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PubMed2000

Hypomelanosis of Ito: clinical syndrome or just phenotype?

The term hypomelanosis of Ito is applied to individuals with skin hypopigmentation along the lines of Blaschko. Even though originally described as a purely cutaneous disease, subsequent reports have included a 33% to 94% association with multiple extracutaneous manifestations mostly of the central nervous and musculoskeletal systems leading to frequent characterization as a neurocutaneous disorder. A number of reports claimed familial occurrence and supported single gene inheritance for hypomelanosis of Ito, but none has been proved. Miscellaneous chromosomal mosaicisms have been demonstrated in some but not all affected individuals. Thus, it has been suggested that hypomelanosis of Ito is not a single condition but rather a nonspecific manifestation (ie, a phenotype) of chromosomal mosaicism and that this term should now be dropped. In this article, we review these developments focusing on the neurologic and genetic aspects of hypomelanosis of Ito. Our personal experience with 41 hypomelanosis of Ito patients and literature review led us to conclude that (1) the term hypomelanosis of Ito has been often misapplied to individuals with nonspecific "patchy depigmentation of the skin" who had several conditions of different etiologies; (2) the white matter involvement seen at neuroimaging in most of our hypomelanosis of Ito patients was similar to that reported in well-defined neurocutaneous disorders, including Sjögren-Larsson syndrome and incontinentia pigmenti; (3) whatever figures we take for associated central nervous system abnormalities in hypomelanosis of Ito, these represent the most frequent extracutaneous findings and, therefore, the use of the term neurocutaneous disorder for hypomelanosis of Ito might well be appropriate.

Diagnosis, Differential↗
PubMedDate not supplied

[Principle histoclinical forms of iatrogenic eruptions].

The staggering multiplication of chemotherapy and polychemotherapy, in addition to artificial substances introduced into foodstuffs (such as saccharin in certain so-called fruit juices), has resulted in innumerable visceral and cutaneous disorders. Confining ourselves to "iatrogenic" rashes, the mechanism of which is far from being a single entity, we have riviewed the six most common varieties: recurrent fixed pigmented erythema, in which stovarsol has given way to the sulphaguanidines; pigmentogenic rashes with the renewed use of amiodarone; eczema and erythrodermia which may be due to any drug, with or without the influence of the sun; iatrogenic lichens, atebrine having provided all types; bullous conditions, sometimes the final stage of the previous group; finally, Lyell's syndrome. Our aim was to study skin biopsies in all these problems, in order to attempt to discover typical lesions.

Blister↗
PubMed1984

Cutaneous signs of dioxin exposure.

Cutaneous stigmata of exposure to the halogenated compounds, including dioxin, may be the most sensitive index of exposure. The most common skin findings include chloracne, hyperpigmentation and hirsutism. Dioxin exposure may occur in a number of ways, in industrial, military and accidental settings. The cutaneous signs of dioxin exposure should prompt a careful evaluation for associated systemic disorders.

Acne Vulgaris↗
PubMed1996

Manufacture and characterization of poly(alpha-hydroxy ester) thin films as temporary substrates for retinal pigment epithelium cells.

For many disorders of the retinal pigment epithelium (RPE) for which there are no effective treatments, transplantation of RPE cells may provide a viable means of restoring function. Using a solvent casting technique, we have manufactured thin films of poly(L-lactic acid) and poly(DL-lactic-co-glycolic acid) 75:25 and 50:50. Non-porous, flexible films with controlled thickness as thin as 12 +/- 3 microns and reproducible surface morphologies and flexural properties were produced. Fetal human RPE cells were found to attach to these substrates when cultured in vitro. The films made using this technique may provide a means of transplanting allogeneic RPE cells as a therapy for a number of ocular diseases related to RPE dysfunction.

Abortion, Therapeutic↗
PubMed1991

Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia.

