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PubMed1988

Incontinentia pigmenti, a chromosomal instability syndrome, is associated with childhood malignancy.

Incontinentia pigmenti (IP) is a rare hereditary disorder that has recently been classified as a chromosomal instability syndrome. As in Fanconi anemia and ataxia telangiectasia, spontaneous and inducible chromosomal aberrations primarily of the chromatid type are increased in patients with IP. Both Fanconi anemia and ataxia telangiectasia are genetic diseases that predispose to cancer. A case report of an infant with IP and malignancy (rhabdoid tumor of the kidney) is presented, and five previously reported cases of this association are reviewed. The malignancies in all of these cases occurred before age three, whereas malignancy associated with Fanconi anemia and ataxia telangiectasia tends to appear in late childhood or in adulthood. The chromosomal instability seen with IP may increase the risk for malignancy in young children.

Female↗
PubMed2004

Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria.

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder. It is also called "reticulate acropigmentation of Dohi" or "symmetric dyschromatosis of the extremities". The DSH locus has recently been mapped to chromosome 1q21 and pathogenic mutations were identified in the DSRAD gene encoding double-stranded RNA-specific adenosine deaminase in Japanese patients with DSH. We report here two novel point mutations, Q513X(1537C>T) and R916W(2746C>T) in the DSRAD gene identified in two Chinese families, respectively. These data suggest that mutations in DSRAD were also associated with DSH in Chinese. This is the first report on DSRAD as the causative gene of DSH in the Chinese population.

Adenosine Deaminase↗
PubMed2004

Progressive multilayered banded skin in Winchester syndrome.

Winchester syndrome is a rare genetic disorder, one of the inherited osteolysis disorders which are a group of diseases characterized by destruction and resorption of affected bones with consequent skeletal deformities and functional impairment. The syndrome is characterized by dissolution of carpal and tarsal bones with generalized osteoporosis, progressive joint contractures, short stature, peripheral corneal opacities, and coarse facial features, though there is variability within the clinical features. Phenotypic heterogeneity of cutaneous features are also reported to date of diffusely thickened leathery skin, hypertrichosis, patches of hyperpigmented, hypertrichotic leathery skin in annular or linear distribution, widespread acne, subcutaneous nodules, and gingival hypertrophy. We describe widespread progressive multilayered symmetrical restrictive banding of the skin developing in a woman with Winchester syndrome during her mid-twenties.

Abnormalities, Multiple↗
PubMed1981

The nosology of parapsoriasis.

Parapsoriasis is a group of uncommon but not rare disorders that was created in 1902 as part of a now long forgotten scheme to classify all inflammatory dermatoses. This artificial grouping has led to an enormously confused nosology of these disorders, that are, for the most part, otherwise unrelated. The use of a number of different terms at different institutions and by different physicians to denote the same diseases, together with the use of particular, single terms to denote different diseases, has caused much unnecessary confusion. In this review these terms are examined and an attempt is made to propose a new, unambiguous classification. Using this system, physicians with different views regarding which of the parapsoriases constitute distinct entities should have not difficulty communicating, and should have clearer frame of reference within which to work. An attempt is made to evaluate critically which of the parapsoriases are distinct entities and whether one or more of them should be considered an early form of cutaneous lymphoma in light of currently available data.

Atrophy↗
PubMed1977

Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects.

We have studied four unrelated males with a heritable disorder that we term adrenomyeloneuropathy; limited clinical information is available on a fifth case. All had adrenal insufficiency beginning in childhood and developed progressive spastic paraparesis in the third decade. Hypogonadism of variable severity was present in all four cases appropriately examined. Neurologic features included peripheral neuropathy, impotence, and sphincter disturbances. Late manifestations were cerebellar dysfunction in one case and dementia and hemiparesis in another. A family history of adrenal disease or spastic paraparesis was present in two cases and absent in one; in the other two, no family history was available. Although males are predominantly affected, the mode of inheritance is uncertain. Adrenomyeloneuropathy probably represents a clinically and genetically distinct variant of childhood adrenoleukodystrophy.

