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PubMedDate not supplied

Cutaneous melanin exhibiting fluorescence emission under near-infrared light excitation.

Under ultraviolet and visible light excitation, melanin is essentially a nonfluorescent substance. This work reports our study on near-infrared (NIR) fluorescence properties of melanins, and explores potential applications of NIR fluorescence techniques for evaluating skin disorders involving melanin. The NIR fluorescence spectrum is obtained using a fiber optic NIR spectrometer under 785-nm laser excitation. In vitro measurements are performed on synthetic dihydroxyphenylalanine (DOPA) melanin, melanin extracted from Sepia ink sacs, human hair, animal fur, and bird feathers. Paired spectral comparisons of white and black skin appendages show that melanization of hair, fur, or feathers more than doubles the NIR fluorescence. In vivo NIR autofluorescence of normal dorsal and volar forearm skin of 52 volunteers is measured. Dorsal forearm skin, which is darker than volar skin, exhibits significantly greater NIR fluorescence. Patients with vitiligo (n=4), compound nevus (n=3), nevus of Ota (n=1), superficial spreading melanoma (n=3), and postinflammatory hyperpigmentation (n=1) are also evaluated. NIR fluorescence is greater within the lesion than the surrounding normal skin for all these conditions except vitiligo, where the converse was true. The observed melanin NIR fluorescence provides a new approach to in vitro and in vivo melanin detection and quantification that may be particularly useful for evaluating pigmented skin lesions.

Animals↗
PubMed1986

[Polyneuropathy, organomegaly, endocrinopathy and skin changes in a case of solitary myeloma].

The case is reported of a 32-year-old woman with polyneuropathy, organomegaly, edema, endocrinopathy, dark skin and solitary myeloma with monoclonal gammopathy of IgG/lambda type. More than 100 cases of this rare disorder have been observed up to now, mainly in Japan. In recent reviews the terms POEMS-syndrome or Crow-Fukase-syndrome have been used. Local radiotherapy of the myeloma led to lasting regression of symptoms. Studies with immunocytochemistry and immunoelectroblotting revealed specific antibody activity against hypophysis, suggesting that the pathologic monoclonal myeloma antibodies may damage the neuroendocrinic centers in hypothalamus and hypophysis as the primary target. Most of the multisystemic symptoms would thus be explained as secondary alterations.

Adult↗
PubMed1998

Review of cutaneous lasers and their applications.

BACKGROUND: The use of lasers has assumed an increasingly important role in the treatment of a variety of cutaneous lesions over the past few decades. Because of their effectiveness, physicians from a variety of specialties have incorporated lasers into their practices. Unfortunately, widespread availability of lasers and the public's fascination with their potential uses have created extraordinary, often unrealistic, expectations. METHODS: We review the laser systems most frequently used to treat skin conditions. RESULTS: We discuss lasers with specificity for vascular malformations and pigmentary disorders as well as for tattoos and scars. Also, we review the latest techniques for cutaneous laser resurfacing with carbon dioxide and erbium:YAG lasers. Last, we briefly outline future uses of lasers and ongoing investigations, including laser treatment of leg veins and laser-assisted hair removal. CONCLUSIONS: Lasers, when properly used, offer clear advantages when compared with older, traditional approaches. Laser technology is clearly at its best when the characteristics of selectivity and specificity apply. Significant improvement and even elimination of many cutaneous lesions can now be accomplished with reduced risks to the patient when proper patient selection and laser treatment parameters are chosen.

Cicatrix↗
PubMed1976

Familial generalized dyschromic amyloidosis cutis.

A generalized form of primary cutaneous amyloidosis was found in two siblings when microscopic examination was carried out on areas of scattered hypopigmentation. Multiple biopsies from different sites of the skin suggested that the pigmentary disorder was probably a process independent of the amyloidosis. One of the siblings died of interstitial pulmonary fibrosis, congenital pulmonary stenosis and diabetes mellitus. Post mortem examination of the lungs showed the presence of few amyloid deposits in the diffusely fibrotic tissue, suggesting that these were secondary to the chronic pulmonary disease. Because of the absence of amyloid involvement in parenchymatous organs and the absence of cutaneous signs of systemic amyloidosis as macroglosia or petechiae, this case suggests that primary cutaneous amyloidosis is distinctly different from the cutaneous manifestation of primary systemic amyloidosis.

Adult↗
PubMed1987

Non-von Recklinghausen's neurofibromatosis presenting as hemifacial neurofibromas and contralateral café au lait spots.

