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Ichthyosis
Kinds of Ichthyosis Terms modified by Ichthyosis Selected AbstractsNeurological features in Gaucher's disease during enzyme replacement therapyACTA PAEDIATRICA, Issue 2 2001H Ono This report describes two patients with Gaucher's disease who had unusual clinical symptoms during enzyme replacement therapy. One patient was a female with type 3 Gaucher's disease. She developed a pericardial effusion at 7 y of age, which contained many Gaucher cells despite enzyme replacement therapy. She died from neurological deterioration during enzyme replacement therapy, despite an improvement in her visceral manifestations. The other patient is a male with type 2 Gaucher's disease, who has achieved long-term survival after being supported by mechanical ventilation and enzyme replacement therapy. While on enzyme replacement therapy at the age of 4y, he suffered a generalized cutaneous disease which was clinically diagnosed as ichthyosis. Conclusion: These cases suggest that ordinary enzyme replacement therapy is insufficient for some of the non-neurological manifestations of severe types of Gaucher's disease. [source] The differential diagnosis of atopic dermatitis in childhoodDERMATOLOGIC THERAPY, Issue 2 2006Alfons Krol ABSTRACT:, Atopic is the most common of the dermatitides seen in infancy and childhood, but there are numerous other diseases that can mimic the skin findings. These include seborrheic dermatitis, immunodeficiency, and psoriasis in infancy; scabies, tinea corporis infection, perioral, nummular, contact, and molluscum dermatitis in childhood. It is sometimes extremely difficult to differentiate between ichthyosis and AD, and it is also important to differentiate AD from erythrodermic conditions including acrodermatitis enteropathica, biotin deficiency, and Netherton syndrome. A rare condition in children that may mimic AD is mycosis fungoides. [source] An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention DeficitsEPILEPSIA, Issue 12 2003Michael J. Doherty Summary:,Purpose: We describe two brothers with generalized epilepsy, attention deficits, congenital ichthyosis, and Leri,Weill dyschondrosteosis who harbor an unusual Xp; Yq translocation chromosome, resulting in a novel contiguous gene syndrome because of deletion of genes from the distal short arm of the X chromosome. Methods: Physical examination, neuropsychologic testing, EEG, and neuroimaging studies were performed. Because of their unusual phenotype, karyotyping, fluorescence in situ hybridization, and further molecular analyses were carried out to refine the break points of the underlying unbalanced sex chromosome rearrangement. Results: The subjects had generalized epilepsy, X-linked ichthyosis, Madelung deformities, mesomelia, normal intelligence, and attention deficits. The brothers' karyotype was unbalanced; they inherited a maternal derivative X chromosome. Deleted distal Xp genes included short-stature homeobox on the X chromosome (SHOX), aryl sulfatase E (ARSE), variably charged X-chromosome mRNA gene A (VCX-A), and steroid sulfatase (STS). The final karyotype was 46,Y,der(X)t(X; Y)(p22.3; q11.2).ish der(X) (DXZ1+, KAL+, STS-, SHOX-) mat. Conclusions: Loss of distal contiguous Xp genes resulted in a syndrome comprising bony deformities, ichthyosis, attention problems, and generalized epilepsy. Candidate epilepsy genes within the deleted segment, such as ASMT, a gene involved in the final synthesis of melatonin, are discussed. Cytogenetic analyses should be included in the clinical evaluation of patients with generalized epilepsy and complex phenotypes. [source] Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1,HUMAN MUTATION, Issue 4 2009Matthew L. Herman Abstract Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the United States. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. Structurally defective or attenuated cornified cell envelop have been shown in epidermal scales and appendages of ARCI patients with TGM1 mutations. We review the clinical manifestations as well as the molecular genetics of ARCI. In addition, we characterized 115 TGM1 mutations reported in 234 patients from diverse racial and ethnic backgrounds (Caucasion Americans, Norwegians, Swedish, Finnish, German, Swiss, French, Italian, Dutch, Portuguese, Hispanics, Iranian, Tunisian, Moroccan, Egyptian, Afghani, Hungarian, African Americans, Korean, Japanese and South African). We report 23 novel mutations: 71 (62%) missense; 20 (17%) nonsense; 9 (8%) deletion; 8 (7%) splice-site, and 7 (6%) insertion. The c.877-2A>G was the most commonly reported TGM1 mutation accounting for 34% (147 of 435) of all TGM1 mutant alleles reported to date. It had been shown that this mutation is common among North American and Norwegian patients due to a founder effect. Thirty-one percent (36 of 