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PubMed2006

Harlequin ichthyosis--difficulties in prenatal diagnosis.

Ichthyoses belong to the group of genodermatoses, characterized by hyperkeratosis and desquamation of the epidermis. Clinical manifestation is heterogeneous and depends on the type of the disease. Harlequin foetus is the most severe form of congenital ichtyosis, inherited as an autosomal recessive trait. The disfunction of the epidermis begins prenatally. Neonates are often born prematurely, in severe condition. At present better care and treatment prolong the length and quality of children's life. We report a case of harlequin ichthyosis. Parents were healthy and there was no history of ichthyosis or other congenital anomalies in the family. Sonography at the 26th week of gestation revealed anomalies of the fetal face; however, the diagnosis of harlequin ichthyosis was not established prenatally. The male child was born alive at the 37th week of the third pregnancy, with birth weight of 2900 g. Typical features of harlequin ichthyosis were present at birth. Intensive neonatological care was necessary. The child survived and at the time of the report was 6 months old and in good condition.

Female↗
PubMed1995

[Acquired ichthyosis-like skin disease. A challenge for diagnostic evaluation].

We report on four patients with acquired ichthyosis-like skin lesions seen in our out-patients' clinic in the last 6 years. Emphasis is placed on the case of a 25-year-old patient who suffered from mycosis fungoides with the clinical features of an acquired ichthyosis-like condition. Three further observations illustrate the broad clinical spectrum of acquired ichthyosis-like dermatoses. In these patients renal insufficiency, HIV infection or an extreme diet were the cause of the skin lesions. Our observations emphasise that an acquired ichthyosis-like condition should be regarded as a challenge to make a definite diagnosis. Guidelines for a step-by-step diagnostic procedure are proposed.

Adult↗
PubMed1998

Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.

Autosomal recessive lamellar ichthyosis is a clinically heterogeneous group of severe congenital keratinization disorders that is characterized by generalized hyperkeratosis and variable erythema. About half of the patients have mutations in the TGM1 gene, which encodes the keratinocyte transglutaminase. Linkage studies have shown that at least two further loci for autosomal recessive lamellar ichthyosis must exist. We present here two patients with lamellar ichthyosis caused by mutations in the TGM1 gene. The first patient is compound heterozygous for the novel missense mutation C53S and the splice mutation A3447G. The second patient, a child of consanguineous parents from Tunisia, is homozygous for the unknown nonsense mutation W263X. This is the first report of a mutation, C53S, that affects the region of the keratinocyte transglutaminase that is essential for anchorage of the enzyme to the plasma membrane. A novel, rapid in situ transglutaminase activity assay revealed the absence of keratinocyte transglutaminase activity in both patients. The mutations described are hence causative for the ichthyosis phenotype.

Adolescent↗
PubMed1999

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited disorders of cornification in which progress has recently been made in the identification of pathogenic mechanisms causing the disease. Transglutaminase 1 (TGM1) has been found as a defective gene in a large fraction of patients with lamellar ichthyosis (LI), a severe inherited scaling disorder of the skin. We have previously performed molecular genetic studies of 38Finnish ARCI families and found six different mutations in 13 families of 38 (34%). In this study we compared the molecular genetic alterations with clinical and electron microscopic findings of these patients. Families were classified by electron microscopy in ichthyosis congenita (IC) types I, II, III, IV and a non-defined group. TGM 1 gene mutation was found in all of the IC type II and 1/3 of the IC type 1 families. Although electron microscopy is not always used to classify ARCI patients, it can distinguish groups which are parallel with molecular genetic findings. This finding might be useful in the classification of ARCI patients for further linkage studies. Clinically typical phenotype of the TGM1 mutation carrier includes large, thick, brownish scales, but ichthyosis of some of these patients tends to be milder.

Adolescent↗
PubMed2001

Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.

Lamellar ichthyosis, one form of congenital autosomal recessive ichthyosis, is caused by mutations in the gene (TGM1) encoding the transglutaminase 1 enzyme. Mutations, deletions, or insertion of TGM1 have been reported so far. Here we report that three novel mutations of TGM1, D101V, N288T, and R306W, cause lamellar ichthyosis in two different families. The patient in family LI-KD has N288T and R306W mutations, and the patient in family LI-LK has D101V and R306W mutations. The activity of the transglutaminase 1 enzyme of the patient in family LI-LK was only about 15% of normal. Also, three-dimensional structural prediction analyses revealed that the N288T and R306W mutations, and possibly the D101V mutation, cause misfolding in the central catalytic core domain of the transglutaminase 1 enzyme that would probably result in reduced enzyme activity. Our data suggest that the greatly reduced transglutaminase 1 activities are due to disruptions of the native folding of transglutaminase 1, and that these mutations may play a critical role in the pathology of lamellar ichthyosis.

