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Pseudoatrophoderma colli: distinct entity or just a variant of confluent and reticular papilomatosis of Gougerot-Carteaud.
Sudy, E, Urbina, F, Gubelin, W, Misad, C, Espinoza, A
Dermatology online journal. 2020;(10)
Abstract
Pseudoatrophoderma colli is a rare entity described in the same time period as confluent and reticular papillomatosis of Gougerot-Carteaud and the two conditions have certain similarities. Pseudoatrophoderma colli is clinically characterized by lesions with an atrophic and wrinkled appearance, which are mainly located on the trunk and neck (hence the name colli). Few references exist in the literature and most of them are very old. Histopathological findings are nonspecific, showing mild hyperkeratosis, thinning of the stratum granulosum, and acanthosis and papillomatosis in some areas. In the papillary dermis there is vascular dilatation with a sparse inflammatory lymphohistiocytic perivascular infiltrate. Fragmentation of elastic tissue has been described only in one case. There is no specific treatment, with variable responses to diverse therapies including ultraviolet light, vitamin A, lactic acid and minocycline. We describe in detail two patients with pseudoatrophoderma colli and show histology. The first patient was treated with minocycline 100mg per day for two months and the second patient was treated with lymecycline 600mg per day for three months and 300mg per day for another two months. Both patients demonstrated a good response within the first month of treatment.
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2.
Calcium may preferentially deposit in areas of elastic tissue damage.
Pugashetti, R, Shinkai, K, Ruben, BS, Grossman, ME, Maldonado, J, Fox, LP
Journal of the American Academy of Dermatology. 2011;(2):296-301
Abstract
BACKGROUND Cutaneous calcification is an acquired disorder whereby insoluble, amorphous calcium salts deposit in the skin. Classically, cutaneous calcification is categorized as metastatic, dystrophic, idiopathic, or iatrogenic. OBJECTIVE The purpose of this study was to further elucidate the underlying pathogenic mechanism for cutaneous calcification. METHODS Three cases of cutaneous calcification, including clinical characteristics and associated histopathology, were reviewed. Previous reports of cutaneous calcification were searched for in the published literature and included. RESULTS Calcium is distributed within areas of underlying tissue damage (ie, locus minoris resistentiae), and in our cases, occurred specifically at sites of chronic actinic damage and intravenous extravasation tissue injury. LIMITATIONS A small number of clinical cases and previously published reports were reviewed. CONCLUSION We hypothesize that cutaneous calcification may preferentially occur at anatomic sites where tissue integrity has been compromised (ie, locus minoris resistentiae). We suggest one potential mechanism: that cutaneous calcification occurs within dermis that contains damaged elastic fibers. Pseudoxanthoma elasticum may serve as a possible genetic disease model for this process.
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3.
Renal transplantation for nephrogenic systemic fibrosis: a case report and review of the literature.
Cuffy, MC, Singh, M, Formica, R, Simmons, E, Abu Alfa, AK, Carlson, K, Girardi, M, Cowper, SE, Kulkarni, S
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2011;(3):1099-101
Abstract
Nephrogenic systemic fibrosis (NSF) is a rare fibrosing disorder described among patients with renal disease. Currently, no standard therapy exists, although therapeutic modalities have included plasmapheresis, extracorporeal photopheresis, sodium thiosulphate, imatinib and renal transplantation. We describe a patient with NSF who was physically debilitated and underwent renal transplantation. After transplantation, the patient's lesions improved clinically, and the patient was ambulatory. Despite developing worsening renal function, her lesions remained unchanged. We conclude that renal transplantation improves symptoms of NSF, and believe that in patients with NSF, careful consideration should be made for early renal transplantation.
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4.
