ichthyosis/edema

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Non pitting edema, arthritis and ichthyosis; presenting manifestation of leprosy.

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Leprosy is a chronic granulomatous infection caused by Mycobacterium leprae. Predominantly involving skin and nerves and having classic clinical description, the diagnosis may be clear-cut in majority of patients but may be challenging in others. Non-pitting edema, ichthyosis and arthritis are

Corneal edema in xeroderma pigmentosa.

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Perinatal-lethal Gaucher disease presenting as hydrops fetalis.

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Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis

[Acquired ichthyosis as a cutaneous symptom of Hodgkin's disease. Paraneoplastic syndrome].

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A case-report of a patient with acquired ichthyosis is given. The symptoms of the main disease-ascites, heavy edema, cachexia and general dissolution-became manifest at the same time as the cutaneous manifestations. The histological examination of a neck lymph node showed metastases of a carcinoma

Antenatal Findings of Keratitis-Ichthyosis-Deafness Syndrome.

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Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder characterized by keratitis, ichthyosis, and deafness. This syndrome affects multiple systems and can be fatal.A 34-year-old gravida 2, para 1 woman was admitted to the Ege

[Ultrastructural changes in the epidermis in ichthyosis vulgaris].

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Electron-microscopic examinations of the epidermis in 11 patients suffering from xeroderma with autosomal dominant and X-recessive inheritance have revealed changes in the basal membrane, scarce pinocytotic vesicles near the basal membrane, inter- and intracellular edemas in the epidermis, a

A new variant of autosomal recessive exfoliative ichthyosis.

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We report unusual congenital ichthyosiform dermatosis in 5 of 12 children in two related families of unaffected, consanguineous Bedouin parents. It appeared shortly after birth as a fine peeling of nonerythematous skin on palms and soles. Gradually it evolved into prominent, well-demarcated areas of

Ichthyosis hystrix (epidermal nevus syndrome) and Coats' disease.

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A 4-year-old girl had the ichthyosis hystrix variant of the epidermal nevus syndrome with ocular fundus manifestations of Coats' disease. Her hearing was impaired because of serous otitis media and her visual acuity decreased because of hard yellow exudate in the macula as a result of decompensation

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.

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Gaucher disease, the most common lysosomal storage disorder, encompasses a wide spectrum of clinical symptoms. The perinatal lethal form is very rare and is considered a distinct form of classic type 2 Gaucher disease. Prominent features of the severe perinatal form are hepatosplenomegaly variable,

Defective global genome repair in XPC mice is associated with skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema.

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It is generally presumed that xeroderma pigmentosum (XP) patients are extremely sensitive to developing UV erythema, and that they have a more than 1000-fold increased skin cancer risk. Recently established mouse models for XP can be employed to investigate the mechanism of these increased

Prenatal sonographic features of Harlequin ichthyosis.

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Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only

Ocular involvement in xeroderma pigmentosum.

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A 37-year-old, white woman with xeroderma pigmentosum had reduced vision for many years because of primary and secondary corneal epithelial edema and stromal haze. Corneal grafting was required, but was not successful. Numerous primary dermal tumors of various types involving the lids of both eyes

Descemet Stripping Automated Endothelial Keratoplasty for Endothelial Dysfunction in Xeroderma Pigmentosum: A Clinicopathological Correlation and Review of Literature.

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Xeroderma pigmentosum (XP) mainly affects the ocular surface; however, endothelial damage may also occur. We would like to report changes in the endothelial-Descemet layer and review the literature on similar findings in patients with XP, including the role of Descemet stripping automated

Corneal changes in xeroderma pigmentosum: a clinicopathologic report.

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OBJECTIVE To report the clinicopathologic features of corneal involvement in patients with xeroderma pigmentosum. METHODS Retrospective review of corneal histopathology. METHODS Thirteen corneal specimens of 11 patients with xeroderma pigmentosum who underwent keratoplasty (lamellar/full-thickness)

Facial features in Harlequin ichthyosis: Clinical findings about 4 cases.

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We report 4 cases of Harlequin ichthyosis, which is a rare and severe congenital ichthyosis involving the face. Facial appearance consists in severe ectropion, conjonctival edema, eclabium, flattened ears, broadened nose and large, thick, plate-like skin scales. Recent advances in neonatal care have

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