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PubMed1997

High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.

The disease loci for X-linked Retinoschisis (RS), Keratosis follicularis spinulosa decalvans (KFSD), and Coffin-Lowry syndrome (CLS) have been localized to the same, small region in Xp22 on the human X Chromosome (Chr). To generate a high-resolution map of the available contig in this area, we have used the YAC fragmentation vectors pBP108/ADE2 and pBP109/ADE2 and generated fragmented YACs from a 2.5-Mb YAC (y939H7) spanning the mentioned disease gene candidate regions. Forty-seven fragmented YACs were generated and analyzed, ranging in size from 170 kb to over 2400 kb. The resulting YAC fragmentation panel was used to construct a detailed restriction map of the region and has been used to bin clones and markers. As a deletion panel, it will present a valuable resource for further mapping.

Abnormalities, Multiple↗

PubMedDate not supplied

[Linear Darier disease in two siblings. An example of loss of heterozygosity].

BACKGROUND: Darier's disease or keratosis follicularis is an autosomal dominant acantholytic disorder that frequently arises as a result of spontaneous mutation. It is either a generalized or localized condition due to a mutation in the SERCA2 12q23-q24,1 resulting in a faulty organization of the tonofilaments. We present two siblings affected with the linear form of this disorder and discuss these cases as an example of the genetic mechanism of loss of heterozygosity. CASE REPORTS: A 7 year-old girl was referred for evaluation of linear lesions present since the first year of age. Examination disclosed red, 1 to 2 mm papules that coalesced to form linear plaques on the left side of the vulvar and perianal areas, and on the left hand and foot. Her older brother had similar lesions in a linear arrangement on the left side of the face neck and homolateral foot. No lesions were found in their parents. Biopsies of both affected children revealed an intraepidermal suprabasal cleft. Dyskeratotic cells were present in the spinous layer, and corps ronds and grains near the granular layer. DISCUSSION: The linear form of Darier's disease could result from genetic mosaicism for this autosomal dominant disorder. As these children have a more pronounced involvement than the usual Darier's disease lesions, disposed in a linear arrangement, they probably represent a type 2 segmental manifestation of the disorder. Likewise, the presence of the same linear disorder in two siblings could be explained by loss of heterozygosity for the Darier's disease gene.

Adolescent↗

PubMed1996

Darier's Disease and psychosis.

There are some reports in the literature about the comorbidity of Darier's Disease (keratosis follicularis) and psychiatric illness (e.g. mental retardation or affective disorders). Here we present evidence that schizophreniform psychosis may also be associated with Darier's Disease.

Adult↗

PubMed2002

Vulval squamous cell carcinoma arising in localized Darier's disease.

Darier's disease (keratosis follicularis) is a rare vulval lesion and it has been associated with squamous and non-squamous tumors from different origin. A vulval squamous cell carcinoma (SCC) arising in a localized Darier's disease is presented. To our knowledge, this is the first case to report the association of a vulval SCC and a localized Darier's disease. The possibility of delaying or overlooking the diagnosis of a vulval carcinoma is also illustrated. It is suggested to resect the whole lesion of Darier's disease localized to the vulva or take multiple biopsies.

Aged↗

PubMed2003

Treatment of Darier's disease with photodynamic therapy.

BACKGROUND: Photodynamic therapy (PDT) using topical 5-aminolaevulinic acid (5-ALA) as a photosensitizer has been reported in the treatment of both neoplastic and benign cutaneous disorders. OBJECTIVES: To evaluate the efficacy of photodynamic therapy in selected patients with Darier's disease (keratosis follicularis). METHODS: Six patients with Darier's disease were assessed before and after treatment with PDT using 5-ALA and mean fluence rates of 110-150 mW cm-2. RESULTS: Of the six patients, one was unable to tolerate the treatment. Of the remaining five, all experienced an initial inflammatory response that lasted two to three weeks. In four of the five patients, this was followed by sustained clearance or improvement over a followup period of six months to three years. Three of these four patients were on systemic retinoids and the fourth had discontinued acitretin prior to PDT. In the fifth patient partial improvement was followed by recurrence after etretinate therapy was discontinued. Biopsy specimens taken immediately after the procedure in two patients demonstrated a mild inflammatory cell infiltrate in the dermis. A biopsy obtained eighteen months after PDT from a successfully treated area showed no signs of Darier's disease and a subtle increase of collagen in the upper dermis. CONCLUSIONS: Photodynamic therapy can be viewed as a potential adjunctive modality for Darier's disease but should not be considered as a substitute for retinoids in patients who require systemic treatment.

Adult↗

PubMed2001

A unique variant of Darier's disease.