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
Garg, A, Cogulu, O, Ozkinay, F, Onay, H, Agarwal, AK
The Journal of clinical endocrinology and metabolism. 2005;(9):5259-64
Abstract
CONTEXT Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, lipodystrophy, and mottled cutaneous pigmentation. MAD patients with type A lipodystrophy with loss of sc fat from the extremities and normal or slight excess in the neck and truncal regions have been previously reported to carry a homozygous Arg527His mutation in LMNA (Lamin A/C) gene. Among those with type B pattern of lipodystrophy with generalized loss of sc fat, we recently reported a patient carrying compound heterozygous mutations in an endoprotease, zinc metalloproteinase (ZMPSTE24), gene that is involved in posttranslational processing of prelamin A to mature lamin A. OBJECTIVE Our objective was to carry out mutational analysis of LMNA in additional patients with MAD and type A lipodystrophy. DESIGN AND SETTING We studied descriptive case reports at a referral center. PATIENTS Subjects were a male and a female patient with MAD who belonged to two pedigrees from Turkey. MAIN OUTCOME MEASURES We assessed genotype-phenotype relationships. RESULTS We now report that both these patients have a novel homozygous missense mutation (c.1586C-->T; c refers to cDNA reference sequence) in LMNA that replaces a well-conserved residue alanine at position 529 to valine. Intragenic single-nucleotide polymorphisms revealed a common haplotype spanning 2.5 kb around the mutated nucleotide in the parents of both the affected subjects, suggesting ancestral origin of the mutation. The female patient had no breast development despite normal menstruation, a phenotype different from that seen in women with MAD and Arg527His LMNA mutation. CONCLUSIONS We conclude that two homozygous missense LMNA mutations involving the arginine 527 and alanine 529 residues cause MAD with subtle variations in phenotype.
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5.
Calcinosis universalis: a rare diagnosis.
Santili, C, Akkari, M, Waisberg, G, Kessler, C, Alcantara, Td, Delai, PL
Journal of pediatric orthopedics. Part B. 2005;(4):294-8
Abstract
Calcinosis universalis is characterized by the deposit of calcium salts in skin, subcutaneous tissue, tendons and muscles. Most cases become apparent during the first decade of life. Clinical aspects may vary from arthralgia to movement limitation, with calcification of soft tissues. Differential diagnosis should exclude fibrodysplasia ossificans progressive, progressive osseous heterodysplasia, myositis ossificans and dermatopolymyositis. There is no specific treatment, but the use of calcium chelates (EDTA), biphosphonates (disodium etidronate) and steroids are mentioned. This paper presents a review of the literature and adds a new case of calcinosis universalis and its evolution in 28 months, describing laboratory and radiograph findings and suggesting the differential diagnosis among processes of soft tissue calcification.
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6.
[Measures for osteoporosis in the dermatological field--vitamin D3 and bisphosphonate].
Okada, N
Clinical calcium. 2004;(10):145-9
Abstract
Steroid-induced osteoporosis is the most common form of osteoporosis in the dermatological diseases, but there have been only few data concerning the treatment based on clinical evidences. For management of osteoporosis, the efficacy of vitamin D(3) and bisphosphonate had been demonstrated by meta-analytic approach. Ten dermatological patients in our clinic who had received long-term oral steroids and showed bone loss were treated with 5 mg/day of alendronate for one year, and showed significant increase in the bone mineral density of the lumbar spine. In dermatological patients requiring long-term systemic steroids, administration of drugs such as vitamin D(3) or bisphosphonate should be started earlier.
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7.
Necrobiotic xanthogranuloma without periorbital involvement: an ultrastructural investigation.
Betts, CM, Pasquinelli, G, Costa, AM, Fanti, PA, Misciali, C, Varotti, C
Ultrastructural pathology. 2001;(6):437-44
Abstract
A case of necrobiotic xanthogranuloma without typical periorbital involvement is described at the ultrastructural level. The patient, a 58-year-old Italian man, presented in 1995 with a brief history of nodulo-papular lesions commencing on the lower limbs, and mild paraproteinemia. During 6 years of follow-up, anemia, neutropenia with marked lymphopenia, and increased ESR were found, while serum cholesterol and triglyceride levels decreased from hyper to hypo values. Systemic diseases, such as diabetes, malignancy, or extracutaneous lesions, often associated with NXG, have not developed. Conventional histology was distinctive for NXG, and immunohistochemistry confirmed that dermal histiocytes were not of Langerhans cell lineage. At ultrastructure, regeneration and degeneration ("regen-degen") features were observed in some individual deep dermal histiocytes, which have not been previously documented in the literature. Identification of giant histiocytes showing 'regen-degen'' aspects might prove to be a useful ultrastructural diagnostic marker for NXG.