Addison Disease↗
PubMed1987

Thioredoxin reductase. Role in free radical reduction in different hypopigmentation disorders.

Membrane-associated thioredoxin reductase (TR) has been discovered to reduce free radicals at the surface of the skin. An accurate bioassay for this enzyme has been developed by using a spin-labeled quaternary ammonium salt as a free radical substrate. Enzyme activity has been correlated with the surface area, and units of specific activity have been determined as the sequential decrease in nitroxide radical reduction per 3-mm punch biopsy per ten minutes. The TR activity in a random population of 30 healthy volunteers with different skin types (Fitzpatrick classification I through VI) could be correlated to the skin type. Ten patients with untreated vitiligo, two with piebaldism, three with albinism, and two with postinflammatory leukoderma were examined and the findings were compared with the expected rates for the individuals' skin types. The results from this survey on the human population support our previous molecular experiments on the control of melanin biosynthesis by TR in the epidermis.

Adult↗
PubMed1984

Ocular manifestations of the neurocutaneous syndromes.

Ocular involvement occurs frequently in the disorders known as neurocutaneous syndromes or phakomatoses. Recognition of characteristic eye lesions in the context of related skin and systemic abnormalities may be crucial to making the diagnosis of a neurocutaneous syndrome. Ocular disease in these conditions may be the cause of serious morbidity, leading to blindness or disfigurement, but successful treatment is often possible. All clinicians involved in the care of patients with neurocutaneous syndromes should have some familiarity with their ophthalmologic aspects. This review deals with ocular manifestations of neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, von Hippel-Lindau disease, ataxia telangiectasia, and Bloch-Sulzberger syndrome. Clinical signs and symptoms, differential diagnosis, and natural history are considered in detail, with brief discussion of pathophysiology and management. No specialized knowledge of eye disease in general is presumed.

Ataxia Telangiectasia↗
PubMed1999

Drug-induced nail disorders: incidence, management and prognosis.

A large number of drugs of different classes, ranging from antibacterials to chemotherapeutic agents to psoralens, can be responsible for the development of nail changes. Drug-induced nail changes usually involve several or all 20 nails and appear in temporal correlation with drug intake. Some nail changes are asymptomatic and only cause cosmetic problems, while others cause pain and discomfort and impair manual activities or deambulation. Drug-induced nail abnormalities are usually transitory and disappear with drug withdrawal, but sometimes persist in time. The pathogenesis of the nail changes is usually a toxic effect of the drug on the different nail constituents, but other mechanisms can be involved. Drugs that are well known to produce nail abnormalities include cancer chemotherapeutic agents, psoralens, retinoids, tetracyclines, antimalarials and zidovudine. Arsenic poisoning is also always associated with nail changes that have medico-legal importance. Some drugs taken during pregnancy may impair nail development of the fetus, and nail hypoplasia or other nail dystrophies will be evident in the newborn.

Female↗
PubMed2005

Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria.

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities. Pathogenic mutations in the DSRAD gene have recently been identified. In this study, we report and identify the mutations of the DSRAD gene in two Chinese pedigrees with DSH. Two novel mutations in the functional domains of the DSRAD gene were identified and verified in two pedigrees. The c.3244A>G (H1075R) mutation was found in all patients but not in the healthy individuals from family A and c.3335_3336delAT (Y1112fs-->1112X) mutation was found in three patients but not in the healthy family members from family B. Our data suggests that these two novel mutations in the DSRAD gene could cause DSH and add new variants to the repertoire of DSRAD mutations in DSH.

Adenosine Deaminase↗
PubMed2005

Botulinum toxin a in the treatment of chromhidrosis.