A 45-year-old black woman presented with a chief complaint of an increasing number of "light spots" on her face, upper trunk, and legs. She had a 4-year history of a pruritic eruption on the dorsum of her hands. The eruption was particularly pruritic in the summer months. Other family members, including her sister and her daughters, reportedly had a similar dermatologic problem. The patient had been previously evaluated and biopsied by another dermatologist. The earlier biopsy was nondiagnostic, however, and she presented for further evaluation of this problem. On physical examination, the patient had hypopigmented macules along her jawline (Fig. 1), lateral neck, and upper chest. She had similar hypopigmented macules on her thighs. She had hyperkeratosis of the palmoplantar surface of her hands and feet. The dorsum of her hands had numerous coalescing, shiny, flat-topped, hypopigmented papules (Fig. 2), and several of her fingernails had distal, V-shaped notching. A punch biopsy from a papule on the dorsum of her hand was obtained. The epidermis had corps ronds present with focal areas of acantholysis above the basal layer (Fig. 3). The dermis had sparse, superficial, perivascular infiltrates composed of lymphocytes and histiocytes. These changes were consistent with our clinical diagnosis of Darier's disease (keratosis follicularis).

Darier Disease↗

PubMed2002

Keratosis pilaris atrophicans in mother and daughter.

We report two cases of keratosis follicularis spinulosa decalvans in a Caucasian family involving a 28-year-old woman and her mother. This is an unusual family in that no male relatives are similarly affected. Secondly, both patients have no significant eye changes but quite extensive scarring alopecia. To the best of our knowledge this is the second reported family in the UK.

Adult↗

PubMed1983

Warty dyskeratoma of the vulva.

Suprabasal acantholysis of the epidermis is a histopathologic common denominator of diverse conditions such as pemphigus vulgaris, benign familial pemphigus (Hailey-Hailey), transient acantholytic dermatosis (Grover's disease), some actinic keratoses and cutaneous squamous carcinomas, keratosis follicularis (Darier's disease [DD]), and warty dyskeratoma (WD). Of these, WD rarely occurs in the vulva and is indistinguishable histologically from DD. However, DD is an inherited dermatosis (autosomal dominant) consisting of multiple keratotic papules on the face, trunk, and extremities, while WD occurs as an isolated, noninherited, single keratotic nodule mainly confined to the head and neck. We had the opportunity to study three patients who presented with isolated WD in the vulva. These patients had no other skin lesions and had no family history of DD or multiple dermatologic papulonodules. Histologically, all three vulvar lesions were indistinguishable from classic head and neck WD. WD must be clinically and histologically differentiated from vulvar dysplasia, bowenoid papulosis, squamous carcinoma, condyloma, and other viral-induced squamous lesions. WD should be added to the list of recognizable vulvar squamous lesions.

Acantholysis↗

PubMed1981

Darier's disease: a partially immunodeficient state.

Darier's disease (Keratosis follicularis) a dominantly inherited keratinizing disorder of the skin, is associated with the development of severe, progressive viral and bacterial skin infections. We investigated the possibility that an inadequacy of the immune system might be responsible for this tendency. Seven of our 8 patients with Darier's disease showed complete anergy to common skin test antigens and their peripheral blood lymphocytes failed to produce the lymphokine, leukocyte inhibitory factor (LIF) in vitro when stimulated with the same antigens. One Darier's patient and 6 controls showed positivity to at least one skin test antigen and produced lymphokine in vitro to the appropriate antigen. All patients had normal leukocyte and differential counts and normal numbers of circulating T and B cells. All 8 patients with Darier's disease demonstrated no proliferative response to optimal doses of the T cell mitogen Con A while showing normal responses to the T cell stimulant PHA and the T cell dependent B cell stimulant PWM. This previously unreported finding suggests a subtle abnormality of T cells in Darier's and might be a marker for these patients. Serum from 2 patients with Darier's disease did not suppress the in vitro immunologic activity of lymphocytes from normals. Finally, 13-Cis-retinoic acid in dosages adequate to clear their skin disease did not alter the in vivo or in vitro immunologic functions in 3 Darier's patients, suggesting that the immune dysfunction is not a secondary phenomenon.

Adult↗

PubMed2002

Induction of Darier's disease by repeated irradiation by ultraviolet B; protection by sunscreen and topical ascorbic acid.

Darier's disease, keratosis follicularis, is frequently aggravated by sun exposure. Although there have been reports of Darier's disease reproduced by repeated exposure to ultraviolet B, little is known about its photo-protection. We artificially induced Darier's disease in a 47-year-old Korean man, and tested the protection afforded by sunscreen and topical ascorbic acid. Complete lesions of Darier's disease arose with repeated exposure of ultraviolet B (2,600 mJ/cm2 for 10 days), and sunscreen and topical ascorbic acid protected against its appearance. This result strongly suggests that sunscreen and ascorbic acid would be very helpful in preventing the aggravation of Darier's disease caused by sun exposure.

