1/10. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.Mutations in keratin 1 were initially described in the classical form of bullous congenital ichthyosiform erythroderma (also known as epidermolytic hyperkeratosis). More recently the range of phenotypes associated with mutations in this gene has been extended to include annular ichthyosiform erythroderma and mild epidermolytic palmoplantar keratoderma. Here we present two novel mutations in the keratin 1 gene (KRT1): a 5' donor splice site mutation in exon 1 (591 2T > A) that predicts a 22 amino acid in-frame deletion in the keratin 1 1A domain; and an in-frame deletion in exon 7 (1376del24) that predicts a foreshortened 2B coiled-coil domain of keratin 1. In each case these mutations are associated with palmoplantar keratoderma and mild ichthyosis, largely limited to the flexural areas. These mutations appear to have a less damaging effect than previously reported mis-sense mutations sited in the helix boundary motifs. This report extends the range of phenotypes associated with mutations in KRT1.- - - - - - - - - - ranking = 1keywords = erythroderma (Clic here for more details about this article) |
2/10. Sezary's syndrome: a cytogenetic, cytophotometric and autoradiographic study.Cytophotometric, cytogenetic, and autoradiographic studies were performed in cells of three patients suffering from clinically diagnosed Sezary's syndrome with erythroderma and the presence of abnormal lymphoid cells in the peripheral blood, skin, bone marrow and lymph-nodes. Feulgen dna cytophotometry of cells in the peripheral blood and skin lesions showed marked aneuploidy and tetraploidy. Multiple translocations were identified with a G-banding technique. The chromosomal abnormalities varied widely between the patients, but C and D group chromosomes were more frequently involved than others. All breakpoints of the translocations were localised in the centromeric region. autoradiography of blood and skin samples revealed many labelled cells in the skin and a lower number in the blood, indicating cell proliferation in the skin. It is concluded that the pathological cells occurring in the sezary syndrome are abnormal lymphoid cells with a tendency to proliferate in the dermis. The variability observed between and in the patients is in all probability due to a difference in the degree of dedifferentiation.- - - - - - - - - - ranking = 0.5keywords = erythroderma (Clic here for more details about this article) |
3/10. sarcoidosis in a child, presenting as an erythroderma with keratotic spines and palmar pits.A case of sarcoidosis with generalized erythroderma, exfoliation and micropapule formation in a 6-year-old boy is presented. Follicular spiny keratoses, resembling those seen in pityriasis rubra pilaris, and palmo-plantar pitting were among the other extraordinary features in this case. The epidermis overlying the widespread sarcoid granulomata showed parakeratosis, lymphocytic infiltration and degeneration of the basal layer.- - - - - - - - - - ranking = 2.5keywords = erythroderma (Clic here for more details about this article) |
4/10. Inflammatory myopathy in a patient with cutaneous findings of pityriasis rubra pilaris: a case of Wong's dermatomyositis.We report the case of a 46-year-old woman presenting cutaneous lesions similar to those of pityriasis rubra pilaris, characterized by diffuse scaling erythroderma and palmoplantar keratoderma; skin biopsy showed follicular hyperkeratosis with a perivascular lymphocytic infiltrate. One year later she developed an inflammatory myopathy; on the basis of clinical features, a diagnosis of dermatomyositis was made. Treatment with prednisone and hydroxychloroquine led to complete control of the cutaneous and muscular involvement, which was maintained during prednisone tapering.- - - - - - - - - - ranking = 0.5keywords = erythroderma (Clic here for more details about this article) |
5/10. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis characterized by epidermolytic hyperkeratosis strictly confined to the palms and soles, and usually associated with mutations in the keratin K9 gene (KRT9). Mutations in the keratin K1 gene (KRT1) have been shown to underlie a variety of phenotypes typically involving generalized epidermolytic hyperkeratosis, but in some cases the phenotype can be more regionally restricted. OBJECTIVES: To identify the genetic defect in two unrelated families initially presenting with EPPK but where careful examination revealed hyperkeratosis extending on to the proximal wrist flexure. methods Linkage analysis and dna sequencing. RESULTS: We found that this phenotype is caused by a heterozygous missense mutation in the K1 gene, designated I479T. This mutation lies in the highly conserved helix termination motif of K1, previously shown to be important for keratin assembly and filament formation. In general, mutations in this region of