115) of all mutations and 41% (29 of 71) of missense mutations occurred in arginine residues in TGase-1. Forty-nine percent (35 of 71) of missense mutations were within CpG dinucleotides, and 74% (26/35) of these mutations were C>T or G>A transitions. We constructed a model of human TGase-1 and showed that all mutated arginines that reside in the two beta-barrel domains and two (R142 and R143) in the beta-sandwich are located at domain interfaces. In conclusion, this study expands the TGM1 mutation spectrum and summarizes the current knowledge of TGM1 mutations. The high frequency of mutated arginine codons in TGM1 may be due to the deamination of 5, methylated CpG dinucleotides. Hum Mutat 0, 1,12, 2009. © 2009 Wiley-Liss, Inc. [source] Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2),HUMAN MUTATION, Issue 1 2005William B. Rizzo Abstract Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromosome 17p11.2 that encodes fatty aldehyde dehydrogenase (FALDH), an enzyme that catalyzes the oxidation of long-chain aldehydes derived from lipid metabolism. In SLS patients, 72 mutations have been identified, with a distribution that is scattered throughout the ALDH3A2 gene. Most mutations are private but several common mutations have been detected, which probably reflect founder effects or recurrent mutational events. Missense mutations comprise the most abundant class (38%) and expression studies indicate that most of these result in a profound reduction in enzyme activity. Deletions account for about 25% of the mutations and range from single nucleotides to entire exons. Twelve splice-site mutations have been demonstrated to cause aberrant splicing in cultured fibroblasts. To date, more than a dozen intragenic ALDH3A2 polymorphisms consisting of SNPs and one microsatellite marker have been characterized, although none of them alter the FALDH protein sequence. The striking mutational diversity in SLS offers a challenge for DNA-based diagnosis, but promises to provide a wealth of information about enzyme structure,function correlations. Hum Mutat 26(1), 1,10, 2005. © 2005 Wiley-Liss, Inc. [source] A rare connexin 26 mutation in a patient with a forme fruste of keratitis,ichthyosis,deafness (KID) syndromeINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 10 2009Ching Yin Neoh MBBS, MMed(Int Med) Background, Keratitis,ichthyosis,deafness (KID) syndrome is a rare ectodermal dysplasia characterized by generalized erythrokeratotic plaques, sensorineural hearing loss, and vascularizing keratitis. Cutaneous changes and hearing loss typically present in early childhood, whereas ocular symptoms present later. Mutations in the connexin (Cx) 26 gene, GJB2, are now established to underlie many of the affected cases, with the majority of patients harboring the p.D50N mutation. Methods, A rare patient demonstrating features of incomplete KID syndrome associated with an uncommon Cx26 gene mutation is described. Results, The patient presented late in adolescence with partial features of KID syndrome. There was limited cutaneous involvement and the rare association of cystic acne. Both hearing impairment and ophthalmic involvement were mild in severity. Genetic mutation analysis revealed a previously described, rare mutation in GJB2, resulting in a glycine to arginine change at codon 12 (p.G12R). Conclusions, This report describes a patient exhibiting characteristics suggestive of a late-onset, incomplete form of KID syndrome with the GJB2 mutation (p.G12R). The p.G12R mutation has only been described in one other patient with KID syndrome, whose clinical presentation was not characterized. [source] Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) geneINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 2 2009Luz Gonzalez-Huerta MD A 70-year-old male presented with very large, thick, tightly adherent, dark-brown scales on the front of his lower extremities. His face, neck, back, abdomen, upper extremities, flexural areas, palms and soles as well as hair and nails were not involved. Family history was negative for similar lesions. Otherwise, the patient had a normal development. Onset of symptoms occurred during childhood with scales on lower extremities with no more additional features. Treatment included emollients exclusively with partial and temporary remission of cutaneous lesions. Recently, the patient had not received topical or systemic medical treatment. Laboratory investigations were within normal limits. The patient had undetectable levels of STS activity when compared with normal control (0.00 pmol mg -1 protein h -1) which confirmed the diagnosis of X-linked ichthyosis (XLI) . PCR analysis showed deletion of the STS gene, markers DXS1139 and DXF22S1and the 5, end of the VCX3A gene. The patient had scales present on lower extremities only with no medical treatment that corresponded to an