Cases reported "Ichthyosis"

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21/383. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.

    We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1. ( info)

22/383. Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis.

    We described a Japanese female with lamellar ichthyosis whose transglutaminase 1 gene (TGM1 gene) was mutated. DNA sequence analysis revealed that the patient had a homozygous mutation, i.e. a point mutation from G to A at nucleotide 1494 resulting in the substitution of glycine for arginine at codon 143. Her mother was heterozygous for this mutation. In situ transglutaminase assay in the patient's skin showed loss of enzyme activity. Ultrastructural examination revealed incomplete formation of cornified cell envelopes and electron-dense materials adjacent to plasma membranes. These results suggest that defective transglutaminase activity caused by homozygous TGM1 gene mutation (G143R) results in disruption of cornified envelope assembly and the clinical phenotype of lamellar ichthyosis. ( info)

23/383. cholesterol metabolsim defect associated with Conradi-Hunerman-Happle syndrome.

    We present a 6-week-old black girl with Conradi-Hunerman-Happle syndrome (CHS). The mother had no past medical history of illness, and the pregnancy progressed normally to a spontaneous vaginal delivery at 36 weeks. There was no known significant family history. A diagnosis of chondrodysplasia punctata was made at birth from physical examination and X-ray findings. On physical examination at 6 weeks, a koala face, a saddle nose, and a right-sided cataract were noted (Fig. 1a,b). There was unilateral left-sided ichthyosis well demarcated at the midline, with whorled brown fine scale following Blashko's lines on the patient's right side. Orthopedic complications were bilateral but were more pronounced on the left side. There was bilateral shortening of the humerus, with polydactyly of the right hand, arachnodactyly of the left fingers, bilateral clubbing, and mild contractures of the feet. x-rays showed multiple calcifications along the spine, proximal and distal femoral epiphysis, and proximal humeral epiphysis (Fig. 2). The patient was treated with emollients (aquaphor) twice daily with continuing improvement in ichthyosis. The clubbed feet were treated with splinting and the polydactyly was corrected by surgery. ophthalmology was to follow the patient for her right-sided cataract. At the patient's 4-month follow-up, the ichthyosis showed a marked improvement with some residual hypo- pigmented atrophoderma noted. The distribution remained unchanged. Biopsies taken of ichthyotic lesions showed compact hyperkeratosis and follicular plugging. Vesicles within the stratum corneum contained amorphous material (Fig. 3a,b). The granular cell layer was thickened with retained oval nuclei. The epidermal and adnexal epithelium were disorganized. Increased apoptotic/dyskeratotic keratinocytes were seen within the epidermis, but were most evident within the follicular epithelium. Ultrastructural studies showed saccular dilations of the acellular space within the stratum corneum. These acellular spaces were filled with unprocessed lamellated pleated sheets and vesicle complexes and processed lamellae. Dyskeratotic cells were seen within the stratum spinosum. Red blood cell (RBC) plasmalogen levels and polyunsaturated fatty acids (PUFA), including decosahexaenoic acid (DHA), were within normal limits. plasma very long chain fatty acids (VLCFA), including C26 : 0/C22 : 0 ratios, phytanic and pristanic acids, plasmalogen, and phytanic/pristanic ratios, trihydroxycholestanic acid (THCA) and dihydroxycholestanoic acid (DHCA) including their ratios, THCA/cholic acid and DHCA/chenodeoxycholic acid, and PUFAs including DHA were within normal limits. urine organic acids and piecolic acid were within normal limits. Despite these normal values, there was an increase in cholest-8(9)-en-3beta-ol of 6.8 microg/mL (normal, 0.01-0.10 microg/mL) and an increase in 8-dehydrocholesterol (5.1 microg/mL) (normal, <0.10 microg/mL). ( info)

24/383. Tay's syndrome: MRI.

    Tay's syndrome is a trichothiodystrophy associated with congenital ichthyosis. We report the findings on MRI and spectroscopy in a young girl with sparse, short, ruffled hair, dry skin and delayed milestones. T2-weighted images showed prominent diffuse confluent increase in signal symmetrically in all the supratentorial white matter. These findings are similar to those in a previously described case, and consistent with dysmyelination. Spectroscopy showed increased myoinositol and decreased choline. ( info)

25/383. Clearance of ichthyosis linearis circumflexa with balneophototherapy.

    We report a 13-year-old boy suffering from severe ichthyosis linearis circumflexa. Evidence of hair shaft abnormalities and impaired immunity could not be found. The patient was treated with salt water baths and artificial UVB radiation (balneophototherapy) 3-5 times weekly. After 40 treatments with balneophototherapy the skin lesions were almost completely cleared and maintenance UVB monotherapy was performed twice weekly for 2 months. After 4 months, however, the disease relapsed. Balneophototherapy presents a potentially effective and well tolerated phototherapeutic option for ichthyosis linearis circumflexa. As only short periods of remission may be expected, intermittent balneophototherapy would be probably necessary to control the disease. ( info)

26/383. Human papillomavirus infection in Netherton's syndrome.