keratins are associated with more severe disease phenotypes. However, K1 mutations in this region and the I479T mutation in particular have previously been associated with both severe and mild bullous congenital ichthyosiform erythroderma phenotypes. When further clinical enquiries were made, several affected individuals in the families studied here were found to have had transient flexural peeling and hyperkeratosis in the neonatal period. CONCLUSIONS: K1 mutations may underlie a phenotype closely resembling EPPK. A history of transient flexural peeling and hyperkeratosis in childhood and palmoplantar keratoderma which extends beyond the boundary of the palmoplantar margins may indicate a K1 mutation rather than a K9 defect. As K1 mutations are also associated with severe widespread phenotypes, with important implications for prognostic and genetic counselling, whole body examination is recommended for patients presenting with EPPK.- - - - - - - - - - ranking = 0.5keywords = erythroderma (Clic here for more details about this article) |
6/10. Epidermolytic variant of hereditary palmoplantar keratoderma.The seventh family with autosomal dominant epidermolytic palmoplantar keratoderma is reported. The lesions are clinically indistinguishable from Unna-Thost disease but resemble epidermolytic hyperkeratosis (bullous ichthyosiform erythroderma) histopathologically. A skin biopsy is essential for making the correct diagnosis. One of our patients was treated with isotretinoin for 13 weeks without significant improvement.- - - - - - - - - - ranking = 0.5keywords = erythroderma (Clic here for more details about this article) |
7/10. Erythroderma with spongiotic dermatitis. association with common variable hypogammaglobulinemia.Two middle-aged men presented with generalized erythroderma, diffuse alopecia, and hyperkeratosis of the palms and soles. Histopathologic study demonstrated spongiosis (epidermal intercellular edema) with a perivascular lymphohistiocytic infiltrate. Complete immunologic evaluation demonstrated that both patients had panhypogammaglobulinemia and markedly depressed in vitro pokeweed mitogen-induced immunoglobulin secretion. One of the patients also showed poor lymphocyte responses in vitro to T cell mitogens and antigens and had a decreased ratio of helper to suppressor cells. In both patients, the cutaneous lesions improved with systemic corticosteroids, but no significant alteration in the immunologic abnormalities was observed. This report illustrates that chronic erythroderma may be the presenting clinical manifestation of common variable hypogammaglobulinemia.- - - - - - - - - - ranking = 1keywords = erythroderma (Clic here for more details about this article) |
8/10. sezary syndrome with arthropathy. Report of a case.A 65-year-old black female with sezary syndrome had generalized intractable pruritus, erythroderma, alopecia, onychogryphosis, lumphadenopathy and hepatomegaly. Abnormal lymphocytes with large, convoluted and grooved nuclei (Sezary cells) were identified in the skin and peripheral blood. A striking feature of her disease was severe, deforming arthropathy of the hands and knees, a clinical finding which has been described previously in only one patient with sezary syndrome. At necropsy no associated lymphoma was found.- - - - - - - - - - ranking = 0.5keywords = erythroderma (Clic here for more details about this article) |
9/10. Progressive generalized perforating folliculitis.A case is presented of a 52-year-old female exhibiting a severe progressive generalized perforating folliculitis accompanied by widespread erythroderma, follicular hyperkeratosis, keratoderma of palms and soles, alopecia of scalp and eyebrows, and nail changes. The disease seemed completely resistant to steroids, adrenocorticotropin, PUVA, cytostatic drugs, and aromatic retinoids. This type of skin reaction does not seem to have been described in the dermatologic literature.- - - - - - - - - - ranking = 0.5keywords = erythroderma (Clic here for more details about this article) |
10/10. Bullous pemphigoid presenting as exfoliative erythroderma.Several unusual clinical presentations of bullous pemphigoid have been described such as localized, vesicular, vegetating, nodular, and sine bulla pemphigoid. patients with erythroderma who fulfill diagnostic criteria for bullous pemphigoid and in whom bullae develop have been reported. We describe a patient with exfoliative erythroderma without any blistering in whom a diagnosis of bullous pemphigoid was based on examination of a biopsy specimen. Circulating antibodies to the basement membrane zone, with an epidermal pattern on salt split skin, and the presence of eosinophilic spongiosis in the skin biopsy specimen supported the diagnosis.- - - - - - - - - - ranking = 3keywords = erythroderma (Clic here for more details about this article) |
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