unusual clinical manifestation of XLI. Clinical manifestations of XLI are due to a great variety of environmental, genetic and individual factors that should be considered in XLI diagnosis. [source] Chanarin,Dorfman syndrome with eccrine gland vacuolation: a case reportINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 12 2008Manish Pahwa Chanarin,Dorfman syndrome is a rare congenital disorder of lipid metabolism characterized by ichthyosis, leukocytic vacuolation (Jordan's anomaly), and variable involvement of the liver and neuromuscular system, with about 40 cases described worldwide to date. We report one more case of this rare syndrome, with certain peculiarities, namely vacuolation in eccrine glands, in a young male adult. [source] Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational eventINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 1 2005Nicole L. Lacz MD Epidermolytic hyperkeratosis is an unusual type of ichthyosis. This inherited keratinization disorder is characterized clinically by erythema, blistering, and peeling shortly after birth. It may resolve and be replaced with thick scaling. It can lead to life-threatening complications, such as sepsis. Histologically, there is a hyperkeratosis and vacuolar degeneration. Genetically, this is an autosomal dominant disease with complete penetrance; however, 50% are spontaneous mutations. The clinical phenotype is a result of alterations in the gene(s) for keratin 1 and/or 10. We review this disorder and its therapy, which is mainly symptomatic with emollients and retinoids. [source] Expression of stratum corneum chymotryptic enzyme in ichthyoses and squamoproliferative processesJOURNAL OF CUTANEOUS PATHOLOGY, Issue 6 2003Brad Johnson Objective:, Stratum corneum chymotryptic enzyme (SCCE) is a serine protease, which is thought to play a role in the desquamation of skin via the proteolysis of desmosomes in the stratum corneum. The objective of this study was to investigate the expression of SCCE in ichthyoses and squamoproliferative processes, conditions in which the shedding and replacement of epidermal cells is disrupted. Design:, Tissue samples from cases of Netherton's syndrome, congenital ichthyosiform erythroderma, ichthyosis vulgaris, actinic keratosis, squamous cell carcinoma in situ, and invasive squamous cell carcinoma were examined for expression of SCCE using immunohistochemistry. Main outcome measures:, The slides were qualitatively analyzed for the expression of SCCE by a certified dermatopathologist. Results:, In all disease states, we found that the expression of SCCE was absent in areas of parakeratotic stratum corneum of normal thickness. In areas of mixed orthokeratosis and parakeratosis where the stratum corneum was greatly thickened as might correspond clinically to a cutaneous horn, SCCE staining was either absent or focally aggregated without regard to orthokeratosis or parakeratosis. Of note, complete absence of SCCE expression was not observed in any of the cases of ichthyosis examined, nor was there increased expression of SCCE in the atypical cells of the squamoproliferative disorders. Conclusions:, These results suggest that SCCE is abnormally expressed in skin where epidermal cell kinetics are disrupted due to inherited and acquired defects. Further investigation is needed to determine causality between the abnormal expression of SCCE and the altered cell kinetics in these diseases. [source] Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese familyJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 2 2010M Kurban No abstract is available for this article. [source] The clinical benefit of moisturizersJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 6 2005M Lodén ABSTRACT Moisturizing creams marketed to consumers often contain trendy ingredients and are accompanied by exciting names and attractive claims. Moisturizers are also an important part of the dermatologist's armamentarium to treat dry skin conditions and maintain healthy skin. The products can be regarded as cosmetics, but may also be regulated as medicinal products if they are marketed against dry skin diseases, such as atopic dermatitis and ichthyosis. When moisturizers are used on the so-called dry skin, many distinct disorders that manifest themselves with the generally recognized symptoms of dryness are treated. Dryness is not a single entity, but is characterized by differences in chemistry and morphology in the epidermis depending on the internal and external stressors of the skin. Patients and the society expect dermatologists and pharmacists to be able to recommend treatment for various dry skin conditions upon evidence-based medicine. Learning objective, Upon completing this paper, the reader should be aware of different types of moisturizers and their major constituents. Furthermore, s/he will know more about