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Results for “Keratoderma, Palmoplantar, Diffuse”

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At least 19 recordsLinked to original sources
PubMed2005

[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].

OBJECTIVE: To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree. METHODS: Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing. RESULTS: We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals. CONCLUSION: The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.

Base Sequence↗
PubMed1982

Diffuse palmoplantar keratoderma with deafness.

Two brothers with diffuse palmoplantar keratoderma (Thost-Unna type) also were deaf. Of the 38 members of the patients' family, five had a similar disorder and ten had only hearing loss. The mode of inheritance of the dermatosis is regarded as autosomal dominant and is diagnostically distinguished from the other dermatoses associated with the disturbance of keratinization and deafness. To our knowledge, this is the second report of diffuse palmoplantar keratoderma (Thost-Unna type) with deafness, which is considered to be a new variant of the keratodermatoses.

Adult↗
PubMed2004

Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma.

The coexistence of autoimmune diseases and malignancies including lymphoproliferative diseases is often reported in the literature. Here we report an unusual case with two autoimmune diseases--myasthenia gravis (MG) and systemic lupus erythematosus (SLE) associated with unique palmoplantar keratoderma (PK) which preceded the development of multiple myeloma (MM) for twenty and seven years respectively. MG associated with non-malignant thymoma developed in 1981 and was successfully treated with thymectomy and physostigmine. Thirteen years later SLE was diagnosed and until now it is also accompanied by skin lesions corresponding to non-familial, diffuse palmoplantar keratoderma which is resistant to treatment. In 2001 the patient revealed inguinal and abdominal lymphadenopathy first diagnosed as extramedullary plasmacytoma and then as multiple myeloma on the basis of bone marrow infiltration and monoclonal gammopathy. Therapy with VAD regimen achieved complete remission of the MM and significant improvement of the skin changes lasting for six months. We failed to collect sufficient numbers of CD 34+ cells for peripheral blood stem cell transplantation. Now the malignancy is in partial remission after CHOP therapy and the skin lesions have returned to their initial status. To our knowledge, this is the first case to be reported with coexistence of these four diseases.

Adult↗
PubMed1994

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.

Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, frequently complicated by fungal infections, is encountered in northern Sweden with a prevalence of 0.3-0.55%. We have examined two families with this type of palmoplantar keratoderma and localized the causative genetic defect to a 14 cM interval on chromosome 12q11-q13, a region known to contain the keratin type II gene cluster as well as the retinoic acid receptor gamma gene. The palmoplantar keratoderma variant investigated in this study is thus genetically different from epidermolytic palmoplantar keratoderma, which recently has been shown to result from mutations in the gene for the type I keratin 9.

Chromosome Mapping↗
PubMed2006

A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.

Keratin gene mutations affecting nonhelical head and tail domains are not usually associated with prominent skin blistering and keratin filament clumping. Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)). We have studied a family with severe, diffuse, nonepidermolytic PPK and verrucous hyperkeratotic plaques over the joints and in flexures and identified a new KRT1 gene mutation that is predicted to completely alter the K1 tail domain. In addition, a new K1 size polymorphism has been detected, which is especially prevalent among the African-American population. These results further emphasize the functional importance of the nonhelical tail domain in keratin molecules despite the obvious variability in the number of glycine loop motifs and underscore the broad phenotypic spectrum of disorders due to dominant keratin tail mutations.

Adolescent↗
PubMed2002

Non-small-cell lung cancer with nonfamilial diffuse palmoplantar keratoderma.

Palmoplantar keratoderma (PPK) is a congenital or acquired disorder characterized by the abnormal thickening of the skin of the palms and soles. The thickening can present as a diffuse, focal or punctate pattern. It has been reported to be associated with internal malignancies such as lung and esophageal carcinomas. When PPK is associated with malignancy the prognosis is poor. Patients with these conditions should undergo frequent medical examinations, which should include chest radiography and cytologic examination of the sputum. The present patient is a 47-year-old-man with PPK who suffered from metastatic non-small-cell carcinoma of the lung.

Carcinoma, Non-Small-Cell Lung↗
PubMed1993

Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma.

A 61-year-old black woman had epidermoid carcinoma of the lung and the recent onset of diffuse hyperkeratosis of the palms and soles. These findings suggested an association between internal malignancy and palmoplantar hyperkeratosis. This report discusses the palmoplantar keratodermas, including those associated with malignancy.

