Cases reported "Ichthyosis, X-Linked"

Filter by keywords:



Filtering documents. Please wait...

1/8. child syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.

    child (congenital hemidysplasia, ichthyosis, and limb defects) syndrome is a rare, usually sporadic disorder associated with unilateral distribution of ichthyosiform skin lesions, limb defects, punctate calcifications of cartilaginous structures, and visceral anomalies. child syndrome shares some manifestations with X-linked dominant Conradi-Hunermann syndrome (CDPX2), although the skeletal defects and skin lesions in CDPX2 are bilateral and asymmetric. Because CDPX2 patients have abnormal 8-dehydrosterol metabolism caused by mutations in 3beta-hydroxysteroid-delta8,delta7-isomerase, we measured plasma sterols in a patient with child syndrome and found levels of 8-dehydrocholesterol and 8(9)-cholestenol increased to the same degree as in CDPX2 patients. Subsequently, we identified a nonsense mutation in exon 3 of the patient's 3beta-hydroxysteroid-delta8,delta7-isomerase gene. We speculate that at least some cases of child syndrome are allelic with CDPX2 caused by 3beta-hydroxysteroid-delta8,delta7-isomerase deficiency.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

2/8. Nutritional rickets in ichthyosis and response to calcipotriene.

    Nutritional rickets has occasionally been described in children with lamellar ichthyosis, but their vitamin D endocrine status has not been described. We report 3 cases of vitamin D-deficiency rickets associated with ichthyosis in African children. A 13-month-old Nigerian boy with lamellar ichthyosis had rib beading, elevated alkaline phosphatase, and rachitic changes on radiographs. His rickets did not resolve with calcium therapy, and his 25-hydroxyvitamin D level was low. His rickets resolved with parenteral vitamin D treatment, but his skin did not improve. Topical 0.005% calcipotriene (an analog of 1,25-dihydroxyvitamin D that has been useful in treating adults with psoriasis) was similarly ineffective in improving the child's skin condition. An 8-year-old Nigerian boy with life-long skin findings consistent with lamellar ichthyosis had windswept deformity of the legs with rib beading and enlargement of the wrists and ankles. Radiographs showed active rickets, and the boy had an elevated alkaline phosphatase level and a decreased calcium level. Before knowing that his 25-hydroxyvitamin D level was low, he was treated with calcium and showed radiologic improvement. The skin did not improve with resolution of the rickets but did improve with unilateral topical application of 0.005% calcipotriene. A 7-year-old South African girl presented with progressive windswept deformities of the legs and a 4-year history of skin disease (and a skin biopsy consistent with X-linked ichthyosis). Radiographs and biochemical data confirmed active rickets. Her rickets improved dramatically with vitamin D treatment. Thus, 3 African children with ichthyosis developed vitamin D-deficiency rickets, probably because of a combination of impaired skin production and sunlight avoidance. This is consistent with previous findings of hypovitaminosis D in adults with ichthyosis and other disorders of keratinization. Measurement of 25-hydroxyvitamin D may be indicated in children with ichthyosis to identify those at risk for vitamin D-deficiency rickets, because it is possible that the cutaneous synthesis of vitamin D in such children is impaired. Although the ichthyosis did not improve with resolution of vitamin d deficiency and rickets, 1 of 2 children treated with topical calcipotriene showed improvement in the treated areas of skin. Calcipotriene does not seem to be effective in reversing systemic vitamin d deficiency but can be effective in improving the severity of skin disease in children with ichthyosis.
- - - - - - - - - -
ranking = 3338.4049284021
keywords = rickets
(Clic here for more details about this article)

3/8. chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.

    chondrodysplasia punctata (CDP) is a heterogeneous group of rare bone dysplasias characterized by punctate calcification of cartilage. The punctate calcifications are non-specific and have been seen in a wide variety of disorders including the zellweger syndrome, warfarin, dilantin, alcohol and rubella embryopathies, vitamin-K-epoxide-reductase deficiency, chromosome trisomies 18 and 21, the smith-lemli-opitz syndrome, prenatal infectious chondritis, hypothyroidism, and other rare disorders. We report on a boy with short stature, developmental delay, nasal hypoplasia, telebrachydactyly, hypoplastic genitalia, CDP, ichthyosis, hypoplastic genitalia, and a 46-X, der(X),t(X;Y)(p22.31;q11.21), Y karyotype. Genomic dna probe analysis was interpreted as showing that the translocation breakpoint was within the X-linked kallmann syndrome gene. We review a current classification of these disorders that includes 3 well-defined single gene disorders. These include an autosomal recessive rhizomelic type with early lethality, an X-linked dominant type with presumed male lethality, and an X-linked recessive type that has only been described as part of a contiguous gene deletion syndrome.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