the relief of dryness symptoms and the functional changes of the skin induced by moisturizers. [source] Double-blind clinical study reveals synergistic action between alpha-hydroxy acid and betamethasone lotions towards topical treatment of scalp psoriasisJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 1 2000K Kostarelos Abstract Objective A double-blind, single-site, split-face clinical study was organized and carried out in order to evaluate the efficacy, tolerability, and safety of a glycolic acid containing scalp lotion in conjunction with a betamethasone (as the 17-valerate) scalp application against conditions of psoriasis. Background,-hydroxy acids (AHA) have been proposed as therapeutic modalities against skin exfoliative conditions such as ichthyosis, xeroderma, and psoriasis. AHAs are hereby clinically investigated as therapeutic modalities adjuvant to corticosteroids in order to diminish systemic and topical adverse side-effects most frequently associated with use of the latter. Methods Twenty patients suffering from scalp psoriasis and other psoriatic conditions were included in a double-blind, split-face clinical study, using combinations of a 10% (w/w) glycolic acid scalp lotion, placebo lotion (excipients only), and a 0.1% (w/w) betamethasone scalp application, applied twice daily without any bandage for a period of 8 weeks. Clinical assessments were carried out by highly experienced physician evaluations based on a four-grade scale, prior to treatment and after 2, 4, 6 and 8 weeks. Results Improvement was observed in all cases included in the study following treatment with the 10% glycolic acid lotion. However, when equal parts of the 0.1% betamethasone lotion were combined, most of the treated sites were healed. Moreover, the duration of treatment required for healing was in this case reduced to approximately half of that needed when the glycolic acid or the betamethasone lotions were used separately for treatment. Conclusions The present clinical study demonstrates for the first time that the effective and well tolerated therapeutic efficacy of glycolic acid scalp lotions is enhanced when used in conjunction with a 0.1% betamethasone scalp application against scalp psoriasis. This potential offers the practising dermatologist with novel treatment modes against severe skin conditions by combining topical corticosteroid with exfoliative agent therapy. [source] Eccrine Squamous Metaplasia and Periadnexal Granulomas: New Cutaneous Histopathologic Findings in Cardiofaciocutaneous SyndromePEDIATRIC DERMATOLOGY, Issue 3 2010Michelle L. Jeffries D.O. Previously reported skin and hair findings in cardiofaciocutaneous syndrome include sparse, slow-growing curly hair, atopic dermatitis, ichthyosis, follicular hyperkeratosis, and keratosis pilaris. We report the case of a 4-year-old boy who has cardiofaciocutaneous syndrome with previously unreported histopathologic findings of eccrine squamous metaplasia and periadnexal granuloma. [source] Acquired Ichthyosis as a Manifestation of Acute Cutaneous Graft-Versus-Host DiseasePEDIATRIC DERMATOLOGY, Issue 1 2007Jennifer Huang M.D. While some authors have suggested the association of acquired ichythosis with cutaneous graft-versus-host disease, the evidence to support this association is rare. We describe a patient who developed enteritis secondary to acute graft-versus-host disease and had concomitant ichthyosiform lesions. Several months later, he was diagnosed with cutaneous graft-versus-host disease. This patient is presented to suggest that acquired ichthyosis is an underrecognized manifestation of acute cutaneous graft-versus-host disease. Given the important prognostic implications of this diagnosis, we recommend a low threshold for performing a skin biopsy to rule out GVHD in the appropriate clinical setting. [source] Acute Percutaneous Lactic Acid Poisoning in a ChildPEDIATRIC DERMATOLOGY, Issue 3 2006Manuela Esteban Ramírez M.D. We report a young girl with lamellar ichthyosis and symptoms of poisoning, with clinical signs of irritability, agitation, myoclonia, and difficulty in walking, accompanied by lactic acidosis as a result of the more frequent than recommended application of emollients containing lactic acid. The clinical symptoms resolved upon discontinuation of the topical treatment. Among the possible causes of metabolic acidosis, health care providers should be aware of the possibility of percutaneous poisoning. [source] Holocarboxylase Synthetase Deficiency Presenting as IchthyosisPEDIATRIC DERMATOLOGY, Issue 2 2006H. Alan Arbuckle M.D. Clinical manifestations usually present within the first few days of life and include severe acidosis, feeding difficulties, breathing abnormalities, vomiting, seizures, progressive loss of consciousness, coma, and death. Skin findings, when present, usually develop within the first