Carcinoma, Squamous Cell↗
PubMed1998

Palmoplantar keratoderma associated with congenital heart disease.

We report the case of a 14-month-old boy suffering from total anomalous pulmonary venous connection (TAPVC) associated with congenital diffuse palmoplantar keratoderma (PPK). An association between TAPVC and PPK has not been described previously, but PPK has been reported in association with a variety of cardiac abnormalities. Given the low frequency of both conditions, a genetic link seems likely. It is therefore advisable for dermatologists to check for heart abnormalities in children with congenital PPK.

Heart Defects, Congenital↗
PubMed1990

Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis.

A new kind of diffuse palmoplantar keratoderma with autosomal recessive inheritance and without associated symptoms was described in Norrbotten, Sweden by Gamborg Nielsen in 1985. Clinically, it ranges between the less severe dominant Unna-Thost type and the more severe recessive Meleda type, as it is milder than the latter. Skin biopsies of five patients from three different families with this new palmoplantar keratoderma, as well as five obligatory heterozygotes from one family, were investigated ultrastructurally in order to characterize this new entity and to differentiate it from the Meleda type. Several features are common to both autosomal recessive palmoplantar keratoses. They show a broadened granular layer, a transit region consisting of cells with a marginal envelope, and considerable hyperkeratosis. Morphologically, this transformation delay is less pronounced in the Gamborg Nielsen type than in the classical Meleda type. As is typical for ridged skin, both types of palmoplantar keratoses possess composite keratohyaline granules. In contrast to the normal appearance of keratohyaline granules in the Meleda type, the Gamborg Nielsen type also shows qualitative deviations of keratohyaline granules with different degrees of spongiosity and electron density and sometimes with a granular border. It seems that abnormal keratohyaline proteins are synthesized that behave differently. The sudden transformation of a granular into a horny cell is physiologically regulated by different enzymes. A delay in this process may be caused by a mutation that reduces or alters the enzymes concerned. We assume the palmoplantar keratoderma of the Gamborg Nielsen type to be a variant of the heterogeneous group of the Meleda type of palmoplantar keratoderma with autosomal recessive inheritance.

Female↗
PubMed2005

Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.

BACKGROUND: Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata. OBSERVATIONS: We describe a family affected with a diffuse nonstriated form of palmoplantar keratoderma. Histopathologic examination of skin biopsy specimens disclosed cell-cell disadhesion in the suprabasal layers of the epidermis, as previously described in keratoderma palmoplantaris striata. We therefore genotyped all family members using microsatellite markers encompassing 3 keratoderma palmoplantaris striata-associated loci. Haplotype analysis suggested linkage of the disease to 18q12.1, which harbors the DSG1 gene, encoding desmoglein 1. Mutation analysis eventually led to the identification of a causative recurrent nonsense mutation in this gene. CONCLUSIONS: Mutations in DSG1 are not exclusively associated with striated palmoplantar keratoderma. The present study illustrates the efficacy of an integrative diagnostic approach to palmoplantar keratodermas involving clinical assessment, pathologic examination, microsatellite marker screening, and mutational analysis.

Arginine↗
PubMed1999

Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins.

Diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) belongs to the heterogeneous group of skin diseases characterized by thickening of the stratum corneum of the palms and soles (1). This autosomal dominant PPK is characterized by a diffuse pattern of palmar and plantar hyperkeratosis giving the affected areas a thickened yellowish appearance with a marked erythematous edge. Linkage of diffuse NEPPK to chromosome 12q11-q13 has been demonstrated in two independent reports (2, 3). In this study, we describe detailed haplotyping with microsatellite markers mapping to this chromosomal region in three diffuse NEPPK pedigrees from the south of England. Fine mapping of a previously identified recombination event and the identification of a common disease haplotype segregating in the three pedigrees places the diffuse NEPPK locus proximal to the type II keratin gene cluster.

