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A 24-year-old man with Down syndrome presented with prominent ichthyosiform skin on his extremities and psoriatic plaques on his chest, back and scalp. The late onset of his ichthyosis without family history suggested that it was not a heritable form but was associated Down syndrome. Such an association with ichthyosis and psoriasis has not been described previously.
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.
The effect of urea-lactic acid ointment on the scales of ichthyotic skin was assessed using the 'cell swelling' technique of Christophers & Kligman. The thickness of the horny layer and of the scales was reduced both by the ointment and by the base. The formation of scales was shown to differ from that in psoriasis where the scale forms at the apex of th a rete peg and is symmetrical whereas in ichthyosis the separation of the scale may be at an entirely different depth at one margin. There is an increase in the number of 'T' cells in X-linked recessive ichthyosis.
The in vitro incorporation of 14C acetate by the epidermis has been studied in patients with autosomal dominant ichthyosis and in patients with a dry, itchy, slightly scaly skin associated with a disorder of the small bowel. Analysis of 14C acetate containing lipid moieties by thin layer chromatography has indicated that there are both quantitative and qualitative differences in the uptake of 14C acetate between autosomal dominant ichthyosis and normal. In particular an increased incorporation into the triglyceride and phosphatidyl choline fractions was noted. No such differences were apparent in those patients with disorders of the small bowel. In addition the in vitro incorporation of radioactively labelled thymidine, proline and histidine has been studied in these patients. In both groups of patients the rate of incorporation of tritiated thymidine and histidine into epidermal macromolecules was found not to differ significantly from normal. On the other hand the rate of incorporation of tritiated proline was increased in both groups of patients.
After the application under occlusion of partially purified stratum corneum steroid sulphatase to the skin of patients with X-linked ichthyosis, the detachment ratio of stratum corneum fragments was significantly increased. There was no significant change in normal subjects or in patients with ichthyosis vulgaris.
We carried out ophthalmological examinations, and histopathological examinations of skin biopsies in 32 male patients affected by X-linked ichthyosis. We found corneal opacities in only five patients, and their presence was not related to the age of the patients. Skin histology revealed a reduction of the granular layer in nine cases, a finding previously thought to be typical of autosomal dominant ichthyosis vulgaris.
X-linked recessive ichthyosis (XLI) is caused by a deletion, or mutation, of the steroid sulphatase gene on the distal short arm of the X chromosome (Xp22.3). This region of the X chromosome is particularly susceptible to deletions. Such deletions can occasionally extend to involve neighbouring genes, causing a contiguous gene defect. Therefore, XLI may be associated with Kallmann's syndrome (KS), mental retardation, X-linked recessive chondrodysplasia punctata and short stature. We have reviewed 33 patients with XLI. Nine showed evidence of contiguous gene defects. A further four had neurological deficit sustained at the time of birth. This study highlights the importance of screening patients with X-linked recessive ichthyosis for neighbouring genetic disorders and, in particular, the early identification of KS, as delay in diagnosis may lead to infertility and osteoporosis. Parents should be warned about possible obstetric complications due to prolonged labour in future pregnancies.
Ichthyosis bullosa of Siemens (IBS, MIM 146800) is a unique congenital ichthyosis characterized by mild epidermal hyperkeratosis over flexural areas, blister formation and the development of superficially denuded areas of hyperkeratotic skin. It is clinically difficult to distinguish severe IBS from mild bullous congenital ichthyosiform erythroderma (BCIE, MIM 113800). In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994. We studied four patients from three Japanese IBS families. They had previously been misdiagnosed as having BCIE before the correct diagnosis was made after mutation detection. To detect the pathogenic mutations, we performed direct sequencing of the entire coding regions of KRT2E encoding K2e in the patients and healthy family members. K2e mutations, a 1469T-->C transition (L490P) and a 1477G-->A transition (E493K) within the conserved 2B helix termination motif of the rod domain were detected in the families and the definite diagnosis of IBS was made in the four cases. The present results indicate that IBS is not such a rare entity as was previously thought, and accurate diagnosis is now available by mutation analysis.
A patient is described with features of both bullous ichthyosiform erythroderma (BIE) and ichthyosis bullosa--a separate entity first described in 1937 by Siemens. This combination of characteristics has not been previously reported. Bullous ichthyosiform erythroderma and ichthyosis bullosa of Siemens, occurring together in this patient may best be regarded as varying expressions of a single genodermatosis.
Ichthyosis hystrix is a rare genodermatosis characterized by persistent spiny scales which cover a significant part of the skin surface. In many cases it is associated with palmoplantar keratoderma, and occasionally deafness and neurological defects coexist. The case of a man with ichthyosis hystrix is reported who developed skin malignancy and dysplastic keratoses, a complication which has not previously been recorded.