The term neurofibromatosis designates a spectrum of disorders, the most common of which is von Recklinghausen's disease. We describe two patients with forms of neurofibromatosis other than von Recklinghausen's neurofibromatosis, characterized by involvement of half of the face and the contralateral lower extremity. Neither patient had a family history of neurofibromatosis, and a thorough evaluation of both patients failed to reveal evidence of von Recklinghausen's disease. The classification of neurofibromatosis is briefly summarized, with special emphasis placed on the need for a specific diagnosis regarding the type of neurofibromatosis for purposes of estimating prognosis and providing genetic counseling. The relationship between pregnancy and neurofibromatosis is also discussed.

Adult↗
PubMedDate not supplied

[Prenatal diagnosis in dermatology: contribution of the ultrastructural study].

Fetoscopy and fetal skin biopsy have together played an important role for antenatal diagnosis of various hereditary skin disorders (genodermatoses). The fetus and placenta can be visualized directly and skin biopsy samples can be obtained for light and electron microscopic studies, tissue culture and biochemical analysis. These techniques have been used successfully in the prenatal diagnosis or exclusion of some types of epidermolysis bullosa, ichthyosis, Chediak-Higashi syndrome, oculocutaneous albinism and anhydrotic ectodermal dysplasia in fetuses known to be at risk from these diseases. The purpose of this report is to describe the current methods of fetoscopy and fetal skin biopsy and to review their main dermatological indications. Complications associated with these procedures are also discussed.

Biopsy↗
PubMed1990

[Cutaneous lesions in POEMS syndrome. Apropos of 3 case reports and a review of the literature].

We present three new cases of POEMS syndrome with the most common cutaneous signs of this entity. The syndrome is a multivisceral complex, mostly described in Japanese patients, which includes polyneuropathy, organomegaly, endocrine disorders, monoclonal gammopathy and skin changes. The latter are constant but sometimes reduced to one type of lesion. The most frequent are hyperpigmentation sparing the mucosae, hypertrichosis, scleroderma-like skin thickening and capillary angiomas. The other signs are much less common, as shown in table I. Histological findings are seldom reported and usually have little specificity. None of these abnormalities is pathognomonic, but their predominance at the extremities may be suggestive and leads to a search for other elements of the syndrome, notably gammopathy. The main differential diagnostic problem is with scleroderma, sometimes circumscribed and often systemic. Some cases are very ambiguous. The relationship between the two diseases would suggest the existence of one or several common pathogenic factors. The overall physiopathology of POEMS syndrome is obscure. The role of endocrine disorders in the genesis of the cutaneous signs is subject to discussion: hyperoestrogenism may explain some of these signs, but hypertrichosis is incompatible with the frequent finding of low androgen secretion. The role of one or several "toxic" substances secreted by plasmocytes is highly hypothetical. In some cases, the skin abnormalities have regressed after treatment of gammopathy, and in rare patients the recurrence of gammopathy was followed by that of skin lesions. In a few cases, a "paraneoplastic" character may be suspected.

Adult↗
PubMed1983

Melanocyte-lymphocyte interaction in human graft-versus-host disease.

Pigmentary disorders in chronic human GvHD comprise reticular or diffuse hyper- and hypopigmentation and seem to result from an interaction between lymphocytes and melanocytes. This interaction could be visualized by standard microscopy with a specific staining for melanin. The main ultrastructural findings were, in hyperpigmented areas: broad contact between melanocytes and lymphocytes, numerous and packed melanosomes, presence of cytoplasmic lipid droplets; in hypopigmented areas: disintegrating melanocytes with large intercellular spaces, small melanosomes, numerous lipid droplets, vacuolated organelles, as well as condensed and convoluted nuclei. Different hypotheses to explain the dysfunction of melanocytes are presented.

Adolescent↗
PubMed2001

[A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis].