weeks of life and are described as an erythroderma-like dermatitis involving the eyebrows, eyelashes, and scalp. We were asked to consult on a newborn with a collodion membrane and severe metabolic acidosis who was eventually diagnosed with holocarboxylase synthetase deficiency and ichthyosis. The diagnosis of holocarboxylase synthetase deficiency might be considered in a newborn with collodion membrane, ichthyosis, and acidosis. [source] Harlequin Ichthyosis in Association with Hypothyroidism and Juvenile Rheumatoid ArthritisPEDIATRIC DERMATOLOGY, Issue 5 2003Yuin-Chew Chan M.D. Two Chinese children, a 2-year-old boy and an 11-year-old girl, presented with these classic features as well as alopecia and loss of eyebrows and eyelashes. The boy was small for his age and was found to have hypothyroidism at the age of 18 months; he is currently on thyroxine replacement therapy. At 6 years of age, the girl developed symmetrical polyarthritis associated with positive rheumatoid factor and radiologic evidence of erosive arthritis, suggestive of juvenile rheumatoid arthritis. She received prednisolone, nonsteroidal anti-inflammatory drugs (NSAIDs), and subsequently methotrexate for her arthritis, with clinical and radiologic improvement. Early therapy with oral retinoids in both children accelerated shedding of the hyperkeratotic plates as well as improved ectropion and eclabium. There was no major adverse reaction to oral retinoids. The development of juvenile rheumatoid arthritis in survivors with harlequin ichthyosis has not been previously described. The use of prednisolone and NSAIDs in the girl did not affect the skin condition, but the addition of methotrexate led to a decrease in erythema. The association with autoimmune disease is probably coincidental. The psychosocial impact of this severe lifelong disease on the two families was enormous. Early retinoid therapy may improve the disorder and help increase survival rates. A multidisciplinary approach, including psychosocial support of the affected families, is vital in the management of this lifelong disease. [source] New-Onset Ichthyosis and Diabetes in a 14-Year-OldPEDIATRIC DERMATOLOGY, Issue 6 2001Noah Scheinfeld JD Diabetes has not been linked to acquired ichthyosis or ichthyosis vulgaris. We report a newly diagnosed diabetic 14-year-old girl with bilateral tibial and sacral ichthyosiform plaques and a hemoglobin A1c of 20.1%. The patient had no personal or family history of atopy or ichthyosis and lacked keratosis pilaris or hyperlinear palms. A biopsy specimen of an ichthyosiform plaque showed compact lamellar orthohyperkeratosis and hypogranulosis, histopathology consistent with either ichthyosis vulgaris or acquired ichthyosis. We speculate that our patient's new-onset diabetes induced acquired ichthyosis. [source] Acquired ichthyosis associated with an overlap syndrome of systemic sclerosis and systemic lupus erythematosusTHE JOURNAL OF DERMATOLOGY, Issue 1 2006Hae-Woong LEE ABSTRACT Acquired ichthyosis is a condition accompanying many systemic illnesses such as lymphoma, sarcoidosis, dermatomyositis and systemic lupus erythematosus (SLE). Overlap syndromes are defined as clinical entities which satisfy each of the diagnostic criteria of two different connective tissue diseases concurrently or consecutively. The coexistence of SLE with systemic sclerosis has been very rarely reported. We describe a 33-year-old woman with an overlap syndrome consisting of systemic sclerosis and SLE who developed ichthyosis on her extremities. [source] Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10BRITISH JOURNAL OF DERMATOLOGY, Issue 6 2010C. Covaciu Epidermolytic ichthyosis (EI; MIM 113800), previously named bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling and easily breaking blisters that become less frequent later in life while hyperkeratosis increases.1 EI is caused by dominant mutations in either KRT1 or KRT10, encoding keratin 1 (K1) and keratin 10 (K10), respectively.1 Usually, mutations are missense substitutions into the highly conserved ,-helical rod domains of the proteins.2,3 However, three inbred pedigrees in which EI is transmitted as a recessive trait due to KRT10 null mutations have been described.4,6 [source] Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogsBRITISH JOURNAL OF DERMATOLOGY, Issue 2 2009K.M. Credille Summary Background, Congenital, nonepidermolytic cornification disorders phenotypically resembling human autosomal recessive ichthyosis have been described in purebred dog breeds, including Jack Russell terrier (JRT) dogs. One cause of gene mutation important to humans and dogs is transposon insertions. Objectives, To describe an autosomal recessive, severe nonepidermolytic ichthyosis resembling lamellar ichthyosis (LI) in JRT dogs due to insertion of a long interspersed nucleotide element (LINE-1) in