Administration, Topical↗

PubMed1977

Darier's disease: a kindred with a large number of cases.

Over 70 cases of keratosis follicularis (Darier's disease) were noted in a study of a single kindred consisting of more than 200 individuals. Data were obtained through questionnaires, interviews and physical examinations. Results strongly support an autosomal dominant mode of inheritance since the ratio of affected to unaffected members was I:I and there were nearly equal numbers of males and females with this condition. Large sibships were common in this kindred, which extended over seven generations, and most of the affected individuals were located in the southwestern New York-northwestern Pennsylvania region of the United States.

Adolescent↗

PubMed2004

Systematic genome-wide approach to positional candidate cloning for identification of novel human disease genes.

BACKGROUND: Recent large-scale genome projects afford a unique opportunity to identify many novel disease genes and thereby better understand the genetic basis of human disease. Functional Annotation of Mouse (FANTOM) 2, the largest mouse transcriptome project yet, provides a wealth of data on novel genes, splice variants and non-coding RNA, and provides a unique opportunity to identify novel human disease genes. AIMS: To demonstrate the power of combining the FANTOM 2 cDNA dataset with a positional candidate approach and bioinformatics analysis to identify genes underlying human genetic disease. RESULTS: By mapping all FANTOM 2 cDNA to the human genome, we were able to identify mouse clones that co-localised on the human genome with mapped but uncloned human disease loci. By this method we identified mouse and corresponding human genes mapping within the loci of 100 different human genetic diseases (mapped interval of <5 cM). Of particular interest was the elucidation through FANTOM 2 novel mouse gene data of candidate human genes for the following: (i) developmental -disorders: neural tube defect, Meckel syndrome, Wolf--Hirschhorn syndrome and keratosis follicularis spinulosa decalvans cum ophiasi; (ii) neurological disorders: benign familial infantile convulsions 3, early-onset cerebellar ataxia with retained tendon reflexes, infantile-onset spinocerebellar ataxia and vacuolar neuro-myopathy and (iii) cancer-related syndromes: tylosis with oesophageal cancer and low-grade B-cell chronic lymphatic leukaemia. CONCLUSIONS: The FANTOM 2 data will dramatically accelerate efforts to identify genes underlying human disease. It will also facilitate the creation of transgenic mouse models to help elucidate the function of potential human disease genes.

Animals↗

PubMed2006

Skin physiology and textiles - consideration of basic interactions.

The skin exerts a number of essential protective functions ensuring homeostasis of the whole body. In the present review barrier function of the skin, thermoregulation, antimicrobial defence and the skin-associated immune system are discussed. Barrier function is provided by the dynamic stratum corneum structure composed of lipids and corneocytes. The stratum corneum is a conditio sine qua non for terrestrial life. Impairment of barrier function can be due to injury and inflammatory skin diseases. Textiles, in particular clothing, interact with skin functions in a dynamic pattern. Mechanical properties like roughness of fabric surface are responsible for non-specific skin reactions like wool intolerance or keratosis follicularis. Thermoregulation, which is mediated by local blood flow and evaporation of sweat, is an important subject for textile-skin interactions. There are age-, gender- and activity-related differences in thermoregulation of skin that should be considered for the development of specifically designed fabrics. The skin is an important immune organ with non-specific and specific activities. Antimicrobial textiles may interfere with non-specific defence mechanisms like antimicrobial peptides of skin or the resident microflora. The use of antibacterial compounds like silver, copper or triclosan is a matter of debate despite their use for a very long period. Macromolecules with antimicrobial activity like chitosan that can be incorporated into textiles or inert material like carbon fibres or activated charcoal seem to be promising agents. Interaction of textiles with the specific immune system of skin is a rare event but may lead to allergic contact dermatitis. Electronic textiles and other smart textiles offer new areas of usage in health care and risk management but bear their own risks for allergies.

Anti-Infective Agents↗

PubMed1996

An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.

To facilitate the positional cloning of the genes involved in retinoschisis (RS), keratosis follicularis spinulosa decalvans (KFSD), Coffin-Lowry syndrome (CLS), X-linked hypophosphatemic rickets (XLH, locus name HYP) and X-linked dominant cone-rod degeneration (locus name RP15), we have extended the molecular map of the Xp22 region. Screening of several YAC libraries allowed us to identify 156 YACs, 52 of which localize between markers DXS414 (P90) and DXS451 (kQST80H1). Analysis of their marker content facilitated the construction of a YAC contig from the region spanning (in this order): DXS414 - DXS987 - DXS207 - DXS1053 - DXS197 - DXS 43 - DXS1195 - DXS418 - DXS999 - PDHA1 - DXS7161 - DXS443 - DXS 7592 - DXS1229 - DXS365 - DXS7101 - DXS7593 - DXS1052 - DXS274 - DXS989 - DXS451. The region between DXS414 and DXS451 covers about 4.5-5 Mb. Two additional markers (DXS7593 and DXS7592) were placed in the region, thereby increasing the genetic resolution. Using the deduced marker order, the analysis of key recombinants in families segregating RS allowed us to refine the critical region for RS to 0.6 Mb, between DXS418 and DXS7161.