Amino Acid Substitution↗
PubMed2003

Quality of life in adults with congenital ichthyosis.

BACKGROUND: Little is known about the quality of life of people with congenital and generalized skin diseases. Describing life history and quality of life from an individual perspective could increase understanding of living with generalized congenital ichthyosis for nursing staff and others. AIM: The aim of our study was to illustrate how middle-aged and older people with lamellar ichthyosis or epidermolytic hyperkeratosis describe the effects of their disease on their quality of life. METHODS: Six women and four men aged 56-80 years participated. A global clinical assessment of the severity of the disease was performed. The Nottingham Health Profile (NHP) questionnaire was used to investigate quality of life. Participants were interviewed face-to-face about childhood and adulthood experiences of living with a skin disease. Interview data were analysed using content analysis. RESULTS: Interview data were assigned to two categories, childhood and adulthood, and organized under 16 themes. All interviewees reported that their skin disease had affected them negatively to varying degrees during their entire lives, and that the most problematic period was childhood. Coping strategies used during childhood were hiding of the skin and developing shyness. There were no correlations between objective signs of ichthyosis and the NHP scores. CONCLUSIONS: Congenital ichthyosis appears to affect several aspects of life negatively, and it is hoped that an understanding of the effects of the disease will lead to more efficient nursing care.

Adaptation, Psychological↗
PubMed2002

Mild ichthyosis in a 4-year-old boy with multiple sulphatase deficiency.

We report a 4-year-old boy with multiple sulphatase deficiency (MSD). His early health was good. By the end of his first year there were concerns about developmental delay but by 26 months he showed clear evidence of regression in that he was barely able to sit unsupported and had lost all fine motor and communication skills. At that time he also had widespread mild ichthyosis that cleared completely with the use of emollients. The neurological deterioration suggested a diagnosis of metachromatic leucodystrophy, and a reduction in the leucocyte arylsulphatase A activity was detected. The ichthyosis suggested steroid sulphatase deficiency, and a reduction in the leucocyte steroid sulphatase activity was detected. The enzyme deficiency was much less marked for steroid sulphatase than for arylsulphatase A in this boy. This diversity in enzyme activities is typical of MSD and correlates with the mild ichthyosis in this child. This case shows that even mild ichthyosis should prompt measurement of steroid sulphatase activity in a child of either sex with unexplained neurological deterioration.

Child, Preschool↗
PubMed2003

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.

A new variant of congenital exfoliative ichthyosis in two related Bedouin families is reported. The ichthyosis appeared shortly after birth as a fine peeling of nonerythematous skin on the palms and soles. The prominent well-demarcated areas of denuded skin in moist and traumatized regions resembled the 'mauserung' phenomenon of ichthyosis bullosa of Siemens (IBS). Unlike in IBS, epidermolysis is absent on histological examination. Electron microscopy revealed a prominent intercellular oedema and numerous aggregates of keratin filaments in basal keratinocytes. Abnormal keratin (K) 1 expression was seen in the affected epidermis; however, all other keratins, including K2e, had a distribution comparable to that seen in normal controls. A maximum two-point LOD score of 2.53 and multipoint LOD score of 3.76 were obtained for marker D12S390, suggesting linkage to the type II keratin cluster on chromosome 12q13. Sequencing of both the K1 gene, the promotor and the 3' calcium regulatory region did not reveal a mutation. K2e and K5 genes, as well as the genes harboured within the minimal region, such as retinoic acid receptor gamma, sterol O-acyltransferase 2, integrin beta7 and insulin-like growth factor binding protein-6, were also excluded. This combination of clinical, histological, ultrastructural and genetic features has not been previously reported in other congenital exfoliative ichthyoses. We therefore suggest that it represents a new form of exfoliative ichthyosis.

Adolescent↗
PubMed2001

Erythema gyratum repens and acquired ichthyosis associated with transitional cell carcinoma of the kidney.

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.

Aged↗
PubMed2003

The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.