Diploid/triploid mosaicism is an uncommon clinical syndrome with a subtle but distinctive phenotype. Characteristic features include prenatal and postnatal asymmetric growth deficiency, triangular and/or asymmetric facies, micrognathia, finger and/or toe syndactyly, clinodactyly, single transverse palmar creases, male genital anomalies, hypotonia and psychomotor retardation. This disorder is underdiagnosed because in 70% of cases the triploid cell line is only seen in fibroblasts. In cases in which a triploid cell line is found in lymphocytes, it usually occurs in less than 5% of cells. While some reports of diploid/triploid mosaicism have mentioned unusual skin pigmentary patterns, including hypomelanosis of Ito, it was only recently recognized that this is a helpful diagnostic clue in mosaic chromosome disorders. We report monozygotic twin girls with diploid/triploid mosaicism whose cutaneous pigmentary dysplasia led to their diagnosis.

Abnormalities, Multiple↗
PubMed1977

Environment and the skin.

The skin is an important interface between man and his environment; it is an important portal of entry for hazardous agents and a vulnerable target tissue as well. It is a uniquely accessible model system for detecting hazards and for studying mechanisms of a wide variety of biologic funcitons. Environmental causes of skin reactions comprise a vast array of physical, chemical and biological agents. To appreciate the role of the skin as an interface with man's environment, it is necessary to understand the multiple adaptive mechanisms, and the defenses of the skin against the environmental stresses. The skin is endowed with a versatile group of defenses against penetration, fluid loss from the body, thermal stress, solar radiation, physical trauma and microbial agents. Patterns of adverse response range in quality and intensity from uncomplicated itching to metastatic neoplasia. Environmental problems comprise a large segment of disabling skin disease. Although critical epidemiologic data is limited, cutaneous illnesses comprise a significant segment of occupational disease. This represents a significant loss in productivity and a major cause of disability. The most serious research needs include the development of surveillance systems for identifying skin hazards and determining frequency of environmental skin disease; the development of new models for studying cutaneous penetration; the elucidation of the mechanisms of nonallergic inflammatory reactions (primary irritation) and of the accommodation phenomenon; the development of more sensitive models for predicting adverse responses to marginal irritants; the utilization of modern skills of immunobiology and immunochemistry to elucidate mechanisms of allergic responses; the launching of epidemiologic studies to determine the long term effects of PCBs and associated compounds such as dioxins; and the expansion of research in the mechanisms of skin cancer in relation to susceptibility, genetic and metabolic considerations, ultraviolet light, and phototoxic agents.

Dermatitis, Contact↗
PubMed1999

Cutaneous side effects from laser treatment of the skin: skin cancer, scars, wounds, pigmentary changes, and purpura--use of pulsed dye laser, copper vapor laser, and argon laser.

It has been the intention of this thesis to increase the knowledge on the development of cutaneous side effects from treatment with the argon laser, the copper vapor laser, and the pulsed dye laser, which represent technical developments within laser systems used for treatment of vascular lesions. To reach that goal, the investigations focused on patient and lesional characteristics (skin pigmentation, skin redness, and epidermal thickness) and on the importance of UV irradiation before and after dermatological laser treatment. The aspect of UV irradiation was added because vascular lesions frequently involve the face and, therefore, may be exposed to sunlight in relation to laser treatment. Risk assessments were performed on clinically visible side effects in order to improve the preoperative information to the patients about their individual risks of obtaining side effects from dermatological laser treatment. The laser-induced side effects were evaluated by systematic clinical assessments, by histological and biochemical examinations, by skin reflectance measurements, optical profilometry, and ultrasonography. The term side effects is associated with both transient and permanent skin reactions such as purpura, wounds, textural changes, scars, pigmentary changes, and squamous cell carcinomas. Lightly pigmented, hairless hr/hr C3H/Tif mice, hairless, albino hr/hr MORO/Ibm mice, human, healthy volunteers, and children with port-wine stains were included in the studies. This thesis represents the first systematic and experimental approach to selected side effects from laser treatment of the skin. The argon laser (AL) and the copper vapor laser (CVL) The results from AL and CVL treatments are described together because these lasers are continuous/quasicontinuous lasers that do not meet the requirements for selective photothermolysis, which represents the most selective delivery of energy to cutaneous vessels. In normal-skinned human volunteers, the postoperative development of scars and pigmentary alterations depended on the preoperative constitutive skin pigmentation degree. Significant correlations were found between the preoperative skin pigmentation and the clinically scored pigmentary changes and scarring 1, 2, and 6 months postoperatively, indicating that dark-pigmented skin types respond with more heavy skin reactions than fair-pigmented skin types. Pigmentary changes occurred at lower intensity levels than scarring. No difference was seen between the AL and the CVL concerning the risk of inducing these side effects. In hairless, albino hr/hr MORO/Ibm mice increasing epidermal thicknesses reduced CVL-induced wounds and scars. Significant negative correlations were found between preoperative epidermal thicknesses and CVL-induced skin reactions. In lightly pigmented, hairless hr/hr C3H/Tif mice, CVL treatment induced an increase in skin pigmentation, evaluated by a semiquantitative technique. Postoperative UV irradiations with simulated solar UV increased the CVL-induced skin pigmentation additionally. The size of CVL-induced wounds and scars tended to enlarge by preoperative UV irradiations. In contrast, CVL-induced wounds were diminished and had a prolonged wound healing time when postoperative UV irradiations were given. This may indicate a deep constricted skin damage. Moreover, the histologically evaluated fibrosis and the frequency of bulging infiltration were increased by postoperative UV irradiation. When taking the liberty to extend the obtained results from the animal studies to humans, these results support the importance of pre- and postoperative sunprotection. Regarding skin cancer, in hairless mice it was found that one treatment with the CVL did not have a malignant potential itself. Pretreatment with the CVL at the highest intensity level (1.4W) delayed UV-induced photocarcinogenesis significantly. The pulsed dye laser (PDL) The PDL is described separately because it is the only laser in this thesis that fulf