the transglutaminase 1 (TGM1) gene. Methods, Dogs were evaluated clinically, and skin samples were examined by light and electron microscopy. Phenotypic information and genotyping with a canine microsatellite marker suggested TGM1 to be a candidate gene. Genomic DNA samples and cDNA generated from epidermal RNA were examined. Consequences of the mutation were evaluated by Western blotting, quantitative reverse transcription-polymerase chain reaction (RT-PCR) and enzyme activity from cultured keratinocytes. Results, Affected dogs had generalized severe hyperkeratosis. Histological examination defined laminated to compact hyperkeratosis without epidermolysis; ultrastructurally, cornified envelopes were thin. Affected dogs were homozygous for a 1980-bp insertion within intron 9 of TGM1. The sequence of the insertion was that of a canine LINE-1 element. Quantitative RT-PCR indicated a significant decrease in TGM1 mRNA in affected dogs compared with wild-type. TGM1 protein was markedly decreased on immunoblotting, and membrane-associated enzyme activity was diminished in affected dogs. Conclusions, Based on morphological and molecular features, this disease is homologous with TGM1-deficient LI in humans, clinically models LI better than the genetically modified mouse and represents its first spontaneous animal model. This is the first reported form of LI due to transposon insertion. [source] Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosisBRITISH JOURNAL OF DERMATOLOGY, Issue 3 2008S.A. Cuevas-Covarrubias Summary Background, X-linked ichthyosis (XLI), an inborn error of metabolism, is due to steroid sulphatase (STS) deficiency. Most patients with XLI harbour complete deletion of the STS gene and flanking sequences. The presence of low copy number repeats on either side of the STS gene seems to have a major role in the high frequency of these deletions. Some patients with XLI with terminal deletions of Xp22.3 involving marker DXS1139 and the STS gene show mental retardation (MR); VCX3A is the only gene located on this critical region. Objectives, To analyse the VCX3A, VCX, VCX2 and VCX3B genes in 80 unrelated Mexican patients with XLI with normal intelligence. Methods, STS activity was measured in the leucocytes using 7-[3H]-dehydroepiandrosterone sulphate as a substrate. Amplification of the regions from telomeric DXS89 to centromeric DXS1134 including both extremes of the STS and the VCX3A, VCX, VCX2 and VCX3B genes was performed using polymerase chain reaction. Results, No STS activity was detected in the patients with XLI (0·00 pmol mg,1 protein h,1). We observed two different deletion patterns: the first group included 62 patients with deletion of VCX3A and VCX genes. The second group included 18 patients with breakpoints at several regions on either side of the STS gene not including the VCX3A gene. Conclusions, These data indicate that more complex mechanisms, apart from possible VCX3A gene participation, are occurring in the genesis of MR in XLI, at least in the sample of Mexican patients analysed. [source] Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literatureBRITISH JOURNAL OF DERMATOLOGY, Issue 1 2006M.M. Gedicke Summary Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb palmoplantar keratoderma but no occurrence of pseudoainhums or autoamputations. All patients were born as collodion babies and displayed prominent knuckle pads. We identified the previously reported mutation 730insG in LOR, which elongates loricrin by 22 amino acids because of delayed termination. As pseudoainhums are missing in all patients of the family reported, we propose two compulsory features of loricrin keratoderma: (i) honeycomb palmoplantar keratoderma and (ii) diffuse ichthyosiform dermatosis. Therefore we suggest that the condition should be described clinically as ,honeycomb palmoplantar keratoderma with ichthyosis'. Furthermore, we have assessed the amounts of transcript of LOR using pyrosequencing. This revealed an equal expression of mutant and wild-type alleles of LOR in an affected individual. These findings further underline the gain-of-function theory for mutant LOR in loricrin keratoderma. [source] Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)BRITISH JOURNAL OF DERMATOLOGY, Issue 4 2006L. Feldmeyer First page of article [source] X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanismBRITISH JOURNAL OF DERMATOLOGY, Issue 1 2005C. Thauvin-Robinet No abstract is available for this article. [source] Cross-linked envelopes in nail plate in lamellar ichthyosisBRITISH JOURNAL OF DERMATOLOGY, Issue 5 2003R.H. Rice Summary Background Corneocytes of the nail plate, like those of the stratum corneum, generate cornified envelopes (CEs) of cross-linked protein that can be visualized readily after removal of non-cross-linked protein by detergent extraction. Defective CE formation