The patient was a 23-year-old woman. She was the product of a full-term pregnancy and normal delivery. At age 3, she was observed to have eruptions on the face and extremities. Gait disturbance and abnormal posture appeared when she was 17-year-old. Mental deterioration followed several years later, and these symptoms progressed gradually. On examination at age 23, mixture of hyperpigmented and hypopigmented macules were observed on the face and the dorsal aspects of the extremities. We diagnosed her skin lesion as dyschromatosis symmetrica hereditaria (DSH) based on dermatological findings, normal minimal erythema dose and normal unscheduled DNA synthesis of her skin fibroblasts. Neurologically, she showed moderate mental deterioration, dystonic posture, dystonic and spastic gait, and generalized hyperreflexia. Laboratory examinations, including parathyroid function, were normal. Brain CT scan revealed severe symmetrical calcifications in the basal ganglia, cerebral white matter, and dentate nucleus. She also showed aplasia of dental root and aortic valve sclerosis. Her father also revealed the same clinical features including skin lesion, movement disorder, mental deterioration, and severe aortic valve calcification. So we diagnosed this patient as familial idiopathic brain calcification associated with DSH, aplasia of dental root, and aortic valve sclerosis. Constellation of these clinical features does not match any previously established type of familial idiopathic brain calcification or hereditary dystonia. However, Patrizi et al reported a patient with DSH associated with torsion dystonia who was very similar to our patient. We propose that our patient and the patient reported by Patrizi et al construct a distinct clinical entity in familial idiopathic brain calcification or hereditary dystonia.

Adult↗
PubMed1977

[Fanconi-Zinsser disease].

Fanconi-Zinsser's disease is a serious involutive myelopathy responsible for pancytopenia, hyperpigmentation, oralplakia and onychodystrophy, together with lesser dysmorphisms in many cases. The marrow blood picture is reminiscent of the better-known Fanconi's disease, while the skin and mucosa picture is similar to that of congenital dyskeratosis - hence the combined name. A typical case, but complicated by Lewandowsky's disease for the first time in the literature, is presented. Papova-virus was noted in the typical verrucae. The modern "pathology due to genome instability" is examined. Lewandowsky's disease is regarded as a familial form and precancerous, owing to its possible Bowenoid transformation. The association is seen as particularly significant in stressing the disorder of the immunocompetent syste, this being most evident from the finding of serum anti-red-cell auto-antibodies and a deficiency of T lymphocytes. Fanconi-Zinsser's disease has only been reported 21 times in the literature, mostly in males. Incomplete forms are, however, noted in relatives, suggesting that it originates in a genetic disorder whose transmission modality is not clear, though incomplete dominance is suspected. Genome instability is probably responsible behind the onset of the disease and its neoplastic complications - these being also feature of other forms provoked by such instability, such as Bloom's syndrome and ataxia telengiectasia. Fanconi's disease also has marked neoplastic tendencies. Clinically, Fanconi-Zinsser's disease can be classified as distinct, since it has signs and an evolutive modality that distinguish it from Franconi's disease, Estren-Damesheck's syndrome and amegakaryocytic thrombocytopenia. Genetically, it can be seen that all these diseases are referable to "pathology due to genome instability".

Adult↗
PubMed1993

Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage.

Multiple café-au-lait spots have been observed in successive generations of several families without any other manifestations of neurofibromatosis (NF) or any other systemic disorder. The café-au-lait spots in these families segregate as an autosomal dominant trait. The relationship (if any) between the gene for this trait and the NF-1 gene has previously been unknown. We describe a family with five individuals spanning four generations with dominantly inherited café-au-lait spots, without any other stigmata of NF-1. Linkage analysis with probes proximal, distal, and within the NF-1 gene indicate that the trait in this family is not linked to NF-1. We propose that this condition be called Familial Café-Au-Lait Spots (FCAL) to distinguish it from the neurofibromatosis syndromes.

Alleles↗
PubMed2004

Role of laser therapy in dermatology -- clinical aspects.

BACKGROUND: Laser therapy has become an integral part of therapeutic alternatives in dermatology. Nevertheless, there are only few statistical data on the role of lasers in everyday practice of dermatological clinics. OBJECTIVE: Analysis of laser patients, indications and lasers used. METHODS: We analysed 10244 patients treated with laser therapy in the Department of Dermatology at the University of Regensburg from 1992 to 2000. This figure represents 9.6 % of all patients seen during that period. RESULTS: Vascular lesions (hemangiomas, port-wine stains, telangiectasias) represented the most common indication (more than 70%) followed by infectious disorders (mostly papillomavirus lesions) as well as the removal of hairs and tattoos. Accordingly, the most frequently used laser was the flashlamp-pumped pulsed dye laser (585 nm) followed by the argon ion, the long-pulse tunable flashlamp-pumped pulsed dye laser, the Q-switch ruby laser, and the CO(2)-laser. In recent years, the percentage of indications and lasers used has changed significantly, reflecting the development of new lasers and the introduction of new indications. CONCLUSIONS: The results confirm the important role of laser therapy in dermatology.

