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At least 163 records · Page 9Linked to original sources
PubMed1988

Subacute cutaneous lupus erythematosus presenting as erythroderma.

We report the first case of subacute cutaneous lupus erythematosus presenting with exfoliative erythroderma. Although our patient had uniquely extensive skin disease, she had the clinical, histologic, serologic, and immunogenetic features of subacute cutaneous lupus erythematosus. Complete remission was obtained with a short course of systemic corticosteroids and long-term hydroxychloroquine therapy. We briefly discuss the usual features of subacute cutaneous lupus erythematosus.

Acute Disease↗
PubMed1977

Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia.

Early childhood deafness, congenital non-bullous ichthyosiform erythroderma, corneal involvement, photophobia, chronic blepharoconjunctivitis, hypotrichosis, anhidrosis, hyperkeratosis of the nails and dental dysplasia were the symptoms observed in the 19-year-old girl described in this paper. The literature comprises reports on 8 patients with this syndrome, which McKusick (1975) listed as no. 24215.

Adolescent↗
PubMedDate not supplied

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.

Autosomal recessive congenital ichthyosis (ARCI) is a clinically heterogeneous disorder of keratinisation. It was recently shown that mutations in the transglutaminase 1 (TGM1) gene may be associated with the clinical subtypes lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (CIE). Thirty-six Norwegian families with LI and seven with non-bullous CIE were studied with microsatellite markers linked to the TGMI gene. One common haplotype for two markers was found on 74% of disease associated chromosomes. Three individuals homozygous for the common haplotype, two affected by LI and one affected by CIE, were analysed for mutations in the TGM1 gene. All three patients were found homozygous for a single A to G transition located in the canonical splice acceptor site of intron 5. Probands from the remaining 40 families with LI and CIE were screened for this mutation and the A to G transition was found on 61 out of 72 alleles associated with LI and on 9 out of 15 alleles associated with CIE. These findings suggest a single founder mutation for the majority of patients with LI and CIE in Norway. The 2526A-->G mutation results in the insertion of a guanosine at position 877 (876insG) in the mature cDNA and the frame shift creates a premature termination at codon 293. The mutation was previously observed in one family with a resulting cDNA that included the entire intron 5. These results suggest that the mutation can result in variant transcripts in different individuals.

Alleles↗
PubMed1998

Ichthyosiform erythroderma associated with generalized pustulosis.

Two unrelated boys are described who were born as collodion babies and subsequently developed non-bullous ichthyosiform erythroderma and flares of generalized sterile pustulosis, similar to generalized pustular psoriasis. Both patients had a good response to treatment with oral retinoids.

Acute Disease↗
PubMed1998

Unusual hyperpigmentation developing in congenital reticular ichthyosiform erythroderma (ichthyosis variegata).

We present an unusual new clinical feature which developed in a patient with congenital reticular ichthyosiform erythroderma. This rare ichthyotic disorder is characterized by erythematous ichthyotic skin surrounding slowly enlarging areas of normal skin, and by a pathognomonic ultrastructural pattern, namely perinuclear deposits of a filamentous material in vacuolized keratinocytes. At the age of 18 years, a 23-year-old woman developed several irregular hyperpigmented macules on her limbs, which were almost black in colour. These lesions have not been observed in the other patients affected by the disease nor, to our knowledge, in other ichthyotic disorders. Electron microscopy and immunohistochemistry demonstrated that the lesions were strictly related to the ichthyotic skin and that their dark colour was especially due to melanosome accumulation in activated dendritic melanocytes. An unusual postinflammatory hyperpigmentation, in which the lack of pigment deposition in the keratinocytes is due to a transfer defect in pathological cells, is hypothesized. A characteristic hyperplastic stimulation of the epidermis is also taken into consideration to explain the lack of a similar picture in other erythrodermic ichthyotic disorders with a continuous inflammatory process.

Adult↗
PubMed2001

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

The intermediate filaments of epithelial cells are formed by keratins, a family of structurally related proteins, which are expressed in pairs of acidic (type I) and basic (type II) polypeptides in a tissue- and differentiation-specific manner. Mutations in the genes encoding several keratins have been implicated in the pathogenesis of diseases of keratinization. We report molecular analysis of two patients with the rare autosomal dominant disorders bullous congenital ichthyosiform erythroderma (BCIE) and ichthyosis bullosa of Siemens (IBS). Previous studies have shown that these genodermatoses are due to mutations in the KRT1 and KRT2E genes, respectively. We report a new amino acid substitution mutation in codon 155 of KRT1 (valine to aspartic acid) in the conserved H1 domain of the protein in the patient with BCIE. We also report a novel amino acid substitution mutation in codon 192 of KRT2E (asparagine to lysine) in the conserved 1A helix initiation peptide of the protein in the patient with IBS. Our results demonstrate that these mutations are deleterious to keratin filament network stability and lead to specific clinical inherited disorders of keratinization.

Adult↗
PubMed2003

Giant condyloma of Buschke-Loewenstein in association with erythroderma.