The present work compared the clinical efficacy of topically applied 1 alpha,25-dihydroxyvitamin D3 (1 alpha,25-(OH)2D3) in 16 cases with psoriasis vulgaris, 5 with ichthyosis vulgaris and 8 with X-linked ichthyosis. Sixty-nine percent of the psoriatic cases responded to 1 alpha,25-(OH)2D3 therapy, whereas no ichthyotic patients responded. The present study confirms the previously suggested effectiveness of the active form of vitamin D3 for psoriasis and denies its possible efficiency against the ichthyoses. Direct suppression of hyperproliferative activity of the psoriatic epidermis is considered one of the most plausible mechanisms of 1 alpha,25-(OH)2D3 efficacy, through examination of the aforementioned evidence.
A new congenital ichthyotic syndrome inherited as an autosomal recessive is described in three propositi of an Iranian family. The main clinical features are non-bullous congenital ichthyosis, mental retardation, dwarfism, and renal impairment. The nephropathy which previously has not been associated with congenital ichthyosis was manifested by raised blood urea nitrogen and creatinine levels, and a reduced creatinine clearance. The clinical and genetic features of this syndrome are discussed in relationship to the other congenital ichthyotic syndromes.
Two brothers showed ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation. In addition, the younger brother had short stature associated with disorders of secretions of insulin, ACTH and GH. This is the third reported case of the syndrome of ichthyosis and hypogonadism.
We report the successful prenatal diagnosis of ichthyosis in the fetus of a woman whose previous liveborn child was affected with "harlequin ichthyosis". The fetal diagnosis was established through analysis of ultrasonographically guided fetoscopic skin biopsies. These biopsies showed premature hyperkeratosis, most marked around hair follicles and sweat ducts, and forming plugs of hyperkeratotic debris. These observations were in distinct contrast to those in control fetuses, whose epidermis consists of squamous epithelium only a few cells in depth with minimal keratinization.
A 14-year-old boy is described with hypogonadism, ichthyosis and mental retardation. His karyotype was 46,Y, der(X),t(X;)(p22;q11). His mother's karyotype was 46,X,der(X),t(X;Y)(p22;q11). Thus the son is nullisomic for the region Xp22 leads to pter and the mother is monosomic for the same region. The steroid sulfatase activity in this boy is discussed in relationship to the enzyme's locus on the X chromosome and the manifestation of ichthyosis.
A family presenting with ichthyosis vulgaris, prominent full cheeks, sparse lateral eyebrows and other craniofacial and musculoskeletal defects is described in detail. This constellation of physical findings represents a new syndrome, transmitted in an autosomal dominant fashion. For reasons of simplicity it has been termed the I (ichthyosis), C (cheek), E (eyebrow) syndrome.
Autosomal dominant lamellar ichthyosis (ADLI) is a recently recognized genetic skin disorder. Clinically and histologically, it cannot be distinguished with certainty from the more frequent autosomal recessive lamellar ichthyosis (ARLI), which in itself may still be heterogeneous. By ultrastructural examination of ADLI a prominent transforming zone between the stratum granulosum and stratum corneum and lipid inclusions in the stratum corneum have been observed. Using sequential high-performance thin-layer chromatography, we studied the plantar scale lipid pattern of two patients, mother and daughter, affected with ADLI. We found a distinctive alteration in the relative composition of the scale lipid pattern characterized by excessive amounts of free fatty acids, triglycerides, elevated n-alkanes, reduced free sterols and decreased total ceramides. This scale lipid profile clearly differs from that of the erythrodermic and non-erythematous variants of ARLI and confirms that this disorder is a distinct entity of the heterogeneous group of lamellar ichthyoses.
Contiguous gene syndromes are an interesting clinical phenomenon, resulting from interstitial or terminal deletions of several adjacent genes. The phenotype results in a combination of two or more monogenic disorders and relates clinical findings to corresponding genotypes. We present the case of a male patient with Kallmann syndrome (KS), X-linked ichthyosis (XLI) and X-linked mental retardation (MRX). He was referred at the age of 15.4 years for delayed puberty and obesity. He had a previous history of pyloric stenosis, bilateral orchidopexy and surgical correction of a pes equinovarus adductus. On physical examination, generalised ichthyosis and hypoplastic external genitalia were found. KS was evident with hypogonadotropic hypogonadism, hyposmia and a hypoplastic anlage of the olfactory tract in magnetic resonance imaging. Lipoprotein electrophoresis, and lack of steroid sulfatase and arylsulfatase-C activity in leucocytes confirmed XLI. DNA investigation established an interstitial deletion in Xp22.3 involving the Kallmann (KAL) gene, the steroid sulfatase (STS) gene and a putative mental retardation locus (MRX). The novel MRX locus maps to a 1-Mb region between DXS1060 and GS1.