BACKGROUND: Chromhidrosis is an uncommon disorder characterized by secretion of colored sweat by apocrine glands, typically localized to the face or axilla. The current treatments available for chromhidrosis are time consuming and frequently ineffective. OBJECTIVE: Our purpose is to demonstrate a novel approach to the treatment of apocrine chromhidrosis. METHODS: We report a case of apocrine chromhidrosis successfully treated with botulinum toxin A (BTX-A; Botox). RESULTS: BTX-A therapy successfully controlled facial chromhidrosis, and the effects were visible at 19 weeks post-treatment. The therapeutic benefits may be attributed to its inhibitory effects on cholinergic stimulation, adrenergic stimulation, and substance P release, although further studies are necessary to elucidate the precise mechanism of action. CONCLUSION: This report demonstrates a new therapeutic approach to patients suffering from chromhidrosis.

Adult↗
PubMed1995

Protoporphyric disorder in livers of broiler chickens.

Two cases of protoporphyrin (PP) disorder detected in a 60- and 65-day old female chicken were described. The gross lesions were restricted to the livers which were enlarged and dark green to black in color. Histologically, dark brown granules were found in hepatocytes, Kupffer cells, macrophages, sinusoids, bile canaliculi, and bile ducts. These granules, as seen in smears and sections of livers, were red under a fluorescence microscope and exhibited bright birefringence with a centrally located dark Maltese-cross by polarized light. Ultrastructurally, these granules consisted of aggregates of needle-like crystals in a radial arrangement. Fluorometrically, extracted level of PP in the affected liver was determined to be 390.6 micrograms per gram of wet tissue. Spectrofluorometric scans of liver extract and PP standard were almost identical.

Animals↗
PubMed1995

[Skin symptoms in disorders of vitamin and mineral metabolism].

The daily vitamin intake of the Swiss population seems to be good. In certain situations or population groups a vitamin or mineral salt deficiency is still possible. It seems more useful to show the different changes of the skin, mucous membranes, hair or nails in the various vitamin or mineral salt deficiencies than to enumerate the vitamins. In a first part, skin signs such as seborrhoic-dermatitis-like or acrodermatitis-enteropathica-like changes, perlèches, xeroderma, hyperpigmentation or less frequent skin changes e.g. edema, intertriginous or ichthyosiform lesions, are mentioned. The second portion then shows lesions of the mucous membranes which are seen in different vitamin or mineral salt deficiencies, e.g. glossitis, cheilitis, stomatitis, aphthous ulcers or gingivitis. In a third chapter the consequences on the hair as alopecias or hair shaft alterations are discussed. Finally, in the last section, the possible nail changes as dystrophies or discolorations are mentioned. A table with the functions and the daily recommended doses of the vitamins and some mineral salts is given.

Acrodermatitis↗
PubMed1983

The invisible dermatoses.

It is understandable that clinically normal skin may show abnormalities when examined with the light microscope, but paradoxical that biopsy of a clinically significant skin disorder may show a histologic picture that looks like normal skin. From the perspective of the dermatopathologist, the invisible dermatoses are clinically evident skin diseases that show a histologic picture resembling normal skin. A strategy for approaching the problem of the invisible dermatoses is to first examine the epidermis for fungi, cornoid lamellae (disseminated superficial actinic porokeratosis), and absence of the granular layer (dominant ichthyosis vulgaris). The cutis is then studied for hyalin deposition (macular amyloidosis), mast cells, microfilaria, dermal melanocytosis, silver granules, and absence of sweat glands (anhidrotic ectodermal dysplasia). Special stains may be required to uncover conditions like anetoderma and nevus elasticus. Comparison of the specimen with normal skin may disclose atrophoderma, lipoatrophy, vitiligo, or café au lait spot. Finally, technical problems should be considered, including sampling errors and mixup of specimens, either by the clinician or the laboratory.

Biopsy↗
PubMed1995

Atrophoderma Pasini-Pierini is a primary atrophic abortive morphea.

