION: Keratosis pilaris atrophicans faciei (KPAF), previously called ulerythema ophryogenes, belongs to a group of follicular syndromes with inflammation and atrophy. The disease often starts at birth or during the first months of life with autosomal dominant inheritance. CASE REPORT: We report a case of a 24-year-old woman, who noticed the first lesion two years ago. Skin lesion spread symmetrically on the cheeks, forehead and chin. Keratotic follicular papules were surrounded by erythema. After disappearance of follicular papules, atrophy occurred. Histopathological analysis from skin biopsy specimens confirmed the diagnosis of KPAF. DISCUSSION: Follicular syndrome with inflammation and atrophy starts in early childhood, but first lesions can also appear among teenagers or in adults. The course of the disease is progressive with permanent follicular destruction. The histopathologic changes are dynamic and follow the clinical course of the disease. A topical retinoid: tretinoin therapy was introduced. After one month of treatment good effects were visible, including decrease of erythema and follicular hyperkeratosis.

Adult↗
PubMed2002

The use of topical fluorouracil to treat actinic keratosis.

Actinic keratosis (AK) is a lesion induced by UV radiation, affecting predominantly fair-skinned individuals with a history of excessive sun exposure. Because AKs are potentially cancerous, management of AKs is important for dermatologists. The most frequently performed procedure for AKs is excision or destruction of the lesion, followed by biopsy. Topical fluorouracil creams are an efficient, effective treatment, especially for large quantities of widespread lesions. However, fluorouracil can produce an inflammatory facial reaction that is associated with the destruction of AKs. A new formulation, 0.5% fluorouracil cream, is indicated for once-daily use with a duration of treatment of up to 4 weeks. This regimen may be more cost-effective than the higher concentrations of fluorouracil creams (5% and 1%, respectively), which specify twice-daily application. Less frequent applications also may improve patient compliance with topical fluorouracil treatment. The use of 0.5% fluorouracil cream may provide an effective, safe, and economical option to augment the available treatments of AK, which include liquid nitrogen cryotherapy and 5% and 1% fluorouracil creams.

Administration, Topical↗
PubMed2002

A survey of office visits for actinic keratosis as reported by NAMCS, 1990-1999. National Ambulatory Medical Care Survey.

Although actinic keratosis (AK) has been linked to the development of nonmelanoma skin cancer (NMSC), particularly squamous cell carcinoma (SCC), increased awareness regarding diagnosis and treatment may be an important component for reducing morbidity and even mortality from AK and NMSC. We used the National Ambulatory Medical Care Survey (NAMCS) data from 1990 to 1999 to evaluate the diagnosis and treatment of AKs among a wide variety of patients by physicians across the United States. To our knowledge, no widespread surveys of North American populations have been performed recently to determine the epidemiology of AK. AK was diagnosed in more than 47 million visits over the 10-year period surveyed and was found to occur in 14% of patients visiting dermatologists. The diagnosis of AK as determined by NAMCS does not reflect the true prevalence of AK because only patients seeking physician diagnosis were surveyed. This suggests that the actual number of patients in the United States with AK is much higher than 14%. Rates of AK diagnosis in the standard metropolitan statistical areas (SMSAs) and non-standard metropolitan statistical areas (non-SMSAs) of the West states are higher than in other states, but geographic location may not be a direct risk factor for the development of AKs. Procedures were undertaken at 70% of visits where AK was the primary diagnosis. Destruction of lesions was the most frequently performed procedure found in the survey considering only the 1993 and 1994 NAMCS data. Biopsy was the second most frequently performed procedure.

Adolescent↗
PubMed1976

Hypopigmentation with punctate keratosis of the palms and soles.

Generalized discrete hypopigmented macules forming a camouflage pattern appeared on the skin of a man. The condition has been present and has not changed since the age of 6 months. Five other members of his family are reported to have the same abnormality. All affected members also have punctate keratosis of the palms and soles. An autosomal dominant pattern of inheritance is suggested.

Adolescent↗
PubMed1992

[Keratosis of the oral cavity].

Among white lesions of the oral cavity, keratoses can be suspected clinically but should be confirmed by histologic studies. Only examination under the microscope can demonstrate superficial keratinization of the epithelium. Irritative keratosis, dysplastic and malignant keratoses, and specific clinico-pathologic keratoses are reviewed successively. The differential diagnosis of white lesions of the oral cavity is discussed.

Candidiasis, Oral↗
PubMed2003

Keratosis follicularis.

Keratosis follicularis is a genetic disorder that is inherited in an autosomal dominant pattern. Physical examination classically shows keratotic papules that are distributed mostly on the so-called "seborrheic" areas of the body. Nail involvement is not uncommon and is characterized by V-shaped nicking at the distal aspect of the nail bed, longitudinal red and white alternating bands, and subungual hyperkeratosis. Mucosal membrane involvement may occur as white papules on the buccal mucosae, palate, and gingiva with a cobblestone appearance. The mutation has been traced to chromosome 12, where a spectrum of mutations within the ATP2A2 gene encode the calcium ATPase of the sarco/endoplasmic reticulum (SERCA2).

Administration, Oral↗