Adolescent↗
PubMed1989

Hyperpigmentary disorders--mechanisms of action. Effect of azelaic acid on melanoma and other tumoral cells in culture.

Azelaic acid has been shown to have a dose- and time-dependent inhibitory effect on both proliferation and cell viability of murine and human melanoma cells at a concentration of 10(-3) M and higher. It also has an inhibitory effect on DNA synthesis and plasminogen activator activity, and causes swelling and vacuolation of mitochondria. These effects have also been observed with other tumoral cells in culture-lymphoma and leukaemia derived cell lines, and human squamous cell carcinoma. Normal cells in culture are not generally affected by exposure to azelaic acid. Tissue culture experiments have confirmed the clinical activity and efficacy of azelaic acid, and biochemical conclusions as to its mode of action.

Animals↗
PubMed2005

Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH).

Dyschromatosis symmetrica hereditaria (DSH [MIM 127400]) is characterized by the presence of hyperpigmented and hypopigmented macules mostly on the dorsal aspects of the extremities. Genetic studies have identified mutations in the ADAR gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we found a novel deletion mutation in the ADAR gene, 2929delA, in a Chinese family with DSH. This mutation is located in codon 977 (AGC-->GC), and leads to a frameshift and truncated protein of 250 amino acids with 76 novel amino acids prior to a premature stop codon. The truncated ADAR is predicted to lack the ADEAMc (tRNA-specific and double-stranded RNA adenosine deaminase) domain. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on ADAR gene mutations in DSH.

Adenosine Deaminase↗
PubMed1976

Ultrastructure of macrophage-lymphocyte interaction in purpura pigmentosa progressiva.

Thin sections of pathologically changed skin lesions of patients suffering from purpura pigmentosa progressiva, a disorder which seems to be mediated by delayed type of allergy, were electron microscopically investigated. In 5 of the 7 cases we found cell infiltrates of the dermis consisting of many lymphocytes frequently in apposition to macrophages (histiocytes). The cell interactions observed occurred either by microvilli-like cytoplasmic protuberances or by local areas of the plasma membrane apposition. No submicroscopical alterations of the cytoplasm were found in the interacting cells although numerous macrophages show abundant microfilaments. The findings observed are interpreted as the ultrastructural substrate of cell cooperation for presenting and transfering antigens from macrophages to T lymphocytes. However, the question concerning the mechanism of the transfer remains open.

Acute Disease↗
PubMed2006

Retrospective diagnosis of Kindler syndrome in a 37-year-old man.

Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years.

Adult↗
PubMed1988

Animal models of an acquired pigmentary disorder--vitiligo.

Vitiligo appears to be a complex disorder that involves a melanocyte dysfunction and/or an autoimmune response. Further investigations of the animal models described in this report, and the less well-studied models that exist, is needed to clarify the mechanisms of this disorder. Three additional animal lines which appear potentially to be excellent animal models for vitiligo are: the Barred Plymouth Rock chicken which exhibits periodic degenerating melanocytes presumably due to a cytotoxic agent (Bowers et al, 1986), the White Leghorn chicken which exhibits preprogrammed melanocyte autophagocytosis (Jimbow et al, 1974), and the Duroc pig which exhibits spontaneous tumor regression and depigmentation (Hordinsky, personal communication). These numerous animal studies must be undertaken with the understanding that the specific etiologies and characteristics differ among these animal models and that each model represents only a facet of the complex condition, vitiligo. To unravel the complexity of this syndrome, the insightful correlation of the results of many investigators working with multiple model systems is required.

Animals↗
PubMed1985

The late appearance of hypopigmented maculae in tuberous sclerosis.

Tuberous sclerosis (TS) is a dominantly inherited disorder characterized by seizures, developmental delay, and specific skin lesions. Hypopigmented maculae that occur in 80% of patients with TS have become important for the clinical diagnosis of TS in young children. These lesions are claimed to be present from birth, in contrast with other dermatologic manifestations of TS that usually appear much later. We studied seven children in whom hypopigmented maculae appeared months to years after repeated negative skin examinations. Our findings emphasized that the absence of hypopigmented maculae in young children does not preclude their later appearance nor rule out the diagnosis of TS. The need for repeated skin examinations in infants and children with suspected TS or with seizures and/or mental retardation of unknown cause is apparent.

Child↗