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At least 1,513 records · Page 84Linked to original sources
PubMed1980

Immunofluorescence study in purpura pigmentosa chronica.

Purpura pigmentosa chronica comprises a group of vascular disorders of unknown etiology. In biopsied specimens obtained from 8 patients, we observed vascular changes such as fibrinoid degeneration and occlusive damage occasioned by a hyalinized substance as well as swollen endothelia in 3. However, in all biopsied specimens, direct immunofluorescence studies demonstrated depositions of C3 or C1q with or without immunoglobulins, and of fibrin in papillary vessels. These findings suggest the possibility that immunological processes are involved in producing the histopathologic features of this disorder.

Adult↗
PubMed2006

Minimal residual disease in hypopigmented mycosis fungoides.

We describe the case of a 13-year-old boy with stage I hypopigmented mycosis fungoides in whom minimal residual disease was detected with T-cell receptor gamma-polymerase chain reaction after the disease was in complete clinical remission. We further cloned and sequenced the T-cell receptor gamma-polymerase chain reaction product of the lesion in remission and found that the original T-cell clone still existed in decreased amounts. The patient was followed up for 3 1/2 years without any new lesions developing. The clinical significance of this residual malignant T-cell clone in mycosis fungoides remains to be elucidated.

Adolescent↗
PubMed1993

The morbid cutaneous anatomy of the human genome.

BACKGROUND: The identification of genes whose mutations underlie hereditary diseases has long been a holy grail and one whose satisfaction very recently has become a reality for a surprisingly large number of dermatologic diseases. OBSERVATIONS: This review summarizes in brief the chromosomal localization and, where known, the gene identification for diseases expressed primarily in the skin. These vary from skin cancer genes whose products control cell growth and carry out DNA repair to skin fragility genes whose products impart mechanical stability to the skin. CONCLUSIONS: The explosion of new data in the past several years summarized herein is nearly unprecedented and bodes well for the development of new therapeutic approaches to common as well as rare skin disorders.

Chromosome Fragility↗
PubMed1983

Diabetic maculopathy. A critical review highlighting diffuse macular edema.

Retinal ischemia and edema are the two major intraretinal components of diabetic maculopathy. Focal macular edema is caused by focal leakage from retinal microaneurysms and dilated capillary segments; diffuse edema is caused by leakage from diffusely dilated retinal capillaries throughout the posterior pole. Diffuse macular edema may be exacerbated by systemic factors such as cardiac or renal failure, and hypertension. It is postulated that dysfunction of the retinal pigment epithelial barrier and transport functions might contribute to the problem of diffuse macular edema. Newer techniques of laser grid photocoagulation for diffuse edema have been proposed. It is postulated that photocoagulative debridement of a disordered retinal pigment epithelium could be a mechanism of action of this treatment.

Adolescent↗
PubMed1987

Adrenocortical micronodular dysplasia, cardiac myxomas, lentigines, and spindle cell tumors. Report of a kindred.

In a family encompassing three generations, six of 11 evaluated members have two or three elements of a triad comprising adrenocortical micronodular dysplasia, mucocutaneous lentigines, and cardiac myxomas. Evaluation of the adrenals in affected members revealed characteristic pathologic lesions of micronodular adrenal hyperplasia and corticotropin-independent steroidogenesis that correlated with age, suggesting a progressive lesion that begins in early childhood. Since all subjects with micronodular hyperplasia and/or cardiac myxomas also had mucocutaneous lentigines, the skin lesions were markers for affected subjects. This family is one of the larger reported with this syndrome. Of special note was the finding of rare visceral tumors in affected family members, including melanocytic schwannomas and a fibrolamellar hepatoma, signaling another feature of the syndrome. Since 60% of this family encompassing three contiguous generations were affected, the syndrome appears to be inherited as an autosomal or X-linked dominant gene.

Adolescent↗
PubMed1994

Familial multiple cafe au lait spots.

BACKGROUND: Familial multiple cafe au lait spots (CLS) represent a rare, autosomal dominant pigmentary disorder characterized by the multiple CLS seen in neurofibromatosis type 1 (NF-1) but differing from NF-1 by the absence of neurofibromas and other neural crest tumors. OBSERVATIONS: We describe multiple CLS in 12 patients from three families, each with at least two generations of affected adults. The clinical presentation was consistent within families. In one family, the CLS were accompanied by axillary and inguinal freckling and Lisch nodules. Otherwise, none of the 12 patients had neurofibromas or noncutaneous manifestations of NF-1. CONCLUSIONS: These families provide further evidence that patients may have multiple CLS, with or without axillary freckling or Lisch nodules, and yet not have NF-1. Care must be taken when counseling families with CLS that the diagnosis of NF-1, with its many associated potential problems, is not made erroneously. Studies of the gene mutation(s) of patients with familial multiple CLS are needed to distinguish NF-1 and familial multiple CLS as distinct disorders.

Adult↗