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Authors have performed the main types of the ichthyosis, the emphasis has been placed on Lamellar Ichthyosis, because the case of this rare disease occurred in a hospital in Pleszew. The paper contains the case report and detailed description of Lamellar Ichthyosis: clinical signs, prenatal diagnosis and treatment.
BACKGROUND: Since 1988, three nonrelated fatal cases of congenital ichthyosis associated with Gaucher disease have been described in Australia. CASE: We present a case of Gaucher disease with congenital ichthyosis and restrictive dermopathy and describe the associated prenatal sonographic findings and pathology of this new syndrome. CONCLUSION: The unusual association of congenital ichthyosis with lipid storage disease may be suspected prenatally. A high index of suspicion may prove this condition to be more common than previously thought.
In individuals free from skin diseases, the resistance and the neutralisation to alkali, and the quantity of lipids at the surface of the skin, are constitltional factors; these idiotypically (genetically) controlled factors are subject to paratypical (environmental) variations. The frequency of a reduced alkali neutralisation and of sebostasis in case of neurodermitis atopica and of ichthyosis vulgaris is not dealt with in the literature, but it results from literature findings that a pathologic alkali resistance is a facultative feature in neurodermitis atopica, while it is an obligatory one in ichthyosis vulgaris. The difference seems to be conditioned genetically. In neurodermitis atopica, the genotype is in itself of no pathogenic importance since the disease is induced exclusively by exogenous and endogenous, non hereditary agents. In ichthyosis vulgaris, the reduced alkali resistance falls into the pleiotropic character of the disease.
The wide phenotypical heterogeneity within the ichthyosis congenita group of diseases is well known. We report a case of a very rare and unusual autosomal recessive ichthyosis congenita, type IV, according to the ultrastructural classification. Our case presented the triad clue for the diagnosis, characterized by follicular hyperkeratosis, prematurity and perinatal complications, but the clinical diagnosis was further complicated by hypereosinophilia and a strongly positive Darier's sign suggesting diffuse cutaneous mastocytosis. The diagnosis was provided only by electron microscopy, which showed the pathognomonic markers of ichthyosis congenita type IV, namely a large number of membrane structures in the stratum corneum and stratum granulosum. As a consequence, correct genetic counselling for the parents was carried out, and they were informed about the benign course of the disease after the complications of the perinatal period. This case is a further example of the reliability of ultrastructural markers in the diagnosis of inherited keratinization disorders, especially those with an unusual clinical appearance.
A 30-year-old white woman developed bullous and ichthyosiform skin lesions at the age of 8 months. Blistering ceased at puberty, but the hyperkeratotic plaques persisted. She subsequently delivered five children, two of whom were affected with a bullous type of ichthyosis. At the age of 27 years, she developed numerous annular and polycyclic, erythematous, hyperkeratotic plaques on the trunk and extremities that were pruritic, enlarged slowly, and then resolved. Histopathologic examination of these annular plaques revealed epidermolytic hyperkeratosis. Electron microscopic examination of the annular plaques showed interrupted perinuclear tonofilament rings consistent with either bullous ichthyotic erythroderma of Brocq or ichthyosis bullosa of Siemens. This kindred may represent a new phenotype of epidermolytic (acanthokeratolytic) ichthyosis.
Ichthyosis is a cutaneous keratinization disorder that can either be congenital or acquired. Acquired ichthyosis has been reported in association with a variety of neoplastic, autoimmune, and infectious diseases. We report the case of a 68-year-old woman who presented with generalized ichthyosis as the first manifestation of myelodysplastic syndrome. This is the first fully described case of such an association in the English literature.
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.
Although loricrin is the predominant protein of the cornified envelope (CE) in keratinocytes, loss or gain of loricrin function in mouse models produces only modest skin phenotypes. In contrast, insertional mutations resulting in a frameshift in the C-terminal domain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man. To ascertain the basis for the loricrin keratoderma phenotype, we assessed epidermal structure and stratum corneum (SC) function in a previously genotyped human loricrin keratoderma kindred. Our studies revealed abnormal corneocyte fragility and basal permeability barrier function, but accelerated repair kinetics. Despite fragility, increased water loss occurred predominantly via extracellular domains, which correlated with disorganized lamellar bilayers that were linked spatially to discontinuities of the CE. Accelerated barrier recovery was explicable by amplified lamellar body secretion, while partial normalization of the CE in the outer SC correlated with persistence of abundant calcium in the extracellular spaces (positioned to activate transglutaminase-1). These results show that the barrier abnormality in loricrin keratoderma is linked to a defective CE scaffold, resulting in increased extracellular permeability, as shown previously for another "scaffold disorder", lamellar ichthyosis. But in contrast to lamellar ichthyosis, the CE scaffold partially normalizes in the outer SC in loricrin keratoderma.
We describe the third case of congenital reticular ichthyosiform erythroderma (CRIE), a rare inherited keratinization disorder, the second with the peculiar reticulate skin pattern. The same case had been previously described and defined, for the clinical appearance, as ichthyosis 'en confettis'. An 18-year-old girl was born with the clinical features of an erythrodermic lamellar ichthyosis. Patches of normal skin enclosed by erythematous-ichthyotic skin in a reticular arrangement appeared on the trunk at the age of 10 years, and they enlarged slowly during 6 years. The treatment with etretinate, started 2 years ago, further increased this process. Another peculiar clinical feature is a remarkable hypertrichosis. At the ultrastructural level, perinuclear deposits of filamentous material in vacuolized keratinocytes of the upper epidermis, pathognomonic for CRIE, were demonstrated. This suggests that CRIE and ichthyosis 'en confettis' are the same disorder. In addition the peculiar clinical presentation of this rare genodermatosis develops only during late childhood and puberty. The identification of three sporadic cases only leaves the problem of inheritance still unsolved.