Until about 20 years ago, the term lamellar ichthyosis (LI) represented all nonbullous autosomal recessive ichthyoses except for harlequin ichthyosis and ichthyosis syndromes. Since the 1980s, nonbullous autosomal recessive ichthyoses have been divided into two major clinical entities, nonbullous congenital ichthyosiform erythroderma (NBCIE) and LI. The nature of scaling and intensity of erythroderma are important clinical features that distinguish between NBCIE and LI. However, a considerable number of cases show an intermediate phenotype between the two classic clinical features. Histologically, parakeratosis and inflammatory cell infiltration are seen more frequently in NBCIE than in LI and the stratum corneum is usually thicker in LI than in NBCIE. However, neither histopathological findings nor ultrastructural features seem to help clearly distinguish between NBCIE and LI. Mutations in any of the three known causative genes, TGM1, ALOXE3 or ALOX12B, can lead either to NBCIE or LI. Candidate genes specific to either NBCIE or LI alone have not been identified. Based on these facts, it might be better to consider NBCIE and LI as variations of a single keratinization disorder, although the classification of these autosomal recessive congenital ichthyosis patients into NBCIE or LI depending on their clinical features is still useful for practical patient management.

Diagnosis, Differential↗
PubMed1998

Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.

Lamellar ichthyosis is a severe, generalized, autosomal recessive genodermatosis characterized clinically by large, parchment-like scales and histologically by acanthosis and marked hyperkeratosis. Genetic heterogeneity in lamellar ichthyosis has been recognized with reports of two linked loci (on chromosomes 14q11 and 2q33-35). In a cohort of four small families with lamellar ichthyosis we found confirmatory evidence for linkage (p < or = 0.01) to D14S275, a microsatellite marker close to transglutaminase 1 on chromosome 14q11. We also identified two novel transglutaminase 1 mutations in an affected sibling pair from one of these families. The paternal mutation in exon 3, 1387insCAGC, causes a frameshift predicted to result in premature termination of translation within the same exon. The maternal mutation in exon 8, 4561delAC, also causes a frameshift and a premature stop codon in this exon. The mother of these siblings recently became pregnant with twins. Genotyping and direct sequencing of DNA isolated from fetal amniotic fluid cultures revealed the presence of the paternal but the absence of the maternal mutation, thus predicting a normal skin phenotype. Both twins were born with normal-appearing skin. Our findings demonstrate that mutations of both alleles of the transglutaminase 1 gene are the cause of lamellar ichthyosis in this family, and illustrate an emerging clinical application of molecular genetics in dermatology.

Base Sequence↗
PubMed2000

Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes.

X-linked ichthyosis is caused by steroid sulfatase deficiency which results from abnormalities in its coding gene. The majority of X-linked ichthyosis patients ( approximately 90%) have complete or partial deletions of the steroid sulfatase gene. In this study, we examined the mutations of the steroid sulfatase gene in two unrelated X-linked ichthyosis patients without complete deletion of the gene. Polymerase chain reaction-single-strand conformation polymorphism and direct sequencing analyses showed that each patient has a different single base pair substitution within exon 8 encoding the C-terminal half of the steroid sulfatase polypeptide. Both mutations resulted in the transversion of functional amino acids: a G-->C substitution at nucleotide 1344, causing a predicted change of a glycine to an arginine, and a C-->T substitution at nucleotide 1371, causing a change from a glutamine to a stop codon. In vitro steroid sulfatase cDNA expression using site-directed mutagenesis revealed that these mutations are in fact pathogenic and reflect the levels of steroid sulfatase enzyme activities in each of the X-linked ichthyosis patients.

Adult↗
PubMed2000

Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis.

X-linked ichthyosis is an inherited disease due to steroid sulfatase deficiency. Onset is at birth or early after birth with dark, regular, and adherent scales of skin. Approximately 85%-90% of X-linked ichthyosis patients have large deletions of the STS gene and flanking sequences. Three patients have been identified with partial deletions of the gene. Two deletions have been found at the 3' extreme and the other one implicating exons 2-5. This study describes a novel partial deletion of the STS gene in an X-linked ichthyosis patient. The subject was classified through steroid sulfatase assay in leukocytes using 7-[3H]-dehydroepiandrosterone sulfate as a substrate. Exons 1, 2, 5, and 7-10, and 3' flanking sequences DXS1131, DXS1133, DXS237, DXS1132, DXF22S1, and DXS278 of the STS gene were analyzed through polymerase chain reaction. The DNA analysis showed that exon 1 and 3' flanking sequences from DXS237 to DXS278 were present. In this study we report the fourth partial deletion of the STS gene and the first spanning exons 2-10 in X-linked ichthyosis patients.

Adolescent↗
PubMed2003

The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis.