occurs in epidermal scale and hair in transglutaminase 1 (TGM1)-negative lamellar ichthyosis (LI) and has been proposed as a diagnostic aid for this syndrome. Objectives (i) To ascertain whether TGM1 is important for CE formation in nail; (ii) to characterize CE abnormalities occurring in LI that may be distinguished from other types of inherited ichthyosis when nail samples are subjected to detergent extraction; and (iii) to evaluate the utility of nails as a diagnostic aid for LI. Methods Nail samples were provided by nine patients previously classified as having TGM1-negative LI, four with other types of ichthyotic conditions and six normal controls. Samples were extracted extensively in sodium dodecyl sulphate under reducing conditions and examined by light and electron microscopy. Results After extraction, defective CE cross-linking was visualized in epidermal corneocytes from seven of nine patients exhibiting TGM1-negative LI, whereas nail samples from patients with the other syndromes were normal. The defects in CE structure resembled those recently reported for LI scale, although in some cases residual CE and CE-associated structures were present. Conclusions Despite the paucity of clinical nail symptoms in LI, TGM1 activity is important for generation of normal CE in nail plate, consistent with its importance in protein cross-linking in interfollicular epidermis and hair. Lack of this activity leads to a strikingly aberrant appearance of CE in LI nail after detergent extraction that is evident ultrastructurally in a large majority of cases. Nail envelopes therefore could provide a useful diagnostic tool in distinguishing LI from other ichthyoses with overlapping clinical features. [source] Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythrodermaBRITISH JOURNAL OF DERMATOLOGY, Issue 3 2001E. Virolainen Congenital ichthyoses are a group of heterogeneous disorders of cornification. Autosomal recessive congenital ichthyosis (ARCI) can be clinically subdivided into congenital ichthyosiform erythroderma and lamellar ichthyosis. Ultrastructurally, ARCI is classified into four groups: ichthyosis congenita (IC) types I,IV. The genetic background of the ARCI disorders is heterogeneous, but only one disease gene, transglutaminase 1, has been detected so far. We describe six patients with severe congenital ichthyosis from six different Scandinavian families. They could not be classified ultrastructurally into the four IC groups because of atypical findings of electron microscopy. These included abnormal lamellar bodies, alterations in keratohyalin, remnant organelles and lipid inclusions in the upper epidermal cells, which resembled the ultrastructural findings of harlequin ichthyosis (HI), although the HI phenotype was not present at birth. Some clinical features, such as thick scales, erythroderma, alopecia and ectropion were common to all patients. Ichthyosis was usually accentuated in the scalp and four patients had clumped fingers and toes. None of the patients carried the transglutaminase 1 mutation. We conclude that ultrastructural findings resembling those detected in previous HI cases (type 1 and 2) can also be found in patients who do not have classic clinical features of that rare ichthyosis. This may be due to lack of specificity of ultrastructural markers for HI or to its clinical heterogeneity. [source] Liver cirrhosis in an infant with Chanarin,Dorfman syndrome caused by a novel splice-site mutation in ABHD5ACTA PAEDIATRICA, Issue 10 2010M Cakir Abstract We described a Turkish girl with Chanarin,Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin,Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin,Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease. Conclusion:, Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin,Dorfman syndrome. [source] Erythema gyratum repens and acquired ichthyosis associated with transitional cell carcinoma of the kidneyCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 6 2001M. Ameen Both erythema gyratum repens (EGR) and acquired ichthyosis are distinctive dermatoses which have strong associations with internal malignancy. EGR usually precedes the diagnosis of malignancy whereas acquired ichthyosis commonly manifests after the detection of malignancy. We report a patient who initially presented with a figurate eruption of EGR which later developed into a widespread ichthyosis with disappearance of the serpiginous rash. Further investigations revealed an underlying transitional cell carcinoma of the kidney, an association which has not previously been reported with either EGR or acquired ichthyosis. The occurrence of two paraneoplastic skin disorders in the same patient may be explained by tumour cell secretion of transforming growth factor alpha, which has been shown to be mitogenic for keratinocytes. [source] | |||||||||||||