BACKGROUND: There are divergent opinions whether atrophoderma Pasini-Pierini (APP) is a nosologic entity or a primary atrophic morphea. OBJECTIVE: Since usually single cases are reported without a long-term follow-up the present study was performed in order to elucidate the natural history of the disorder. METHODS: We followed a large series of 139 patients, 91 adults and 48 children, for 4-30 years (mean over 10 years). RESULTS: APP was found to be 6 times more frequent in females and not uncommon in children (10% of our series of localized scleroderma). At some time during the follow-up period, indurations appeared in the central parts of the lesions in 17% of the patients, and in 22% they coexisted with morphea plaques outside the atrophies. The histological pattern was similar to morphea at the stage of atrophy. No case developed full-blown morphea. CONCLUSION: APP appears to be an abortive morphea, in which the indurations failed to develop. The differentiation from morphea is of practical importance because of different management and prognosis.

Adult↗
PubMed1979

[Facial autonomic and trophic disorders].

The paper is concerned with the results of a clinical electrophysiological, biochemical, histochemical, X-ray and morphological study of 289 patients with different vegetovascular and trophical disturbances, mainly of a regional character, in the facial area. Some clinical aspects and questions of the pathogenesis of these disturbances are discussed which are not sufficiently reflected in the literature. It is suggested that the form of the pterygopalatine ganglion is related to the incidence of the pathological process and the traits of vegetative and pain phenomena, accompanying the Sluder syndrome. Vegetovascular changes were revealed in the skin of the face and enzymatic changes in mucous membrane of the nose on the homolateral to the paresis side of the face in lesions of the facial nerve. Specific vegetative trophical changes were also found in a progressive hemiatrophy of the face, Barrakera-Simons disease, in the syndrome of facial hemistrophy due to lesions of the different vegetative and somatic structures of the nervous system.

Body Temperature↗
PubMed2000

Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9.

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary disorder, first reported by Toyama in 1910. It is characterized by a mixture of hypopigmented and hyperpigmented macules of various sizes on the backs of the hands and feet. The disease gene of DSH and its chromosomal localization have not yet been identified. A family with DSH and idiopathic torsion dystonia (ITD), a rare neurological disease, was recently reported. Therefore, we speculated that there was a linkage between the DSH gene and the ITD gene, named DYT1 and localized on chromosome 9, and performed linkage analysis between DSH and microsatellite markers on chromosome 9 in three Japanese DSH families (36 patients in total). We obtained a LOD score of < -2 over the whole region of chromosome 9 encompassing DYT1. Thus, we conclude that there is no linkage between DSH and DYT1 as well as any region of chromosome 9.

Chromosomes, Human, Pair 9↗
PubMed2000

Primary meningeal rhabdomyosarcoma in a child with hypomelanosis of Ito.

Intracranial rhabdomyosarcomas are rare neoplasms, and those thought to be primary meningeal tumors are even more rare. Hypomelanosis of Ito is a neurocutaneous disorder believed to involve a defect in cells of neural crest origin. We report the case of a 15-month-old boy with hypomelanosis of Ito who developed a primary meningeal rhabdomyosarcoma. The patient initially presented with hydrocephalus and 2 months later developed neurologic signs localizing to the spinal cord. Radiologic studies revealed widespread leptomeningeal enhancement with compression of the spinal cord at C5-C7. A brain biopsy revealed a tumor diffusely involving the meninges. Microscopically, the tumor was composed of rhabdomyoblasts, many of which showed prominent cross-striations on routine hematoxylin-eosin staining. To the best of our knowledge, this is the first reported case of meningeal rhabdomyosarcoma in a patient with hypomelanosis of Ito and the fourth reported case of a primary meningeal rhabdomyosarcoma reported in the world literature.

Actins↗
PubMed2005

Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria.

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and dorsal aspects of the extremities that appear in infancy or early childhood. The DSH locus has recently been mapped to chromosome 1q21 and then pathogenic mutations have been identified in the DSRAD gene. In the study reported here we examined the DSRAD gene mutations of a three-generation Chinese pedigree with DSH by direct sequencing. We identified a novel heterozygous nucleotide T-->C transition at position 3388 in exon 14 of the DSRAD gene which induces a C1130R change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH and enriches the knowledge about the function of the DSRAD gene.

Adenosine Deaminase↗