Abnormalities, Multiple↗

PubMed2000

Genetic basis of Darier-White disease: bad pumps cause bumps.

BACKGROUND: Darier-White disease, or keratosis follicularis, is a dominantly inherited disorder characterized by brown hyperkeratotic papules and plaques in a seborrheic distribution. The genetic basis of this disorder has recently been elucidated. OBJECTIVE: In this article, we review the history of the search for the genetic basis of Darier-White disease. METHODS: Previous studies are reviewed in which linkage studies identified the chromosomal location of the disease gene. The methods of physical mapping of the critical gene region and the screening of candidate genes are discussed. Results of recently published data on genotype-phenotype correlation in the disorder are presented. RESULTS: Linkage analysis in families, together with development of a physical map of the critical region was important in identifying the causative gene. Screening of candidate genes led to the discovery that mutations in ATP2A2, a gene that encodes the sarco/endoplasmic reticulum Ca(2+)-ATPase isoform 2, cause Darier-White disease. Abnormalities in the function of this calcium pump are hypothesized to interfere with cell growth and differentiation calcium-dependent processes. CONCLUSION: Genetic and molecular approaches have identified the gene for Darier-White disease and lead to more questions, including "Will this information help in the search for the Hailey-Hailey disease gene?"

Chromosome Mapping↗

PubMed2003

The molecular genetics of the corneal dystrophies--current status.

The pertinent literature on inherited corneal diseases is reviewed in terms of the chromosomal localization and identification of the responsible genes. Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Bietti marginal crystalline dystrophy), chromosome 5 (lattice dystrophy types 1 and IIIA, granular corneal dystrophy types 1, 2 and 3, Thiel-Behnke corneal dystrophy), chromosome 9 (lattice dystrophy type II), chromosome 10 (Thiel-Behnke corneal dystrophy), chromosome 12 (Meesmann dystrophy), chromosome 16 (macular corneal dystrophy, fish eye disease, LCAT disease, tyrosinemia type II), chromosome 17 (Meesmann dystrophy, Stocker-Holt dystrophy), chromosome 20 (congenital hereditary endothelial corneal dystrophy types I and II, posterior polymorphous corneal dystrophy), chromosome 21 (autosomal dominant keratoconus) and the X chromosome (cornea verticillata, cornea farinata, deep filiform corneal dystrophy, keratosis follicularis spinulosa decalvans, Lisch corneal dystrophy). Mutations in nine genes (ARSC1, CHST6, COL8A2, GLA, GSN, KRT3, KRT12, M1S1and TGFBI [BIGH3]) account for some of the corneal diseases and three of them are associated with amyloid deposition in the cornea (GSN, M1S1, TGFBI) including most of the lattice corneal dystrophies (LCDs) [LCD types I, IA, II, IIIA, IIIB, IV, V, VI and VII] recognized by their lattice pattern of linear opacities. Genetic studies on inherited diseases affecting the cornea have provided insight into some of these disorders at a basic molecular level and it has become recognized that distinct clinicopathologic phenotypes can result from specific mutations in a particular gene, as well as some different mutations in the same gene. A molecular genetic understanding of inherited corneal diseases is leading to a better appreciation of the pathogenesis of these conditions and this knowledge has made it imperative to revise the classification of inherited corneal diseases.

Corneal Dystrophies, Hereditary↗

PubMed1976

Hormonal dependency in Darier disease.

Variation in the severity of keratosis follicularis relative to states of homonal change was noted in eight women with the disease. Observations included frequent onset near puberty, puberty, exacerbation during menses, and improvement while patients are pregnant or on oral contraceptive agents. It is proposed that states of relative estrogen excess are associated with quiescence of this skin disorder. In support of this hypothesis, three postpubertal women with Darier desease were observed to undergo significant improvement with the use of estrogen-dominant birth control pills.

Adolescent↗

PubMedDate not supplied

Darier-White disease in a Saudi patient associated with systemic involvement.

A 22 year-old Saudi patient is reported who had Darier-White disease (Keratosis follicularis), presenting with the classical cutaneous manifestation of this disease in addition to systemic symptoms, including chronic renal failure, mental retardation, epilepsy, cataract and corneal opacities.

Adult↗