The Buschke-Loewenstein tumour is regarded as a type of verrucous carcinoma occurring on anogenital mucosal surfaces. The tumour is locally invasive but displays a benign cytology and rarely metastasizes. It is associated with human papillomavirus types 6 and 11. We describe a case of Buschke-Loewenstein tumour occurring in a 61-year-old man which behaved in a locally aggressive manner and was associated with human papillomavirus type 16 and erythroderma which proved resistant to treatment. The patient refused surgery and therapy with interferon alpha was ineffective. Chemotherapy with systemic cisplatin and 5-fluorouracil produced a partial response before the patient succumbed from gram-negative septicaemia.

Anti-Bacterial Agents↗
PubMed2000

Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.

Recently, mutations of keratin 1 gene (KRT1) and keratin 10 gene (KRT10) have been reported in various patients with bullous congenital ichthyosiform erythroderma (BCIE). The substitution of arginine (R) to histidine (H) at amino acid residue 156 (R156H) of coiled 1A region is one of the most frequent mutations of KRT10. In this study, we searched for a mutation in KRT1 and KRT10 in a Japanese family with BCIE and detected mutation R156H in KRT10. Our search led to the detection of R156H. This mutation was not detected in 50 normal individuals. These results confirmed that codon 156 is a frequently mutated site, and that R156H in KRT10 is likely also to be a mutation hotspot in Japanese patients with BCIE.

Amino Acid Substitution↗
PubMed1998

A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.

Annular epidermolytic ichthyosis is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma that has recently been described in two separate kindreds. Individuals with this variant present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. Characteristically, they also develop intermittent bouts of annular and polycyclic, erythematous, scaly plaques on the trunk and proximal extremities. We now describe a third kindred with annular epidermolytic ichthyosis. Molecular analysis of this family revealed a novel mutation resulting in an isoleucine to threonine substitution at residue 107 (codon 446) within the highly conserved helix termination motif at the end of the rod domain of keratin 10.

Adult↗
PubMedDate not supplied

Fatal erythroderma (suspected graft-versus-host disease) after cholecystectomy. Retrospective analysis.

Fatal postoperative erythroderma (POE) developed in a 52-year-old woman with gallstones who underwent elective cholecystectomy. During surgery, she was transfused with 3 units of unirradiated packed red cells stored in the liquid state for at least 4 days after collection. The POE is believed to have been the result of transfusion-associated graft-versus-host disease (TA-GVHD). The diagnosis of GVHD was based upon the characteristic clinical picture and retrospective HLA typing. The implicated donor was homozygous for an HLA haplotype that appeared to be shared with the recipient: A24-CBL-Bw52-DR2-DRw52-DQw1, the most common haplotype in the Japanese population. This case raises the possibility that a transfusion of relatively fresh blood from a donor who has no HLA antigens incompatible with the recipient may result in GVHD in patients with no apparent immunoincompetence who are undergoing relatively minor surgery with no chemotherapy or radiation therapy.

Blood Transfusion↗
PubMed2003

Severe subacute cutaneous lupus erythematosus presenting with generalized erythroderma and bullae.

A 31-year-old woman presented with progressive generalized erythroderma and bullae. Histologic evaluation revealed dyskeratosis and interface dermatitis with a paucity of infiltrate. Serologic evaluation revealed markedly elevated titer of Ro/SS-A and La/SS-B antibodies. Further workup revealed leukopenia. The generalized eruption cleared with prednisone. The patient later had the classic discrete lesions of subacute cutaneous lupus erythematosus develop. The erythrodermic and bullous presentation of subacute cutaneous lupus erythematosus is rare and requires a high index of suspicion.

Adult↗
PubMed2000

Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A.

We present an 11-year-old female with bullous ichthyosiform erythroderma (BIE), learning disability, patent ductus arteriosus and mild stenosis of the aortic and pulmonary arteries. Chromosome analysis showed the expression of the rare folate-sensitive fragile site FRA12A at 12q13 in 8/20 (40%) of blood lymphocytes cultured in folate-deficient medium in the presence of trimethoprim. Her mother and maternal grandmother are phenotypically normal, but her mother shows expression of the same fragile site in 4/20 (20%) of cells cultured under the same conditions. Lymphocytes from the grandmother only showed expression of the fragile site when cultured in the presence of methotrexate in folate deficient medium. Interestingly, two genes (keratin 1 and keratin 2e) which are known to cause BIE map to 12q13. Molecular data is presented excluding three candidate (CCG)n repeats within keratin 1 gene. We present a review of previously reported FRA12A cases and discuss possible molecular explanations for the clinical findings in this patient.

Aortic Valve Stenosis↗
PubMed1997

A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.

Annular epidermolytic ichthyosis has recently been delineated as a distinct clinical phenotype within the spectrum of epidermolytic keratinization disorders. The pattern of inheritance of the disorder is consistent with an autosomal dominant mode of transmission. Here we report a second incidence of this disorder in a family with two affected generations. The proband suffered from bullous ichthyosis and had bouts of disease activity associated with the development of numerous annular and polycyclic erythematous, hyperkeratotic plaques on the trunk and the proximal extremities. Histologic examination showed the typical pathology of epidermolytic hyperkeratosis, and ultrastructural analysis revealed abnormal keratin filament networks and tonofilament clumping with a perinuclear distribution. Molecular analysis revealed a novel tandem CG to GA 2-bp mutation in the same allele of keratin 10 in affected individuals, resulting in an arginine to glutamate substitution at residue 83 (R83E) of the 2B helical segment. We conclude that annular epidermolytic ichthyosis should be considered a variant of bullous congenital ichthyosiform erythroderma.