Chromosome Mapping↗
PubMed1998

Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease of unknown etiology that causes arrhythmias, heart failure, and sudden death. Diagnosis can be difficult, and this hampers investigation of its molecular basis. Forms of ARVC in which gene penetrance and disease expression are greater should facilitate genetic study. We undertook a clinical and genetic investigation of Naxos disease, originally described by Protonotarios in 1986. This disease constitutes the triad of ARVC, diffuse nonepidermolytic palmoplantar keratoderma, and woolly hair. METHODS AND RESULTS: We evaluated the population of Naxos, Greece, to identify probands, which was followed by family screening. Twenty-one affected persons from 9 families of 150 persons were identified. Linkage analysis was performed with microsatellite markers. The disease locus mapped to 17q21. A peak 2-point LOD score of 3.62 at theta=0.0 was found with a marker within intron 4 of the keratin 9 gene, a member of the type I (acidic) keratin family. A preserved homozygous disease haplotype was identified. Haplotype analysis delimited the disease interval. CONCLUSIONS: Hair and skin abnormalities were found to be reliable markers of subsequent heart disease. This suggests the presence of a single mutant gene with novel cardiac, skin, and hair function or two or more tightly linked disease genes. Recessive inheritance of Naxos disease and a founder effect were demonstrated. Identification of a fully informative genetic marker linked to the disease and uncommon in the background population may be of use as a test to identify disease gene carriers.

Arrhythmogenic Right Ventricular Dysplasia↗
PubMed1995

Diffuse plane xanthomatosis and acquired palmoplantar keratoderma in association with myeloma.

We report a patient with diffuse plane xanthomatosis, acquired palmoplantar keratoderma, and myeloma. Although diffuse plane xanthomatosis is a recognized manifestation of paraproteinaemia, keratoderma is not. However, successful treatment of the myeloma in our patient coincided with a dramatic improvement in the keratoderma, suggesting a genuine association between the two disorders.

Aged↗
PubMed1997

Haber's syndrome.

Haber's syndrome is a rare genodermatosis characterised by an early onset rosacea-like eruption associated with multiple truncal keratotic lesions. The present study reports the clinical presentation, histology and response to therapy of two cases of Haber's syndrome. The cases presented with the typical features of Haber's syndrome. Case 1 also had diffuse palmoplantar keratoderma and prominent nail cuticles, and case 2 had diffuse palmar keratoderma. These features have not been previously reported in Haber's syndrome. In the present study Haber's syndrome is reviewed, and its relationship to Dowling-Degos disease and acropigmentation of Kitamura are discussed.

Adolescent↗
PubMed2002

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

The constitutive desmosomal plaque protein desmoplakin plays a vital part in keratinocyte adhesion in linking the transmembranous desmosomal cadherins to the cytoplasmic keratin filament network. Recently, mutations in desmoplakin have been shown to underlie some cases of the autosomal dominant disorder, striate palmoplantar keratoderma, as well as an autosomal recessive condition characterized by dilated cardiomyopathy, woolly hair, and keratoderma. Here, we describe two unrelated individuals with a new autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, varying degrees of alopecia, but no apparent cardiac anomalies. Mutation screening of desmoplakin demonstrated compound heterozygosity for a non-sense/mis-sense combination of mutations in both cases, C809X/N287K and Q664X/R2366C, respectively. Heterozygous carriers of any of these mutations displayed no phenotypic abnormalities. Immunohistochemistry of skin biopsies from both affected individuals revealed that desmoplakin was not just located at the cell periphery but there was also cytoplasmic staining. In addition, electron microscopy demonstrated acantholysis throughout all layers of the skin, focal detachment of desmosomes into the intercellular spaces, and perinuclear condensation of the suprabasal keratin intermediate filament network. Clinicopathologic and mutational analyses therefore demonstrate that desmoplakin haploinsufficiency can be tolerated in some cases, but that in combination with a mis-sense mutation on the other allele, the consequences are a severe genodermatosis with specific clinical manifestations.

Amino Acid Sequence↗
PubMed1994

Adoption of a demographic database for family studies of hereditary palmoplantar keratoderma type Gamborg Nielsen.

In the northernmost county of Sweden (Norrbotten) two different clinical and genetic types of hereditary palmoplantar keratoderma have been reported: a common autosomal dominant form, corresponding to the descriptions performed by Unna and Thost, and an obviously autosomal recessive form, which clinically differed from other diffuse palmoplantar keratodermas, named the Gamborg Nielsen type. For further family studies and to support its probably recessive inheritance a demographic mapping of four families with this rare keratinization disorder was performed. It could be shown that these families belonged to the same family at different levels of generations; however, a common ancestor, who connected these families was not found. Marital distance of heterozygotes and birth places of probands were limited to an area, which is generally known to harbour different inherited disorders. According to a map of the origin of family members, it was shown that the major part originated from the same area and that the integration of family members had occurred in the same places. It was concluded that adoption of a demographic database for family studies in genetic research may contribute valuable information about family relations.

Adolescent↗