Different manifestations on some ocular and adnexal structures may accompany ichthyosis. Some ophthalmological manifestations in the clinical course of ichthyosis may endanger the eye and even lead to the sight loss. The paper reports a case of a patient with congenital ichthyosiform erythrodermia and ophthalmological manifestations on the lids and cornea. In addition to ichthyosis of the lid skin, squamous blepharitis and cicatricial ectropium of the lower lids were also present, while signs of exposure keratitis on the right eye and corneal leucostaphyloma on the left eye were also noted. Presence of lagophthalmos and permanent exposure of both eyeballs led to deterioration of the condition which may result in the sight loss on the right eye, as well. Therefore, contracture release of both lower lids was performed followed by full-thickness skin graft. Surgical procedure and the postoperative course were uneventful. The operation successfully corrected position of the lower lids and enabled formation and reestablishment of the precorneal tears film which led to improvement of the condition of the cornea. The effect has been maintained for six postoperative years now.
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males so far. We report on a man with congenital ichthyosis and alopecia with apparently normal development in early infancy. Photophobia and generalized myoclonicastatic seizures began during or after the first year of age and were associated with progressive impairment of motor skills and mental abilities. He died at 33 years of age. Neuropathological findings showed an unusual deformation of the temporal lobes and olivocerebellar atrophy. Cytogenetic and molecular studies did not uncover deletions in either Xp22.2 to 3 or in Xq27.3 to qter.
We describe 2 sibs who presented with ichthyotic skin at birth and subsequently developed neurologic manifestations of type 2 Gaucher disease. Type 2 Gaucher patients with and without ichthyosis manifest ultrastructural and biochemical abnormalities in the epidermis. The 2 patients described here clearly demonstrate that epidermal involvement in type 2 Gaucher disease may precede neurologic symptoms and substantiate the prognostic significance of early skin abnormalities in Gaucher patients. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis, even if the scaling resolves spontaneously.
A high frequency rate of hereditary ichthyosis (141.89 per 1000) was detected in a 1029 member South Indian study population selected at random from the skin outpatients of a teaching hospital. An age and sex matched control population screened from the medical and pediatric outpatients of the same institute recorded the incidence of ichthyosis vulgaris as 150 per 1000 population which is even higher.
Standardized stereological methods were performed on biopsies from three subjects with normal skin and from three patients with autosomal dominant and three with autosomal recessive sex-linked ichthyosis to determine the relative numbers and dimensions of desmosomes. The results showed an increase in the persistence of desmosomes in the stratum corneum in both ichthyotic groups. This suggests a pathogenetic role for desmosomes in the abnormal desquamation of the two types of ichthyosis vulgaris.
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.
We have studied the steroid sulfatase (STS) gene in three Japanese families with X-linked ichthyosis (XLI), using polymerase chain reaction (PCR). PCR was performed using three sets of intraexonic primers covering exons 1, 5 and 10. In affected individuals from two of the families, DNA was not amplified in any of the three exons, suggesting that XLI in these families was due to the complete deletion of the STS gene. In affected individuals in the remaining family, DNA was amplified in predicted sizes in exons 1 and 5, but not in exon 10, suggesting that XLI in this family was due to partial deletion of the STS gene including exon 10. These results suggested that STS gene deficiency is heterogeneous in Japanese families with XLI. PCR is useful for the rapid diagnosis of XLI, the differentiation of XLI from ichthyosis vulgaris, and genetic counseling of XLI families. The PCR method was not applicable for carrier detection.
OBJECTIVES: To review recent advances in our understanding of the genetic pathomechanisms of harlequin ichthyosis (HI) (the most devastating subtype of congenital ichthyoses) and its prenatal diagnosis and to discuss the possibility of future gene therapy. DATA SOURCE: PubMed search for articles about HI, its causative protein adenosine triphosphate-binding cassette A12 (ABCA12), and related molecules. STUDY SELECTION: English-language studies were selected if they provided useful information about the pathomechanisms of HI and ABCA lipid transporters. DATA SYNTHESIS: This article describes ABCA12 as a causative molecule involved in defects in HI, summarizes the known genetic disorders caused by genetic defects in ABCA lipid transporters, and highlights the prospects of prenatal diagnosis and gene therapy for HI. CONCLUSIONS: Harlequin ichthyosis is caused by a serious functional deficiency of ABCA12. ABCA12 and ABCA3 are essential lipid transporters for human adaptation to a dry terrestrial environment. In clinical practice, information regarding the genetic defects and pathomechanisms underlying HI is important for precise diagnosis, genetic counseling, and prenatal diagnosis.
Ichthyosiform erythroderma is a rare phenomenon occurring in about 1/300,000 live births. Congenital unilateral ichthyosis, described in this case report, is a clinical variant of ichthyosis. Only five previous cases have been reported. In the patient described in this report, superimposed infection of the affected skin developed. Her immunologic system was intact. She manifested failure to thrive, in spite of an adequate caloric intake, and markedly delayed psychomotor development. This patient also demonstrated absorption from the affected dermis of topically applied urea hydrophilic base ointment. She died before her first birthday.