Adult↗
PubMed1994

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

Bullous congenital ichthyosiform erythroderma is a human hereditary skin disorder in which suprabasal keratinocytes rupture. Recent reports have implicated keratins K1 and K10 in this disease. Here we describe four diverse keratin mutations that are all significantly associated with this disease. Two of these are in the helix 1A subdomain of the type II keratin 1, giving a serine-to-proline substitution in codon 185 and an asparagine-to-serine substitution in codon 187. In the analogous region of type I keratin 10, an arginine-to-proline and an arginine-to-serine transition in codon 156 have been identified. All four mutations create restriction fragment length polymorphisms that were used exclude the mutations from 120 normal chromosomes. Insertional polymorphism (in the V2 subdomains of the non-helical tails of K1 and K10) was excluded as the cause of the phenotypic heterogeneity observed within one family.

Amino Acid Sequence↗
PubMed1988

The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies.

The first born offspring of first-cousin parents was affected with a keratinization disorder thought to be nonbullous congenital ichthyosiform erythroderma (CIE). In each of three subsequent pregnancies, the parents elected to have prenatal diagnosis based on evaluation of fetal skin biopsies. The epidermis of fetus 1 was identical to normal 21-wk estimated gestation age (EGA) fetal epidermis, but because keratinization begins normally around 24 wk EGA, the procedure was repeated 4 wk later. A thin epidermis with a few layers of stratum corneum indicated a normal fetus and a healthy infant was born at term. Skin biopsy samples from fetus 2 gave conflicting results; the epidermis of one sample appeared normal but the second had 5-15 layers of incompletely keratinized cells superficial to basal and intermediate layers. The hair canals of both samples were hyperkeratotic. Pelleted amniotic fluid cells contained aggregates of incompletely keratinized epidermal cells and concentric rings of keratinized cells. The fetus was thought to be affected and the pregnancy terminated. Regional variation in epidermal thickness and keratinization was noted upon gross examination of the fetus and by histology of the skin. Marked hyperkeratinization of follicles was evident in all regions. No abnormal keratins were expressed in the affected epidermis but epidermal lipids analyzed from two body regions had a lower triglyceride content and a higher content of free sterols compared with age-matched, normal fetal epidermis. Immunolabeling for markers of differentiation revealed variable stages of epidermal differentiation according to region. Four structurally identical biopsy samples were obtained from a third fetus. The epidermis appeared normal for age and hair canals were keratinized to various extents. The pregnancy was continued and at 33 wk a male infant was born with a severe ichthyosis of the face and scalp and fine, white scaling on the body. The epidermis of both the severely and mildly affected regions of the newborn had a thick, compact stratum corneum and other features of CIE. Scars from all four fetal biopsies were identified on the trunk, in areas which appeared less affected clinically. This study reports, for the first time, the criteria for prenatal diagnosis of CIE and the variable expression of this disorder in the midtrimester fetus. More importantly, it demonstrates the risks and pitfalls of this in utero diagnosis based on epidermal morphology.

Adult↗
PubMed2005

Erythroderma with lichenoid granulomatous features induced by erythropoietin.

The increasing use of new drugs in cancer therapy, especially growth factors, hormones, and chemotherapies resulted in several reports of unusual skin eruptions. We studied a patient with erythroderma who had received erythropoietin because of myeloma with tumor anemia. The histological features were characterized by a lichenoid, focally granulomatous infiltrate with predominance of histiocytes. It is important for dermatopathologists to recognize this interesting pattern induced by erythropoietin.

Anemia↗
PubMed2000

Difficulties in treating steroid withdrawal: intermittent ACTH and low dose systemic cyclosporin used to treat a senile erythroderma patient.

The tapering or termination of prolonged strong topical and/or systemic corticosteroid application for extensive generalized eczema has adverse effects on the body and thus presents a very difficult situation. The present case is that of a 68-year-old man with erythroderma following eczema, whose steroid withdrawal was successfully treated with intermittent ACTH and low dose systemic cyclosporin administration over a period of one year.

Adrenocorticotropic Hormone↗
PubMed2002

A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.

We described a 19-year old Japanese female with bullous congenital ichthyosiform erythroderma (BCIE) and examined the keratin gene mutation. Physical examination disclosed generalized erythema, ichthyosiform skin with scales, and erosions without palmoplantar keratoderma. Histological examination revealed hyperkeratosis with vacuolar degeneration in the granular layer of the epidermis. Sequence analysis demonstrated a C to G transition at the first position of codon 156 in the keratin 10 gene. The amino acid at codon 156 was deduced to have changed from arginine to cystine. Substitution from arginine to cysteine at codon 156 of the K 10 gene is assumed to be fatal for keratin filament assembly regardless of racial or ethnic difference.

Adult↗