Adult↗
PubMed1992

Growth retardation and depigmentation of hair after high-dose busulfan and congenic hematopoietic cell transplantation in mice.

Busulfan, a myeloablative but non-immunosuppressive alkylating agent, is used extensively in clinical bone marrow transplantation (BMT), but the effects of high-dose administration have not been previously evaluated in preclinical BMT settings with young murine recipients. We compared the survival and growth of C57BL/6 mice given graded single doses of busulfan (10-100 mg/kg) or total body irradiation (TBI; 900 cGy) at age 9 days and hematopoietic cell transplantation (HCT; transplantation of congenic bone marrow and spleen cells) 24 h later. The 30-day survival was 87-100% in mice transplanted after 10-40 mg/kg busulfan and 79% after TBI, but fell to 54% and 33%, respectively, after 80 mg/kg and 100 mg/kg busulfan, suggesting that this latter dosage range represents the LD50 for single-dose busulfan in young C57BL/6 mice given stem cell rescue. The weights of 10-week-old mice given HCT after lower doses of busulfan ranged from 87% of control at 10 mg/kg to 64-69% of control in mice conditioned with 35-65 mg/kg busulfan or TBI. Impairment of weight gain was most striking (approximately 50% of control) in mice transplanted after 80-100 mg/kg busulfan. Despite retardation of somatic growth, the brain weights of busulfan-conditioned mice remained at least 90% of control, and there were no obvious neuropathological alterations in the brains of these animals. All mice treated with at least 20 mg/kg busulfan or TBI lost hair by 3-4 weeks after transplant.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1995

Neurocutaneous syndromes associated with pigmentary skin lesions.

Tremendous strides have been made in our understanding of genetic disorders, including those that involve both the skin and the nervous system. The list of well-established neurocutaneous syndromes has increased during a few decades from a few classical phakomatoses to more than 30 entities. The dermatologist has the opportunity to facilitate precise diagnosis and optimal care for these patients by recognition of the cutaneous markers for these diseases. We have attempted to provide an overview of some recent advances in those syndromes manifested by pigmentary skin changes, emphasizing the clinical spectrum of each disorder and providing guidelines for an approach to management.

Humans↗
PubMed2001

Open pilot study on oxcarbazepine for the treatment of notalgia paresthetica.

Notalgia paresthetica is a sensory neuropathy typically presenting with pruritus on the back. There is currently no effective treatment for this disorder. We describe a single patient who responded to oxcarbazepine, and a subsequent trial in another 4 who also responded. Although the number of patients in our study is small, we believe further trials are warranted to determine the efficacy of oxcarbazepine in this disorder.

Adult↗