Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dermal fibrosis, characterized by collagen accumulation, is the hallmark of several cutaneous diseases. To examine the mechanisms of collagen deposition in fibrotic skin diseases, fibroblast cultures were established from the skin of patients with progressive systemic sclerosis, morphea, scleredema, familial cutaneous collagenoma, connective tissue nevi of the collagen type, or keloids; these patients served as prototypes of fibrotic skin diseases with varying clinical features and potentially different etiologic factors. Collagen production was assayed by the synthesis of [3H]hydroxyproline, and types I and III procollagen messenger RNA (mRNA) levels were determined by dot blot hybridizations using human type I and type III procollagen-specific cDNA probes. The collagen production in fibroblast cultures from the fibrotic diseases was increased up to 6-fold over the controls, and a relatively good correlation between the collagen production and type I collagen mRNA levels was noted. The type I/III procollagen mRNA ratio in control fibroblast cultures was 5.9 +/- 1.6 (mean +/- SD). The corresponding ratio in keloid cell culture was markedly increased, while slightly decreased values were noted in the case of morphea and familial cutaneous collagenoma; the values in other cultures were within the normal range. The results suggest that procollagen production in fibroblast cultures derived from fibrotic skin diseases reflects elevated levels of the corresponding procollagen mRNA. The increased mRNA abundance, suggesting pretranslational control, may result from enhanced transcriptional activity of the corresponding gene or alternatively reflects increased stability of the mRNA molecule.
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PMID:Regulation of collagen gene expression in cutaneous diseases with dermal fibrosis: evidence for pretranslational control. 358 56

Accumulation of collagen is the major pathologic feature in a variety of fibrotic processes, including dermal fibrosis in progressive systemic sclerosis, morphea, familial cutaneous collagenoma, connective tissue nevi of the collagen type and in keloids. Recent advances in the biochemistry of collagen have allowed us to define specific levels of collagen biosynthesis and degradation at which a pharmacologic intervention can lead to reduced collagen deposition. In this review, we are discussing the mechanisms of action by some of the therapeutic agents currently in use. We further present some new developments involving amino acids and their analogues which could potentially provide us with novel means to reduce the excessive accumulation of collagen in dermal fibrotic processes.
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PMID:Inhibition of collagen accumulation in fibrotic processes: review of pharmacologic agents and new approaches with amino acids and their analogues. 704 41

Basal cell carcinoma (BCC) of the plantar surface of the foot is rare, with only 22 previously reported cases. This clinicopathologic study is based on 20 cases of BCC of the plantar surface and plantar-like surfaces from adjacent lower lateral and medial aspects of the foot, submitted to a large podiatric laboratory from 1986 through June 1992 (total specimens for this period = 518,624; total BCC of lower extremities, below knee = 53). There were 15 women and 5 men. The average patient age was 73 years, with a range from 52 to 92 years. The duration of the lesion before diagnosis was 2 months to 12 years, with an average of 2 years. Three patients had a history of trauma. Podiatric clinical diagnoses included BCC (4), SCC (3), soft tissue tumor (2), nevus (1), granuloma (1), keratosis (2), verucca (1), and psoriasis (1). Follow-up information was available on 10 patients; all were free of disease up to 64 months, with an average follow-up of 15.7 months. Three of 20 BCC showed predominant histologic patterns characteristic of fibroepithelioma of Pinkus (FEP). An additional three BCC showed focal or suggestive patterns of FEP. Fourteen tumors showed ordinary BCC histologic patterns. No multicentric-superficial or morphea like BCC were observed. The relatively high incidence of FEP in BCC of the sole correlates with abundant sweat glands and lack of hair follicles on the plantar surface, in accordance with the recent proposal that FEP derives its histologic pattern from the spread of BCC down eccrine ducts, eventually replacing them with solid strands of tumor.
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PMID:Basal cell carcinoma of the sole. 749 75

A case of bandlike melasma on the median line of the forehead of a middle-aged woman is described. It was an atypical case for its clinical shape and distribution. At initial examination, it was diagnosed as linear morphea. Epidermal nevus was another differential diagnosis. Based on the presence of minor protuberance and the absence of atrophy, clinically, and the presence of sebaceous glands and the absence of swelling of collagen fibers, documented histologically, we revised our diagnosis to that of an atypical type of melasma.
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PMID:Bandlike melasma mimicking linear morphea ("en coup de sabre" type). 956 96

To better define the spectrum of neoplastic and inflammatory diseases that affect female breast skin and the nipple-areola complex, we searched an institutional dermatopathology database and identified 500 specimens of female "breast" (from consecutive records accessioned January 2009-March 2011), 143 specimens of "areola," 124 specimens of "nipple" (records from the latter 2 groups were from patients evaluated June 1992-March 2011), and 500 control specimens of "abdomen" (accessioned January 2010-March 2011). Most specimens obtained from breast skin (76%) represented melanocytic or epithelial proliferations (eg, nevi, seborrheic keratoses, and cysts), as did those from the abdomen, whereas many from the nipple (41%) and areola (60%) were of inflammatory dermatoses. A striking finding was eosinophilic spongiosis (ES) in most areola specimens with spongiotic dermatitis (78%); in contrast, ES was identified in 50% and 31% of spongiotic dermatitis specimens from nipple and breast skin, respectively. ES was associated with a clinical diagnosis of dermatitis in all patients except one (who had pemphigus). Metastatic breast cancer was identified in 28 of 767 specimens (4%), including 6 of 124 (5%) from the nipple. Five of 124 specimens from the nipple (4%) and 1 of 143 from the areola (1%) showed Paget disease. All but one patient with Paget disease showed acantholytic features and none had tissue eosinophils. Abnormalities categorized as complications of radiotherapy, including mild fibrosis and vascular ectasias, morphea, and angiosarcoma, constituted a minority of cases. Our data and the literature indicate that few disorders specifically affect breast skin, but the nipple-areola complex should be approached with a different set of diagnostic considerations.
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PMID:Dermatopathology of the female breast. 2359 53

Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis) suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.
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PMID:Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant. 2738 93