4/8. ichthyosis follicularis in two girls: an autosomal dominant disorder.

    ichthyosis follicularis (IF) is a rare disorder of keratinization that has been described primarily in males and proposed as a possible X-linked disorder. We report two black girls with nonscarring alopecia; photophobia; follicular hyperkeratoses; hyperkeratosis of the extensor aspects of the hands, knees, and elbows; fixed, erythematous, perineal plaques; and angular cheilitis who seem to fit the clinical criteria for IF. One girl also had gingival hypertrophy and a hearing deficit. One child's father had identical symptoms. We propose that these girls may have a variant of IF that is inherited as an autosomal dominant trait.
- - - - - - - - - -
ranking = 5
keywords = dominant
(Clic here for more details about this article)

5/8. Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata.

    X-linked dominant chondrodysplasia punctata is a rare genodermatosis characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We describe the case of a 32-year-old woman with ichthyotic skin lesions that developed during early childhood and persisted into adulthood. Psoriasiform skin changes became evident for the first time during adulthood. Both the ichthyotic and psoriasiform skin lesions followed Blaschko's lines. This case is unique because of the coexistence of ichthyotic and psoriasiform skin changes in an adult with X-linked dominant chondrodysplasia punctata.
- - - - - - - - - -
ranking = 6
keywords = dominant
(Clic here for more details about this article)

6/8. Monozygotic twin patients with congenital ichthyosis, microcephalus, spastic quadriplegia, myoclonus, and EEG abnormalities.

    A pair of monozygotic twins manifested widespread ichthyosis on the trunk and extremities, mainly on the extensor surface of the lower legs. Both patients had severe developmental retardation, microcephalus, spastic quadriplegia, myoclonus, and hearing impairment. Cranial computed tomography and magnetic resonance imaging revealed diffuse cortical atrophy. electroencephalography documented diffuse slow wave dysrhythmia and marked epileptic discharges, namely bilateral occipital dominant, and low-voltage multifocal spikes which appeared asynchronously as a burst, mainly during sleep. Skin biopsy revealed hyperkeratosis with parakeratosis. Granular cell layer was not thickened and diminished. Papillomatosis was absent. Electron microscopy did not reveal any distinctive abnormalities. sjogren-larsson syndrome and other known ichthyosis syndromes were excluded because of the difference in localization of skin lesions, skin manifestations, lack of papillomatosis, the nature and severity of neurologic symptoms and marked electroencephalographic abnormalities.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

7/8. X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hunermann syndrome and its murine homologue, the bare patches mouse.

    BACKGROUND AND DESIGN: The bare patches (Bpa) mouse expresses an X-dominant disorder that may be homologous to the Conradi-Hunermann (CH) syndrome in man; ie, both express ichthyosis, cataracts, and skeletal defects. To confirm their homology, we compared the light and electron microscopy of involved (I) vs uninvolved (U) skin from an infant with CH syndrome to Bpa mice during and after resolution of the scaling disorder. The peroxisomal content of Bpa and CH skin was evaluated by diaminobenzidine (DAB) ultracytochemistry (Bpa only) and by assessment of catalase (Bpa only) and dihydroxyacetone phosphate-acyltransferase (DHAP-AT) activities in cultured I vs U fibroblasts. RESULTS: Both CH and Bpa I epidermis exhibited psoriasiform features. In addition, ultrastructurally both exhibited the following: (1) vacuolated lamellar bodies, (2) dilatation of intercellular spaces by vesicular structures and amorphous debris, and (3) abnormal mitochondria. Stratum corneum interstices were filled with vesicular structures, and no lamellar unit structures were evident using ruthenium tetroxide postfixation. peroxisomes were poorly stained by DAB in I Bpa epidermis and dermis during the eruptive phase. Moreover, catalase and DHAP-AT activities in cultured I Bpa fibroblasts were decreased to 40% and 30% of U Bpa levels, respectively; DHAP-AT activity in cultured I CH fibroblasts was also reduced (60% of U CH). With resolution of the scaling disorder, the ultrastructural and ultracytochemical features of I and U Bpa skin became indistinguishable. CONCLUSIONS: These studies provide evidence for a self-resolving defect involving multiple organelles, including lamellar bodies, peroxisomes, and mitochondria in the I skin of CH syndrome and the Bpa mouse.
- - - - - - - - - -
ranking = 5
keywords = dominant
(Clic here for more details about this article)

8/8. X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

    X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review the literature and propose that X-linked dominant chondrodysplasia punctata is a peroxisomal disorder and that its phenotype can be explained by x chromosome lyonisation and the relative proliferation of cells expressing the normal X allele.
- - - - - - - - - -
ranking = 6
keywords = dominant
(Clic here for more details about this article)


Leave a message about 'Ichthyosis, X-Linked'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.