Cystatin M/E is a recently discovered cysteine proteinase inhibitor whose expression is largely confined to cutaneous epithelia. In human skin it is expressed in sweat glands, hair follicles, and stratum granulosum of the epidermis where it presumably acts as a substrate for transglutaminase. Very recently we reported that a null mutation in the mouse cystatin M/E gene (Cst6) causes the murine ichq phenotype, which is characterized by abnormalities in cornification and desquamation, demonstrating an essential role for cystatin M/E in the final stages of epidermal differentiation. We here obtained the complete sequence of the human cystatin M/E gene (CST6), which provides a tool to investigate CST6 as a candidate gene in skin diseases characterized by abnormal cornification. The involvement of CST6 in harlequin ichthyosis in humans was evaluated by sequencing the entire coding region and intron-exon boundaries for mutations in 11 sporadic harlequin ichthyosis patients. No CST6 mutations were detected in this group, which comprised type 1 and type 2 harlequin ichthyosis patients. Disturbed transcription/translation due to mutations in regulatory and noncoding regions of cystatin M/E was unlikely because cystatin M/E protein expression was observed in all patients examined, as assessed by immunohistochemistry. Although our results indicate that CST6 is not a major gene contributing to type 1 and 2 harlequin ichthyosis, these data may facilitate further analysis of the role of cystatin M/E in normal human skin and other genetic disorders of cornification.

Animals↗
PubMedDate not supplied

KID syndrome associated with features of ichthyosis hystrix.

Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder causing erythrokeratoderma, vascularizing keratitis, and neurosensory deafness. Ichthyosis hystrix is a rare cutaneous disease characterized by well-demarcated, spiky, verrucous, linear plaques that is believed to be a clinical and pathologic chimera of two autosomal dominant diseases: epidermal nevus and epidermolytic hyperkeratosis. We present a patient with the classic triad of KID syndrome with clinical and histologic features of ichthyosis hystrix. This case demonstrates that KID syndrome comprises a spectrum of ectodermal disorders which may include diseases such as hystrix ichthyosis and deafness (HID) syndrome.

Argentina↗
PubMed1995

Harlequin ichthyosis--a case report.

The Harlequin infant represents the most severe form of nonbullous ichthyosis. Although the clinical features of infants with Harlequin ichthyosis are generally similar, histological, ultrastructural, and biochemical analyses have not shown consistent findings. An unexpected case of Harlequin ichthyosis in a female infant born at 35 wks gestation is presented. Light microscopic and ultrastructural investigations of skin biopsies are detailed. The presence of extracellular lipid material in the stratum corneum has not been described in the previously reported cases of Harlequin ichthyosis.

Fatal Outcome↗
PubMed2003

A patient with congenital ichthyosis hystrix (disseminated congenital naevus) and acute lymphoblastic leukaemia.

Congenital ichthyosis is an uncommon spectrum of hereditary and sporadic hyperkeratotic epidermolytic disorders that may occur in isolation or in association with other clinical syndromes. The pattern of distribution of the hyperkeratotic lesions and family history form the basis of diagnosis. Ichthyosis may be a marker for immune deficiency and cancer prone conditions. We report a 16-year old Chinese patient with a diagnosis of ichthyosis hystrix hystrix (disseminated congenital naevus) since birth who presented with T cell acute lymphoblastic leukaemia with tetraploid clones. There are four reports of acute leukaemia complicating ichthyosis, all involving paediatric acute lymphoblastic leukaemia. The possible mechanisms involved are discussed.

Adolescent↗
PubMed1989

Ichthyosis with laminated membrane structures.

Clinical, light-microscopic, and electron-microscopic features of a new type of ichthyosis are presented. The ichthyotic disease of a 75-year-old woman appeared in early childhood as dry and scaly skin. It slowly progressed to thickened and folded hyperkeratosis on her neck and axillae. The skin on the other parts of her body was shiny, red and hard. Her physical development was normal. Light microscopy showed acanthosis and papillomatosis with hyperkeratosis. The granular cells were vacuolated. Electron microscopy revealed diagnostic changes, i.e., concentric or parallel lamellar membrane structures and amorphous material in upper epidermal cells. Corresponding lamellar material was also seen in the cornified cells. The keratinosomes were abnormal and a hypothesis is presented indicating that a defect in keratinosome formation results in vacuolization and abnormal desquamation in this disease. According to the current classification, the present type of ichthyosis is one subgroup of lamellar ichthyosis. We have called it ichthyosis with laminated membrane structures, because they are electron-microscopically diagnostic. The mode of inheritance is unknown.

Aged↗