    BACKGROUND: Netherton's syndrome (NS) is a hereditary disorder with dermatological signs (e.g. ichthyosis) and a complex immunological dysfunction. In immunodeficient individuals human papillomavirus (HPV) types are associated with carcinomas on non-mucosal sites. OBJECTIVES: To study the presence of HPV infection in different skin lesions of three male NS patients and to investigate a possible association between HPV and malignancies in NS. methods: Patient 1 had extraordinary widespread multiple skin carcinomas on sunlight-exposed areas, as well as common viral warts. Patient 2 showed disseminated viral plane warts that resolved spontaneously, and patient 3 was free of skin lesions suspicious for HPV infection; only pseudoepitheliomatous wart-like lesions as a symptom of ichthyosis were apparent. We performed nested polymerase chain reaction analysis of DNA from benign and malignant skin lesions and HPV-8 serology in these three patients. RESULTS: antibodies to HPV-8 were not detectable in our patients; however, seven of 22 (31%) biopsies of the three NS patients were positive for HPV DNA. epidermodysplasia verruciformis (EV) -associated HPV types and normal cutaneous types (HPV-2, HPV-28) were detected. Interestingly, only the patient with cutaneous carcinomas harboured, preferentially in malignant lesions, EV-HPV types (HPV-19, 23, 38 and HPV-RTRX9, closely related to EV-HPVs), whereas plane warts of patient 2 were positive for HPV-28. The pseudoepitheliomatous skin lesions were HPV-DNA negative in all investigated probes. CONCLUSIONS: These data in NS patients further confirm an association of EV-HPVs with non-melanoma skin cancer (NMSC) and suggest a possible carcinogenic role similar to that assumed for NMSC in transplant recipients. A complex immunological disorder facilitating EV-HPV infection, negative HPV serology and photochemotherapy may all have contributed to the unusual occurrence of multiple cancers in one of our NS patients. ( info)

27/383. adolescent-onset ichthyosiform-like erythroderma with lichenoid tissue reaction: a new entity?

    A patient with severe ichthyosiform erythroderma and lichenoid histological changes is presented. We discuss the clinical and histological differential diagnosis, including lupus erythematosus, lichenoid drug eruption, lichen planus, graft-versus-host disease, lymphoma, keratosis lichenoides chronica, Netherton's syndrome and ichthyosiform erythroderma. None of these is consistent with the features in our case, which may represent either a hitherto unreported form of ichthyosiform erythroderma or possibly a new entity. ( info)

28/383. PIBI(D)S: clinical and molecular characterization of a new case.

    The term PIBI(D)S has been used to indicate a rare recessively inherited genetic disorder characterized by photosensitivity, mild non-congenital ichthyosis, brittle sulphur-deficient hair with trichoschisis (trichothiodystrophy), impaired intelligence, occasionally decreased fertility and short stature. To the best of our knowledge, about 20 cases have been reported in the literature. Here we report the characterization of the hair, brain, ultraviolet sensitivity and DNA excision repair defects of a new patient affected by PIBI(D)S. The diagnosis of PIBI(D)S syndrome was made in our patient on the basis of the clinical features and then confirmed by hair microscopy and biochemical analysis. Our patient has increased muscular tone, alteration of the deep tendon reflexes and psychomotor retardation, all consistent with hypomyelination of the brain showed by magnetic resonance imaging and computed tomography. A deficiency of dna repair capacity was demonstrated in our patient. Furthermore, complementation analysis by cell fusion assigned our patient to xeroderma pigmentosum group D. The nucleotide excision repair defect of the other reported patients with PIBI(D)S falls generally into the same group as xeroderma pigmentosum group D and carry a mutation on the same repair gene (XPD). The relationship between these molecular characteristics and the clinical spectrum of PIBI(D)S is discussed. ( info)

29/383. 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. ( info)

30/383. An Indian case of keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with ichthyosiform dermatosis.

    Keratoderma hereditarium mutilans (KHM) or Vohwinkel's syndrome (VS) is usually inherited as an autosomal dominant disease, but a recessive type has occasionally been described. We report a 19-year-old male born to consanguineous parents, who presented with KHM associated with generalized ichthyosiform dermatosis. On examination, his generalized ichthyosiform dermatosis was accompanied by severe 'honey comb' like palmoplantar keratoderma and marked hyperhidrosis. Bilateral fifth toes showed complete constricting bands just distal to the metatarsophalangeal joints leading to pseudoainhum. The histopathologic examination of a biopsy from the sole showed hyperkeratosis, marked parakeratosis, hypergranulosis, acanthosis, and a few mononuclear cells in the papillary dermis, consistent with the diagnosis of KHM. Several hereditary disorders may show varying degrees of hyperkeratosis and constriction of digits; their differentiating features are discussed. This case is reported for its rarity and interesting associated findings. ( info)
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