نتایج جستجو برای: atrophia maculosa varioliformis cutis

تعداد نتایج: 2604  

Journal: :Journal of Investigative Dermatology 2015

Journal: :Human molecular genetics 2002
Bart Loeys Lionel Van Maldergem Geert Mortier Paul Coucke Sabine Gerniers Jean-Marie Naeyaert Anne De Paepe

Hereditary cutis laxa comprises a heterogeneous group of connective tissue disorders characterized by loose skin and variable systemic involvement. Autosomal dominant and recessive as well as X-linked forms have been described. Some dominant forms are caused by mutations in the elastine gene (ELN). The X-linked form is now classified in the group of copper transport diseases. The genetic defect...

2013
S. K. Venkatesh Gupta Ramana Rao Balaga Suman Kumar Banik

Calcinosis cutis is an uncommon disorder caused by an abnormal deposit of calcium phosphate in the skin in various parts of the body. Four main types of calcinosis cutis have been recognized according to etiology: associated with localized or widespread tissue changes or damage (dystrophic calcification), that associated with an abnormal calcium and phosphorus metabolism (metastatic calcificati...

2009
Derya Alabaz Neslihan Mungan Mehmet Turgut Cemil Dalay

Calcinosis cutis is an uncommon disorder characterized by the progressive deposition of crystals of calcium phosphate (hydroxyapatite) in the skin in various areas of the body. It is classified into four types according to etiology, namely as dystrophic if calcium and phosphorus levels are normal and tissue damage is present, as idiopathic if calcium and phosphorus levels are normal and no tiss...

Journal: :Annals of dermatology 2009
Ki-Heon Jeong Bark-Lynn Lew Woo-Young Sim

Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features as a short stature, round face, obesity, brachydactyly and osteoma cutis. Pseudohypoparathyroidis...

Journal: :Journal of medical genetics 1993
J S Fryburg K E Greer

The case of a neonate with cutaneous lesions consistent with epidermal naevi is presented. In addition to typical epidermal naevi, this baby had an unusual, bullous form of aplasia cutis congenita. Although aplasia cutis has been described as bullous and has been found in association with the epidermal naevus syndrome, both of these occurrences are rare in medical publications. This case illust...

Journal: :Indian pediatrics 2014
Bijay Kumar Meher Pravakar Mishra Pradeep Sivaraj Prasanta Padhan

BACKGROUND Calcinosis cutis is usually seen in long standing and untreated cases of juvenile dermatomyositis. CASE CHARACTERISTICS 7-year-old girl with severe calcinosis cutis who developed cutaneous ulceration, rash and myopathy. OBSERVATION Myopathic changes in EMG, muscle edema in MRI, elevated muscle enzymes and Jo-1 positive antibodies. OUTCOME Treatment with prednisolone and methotr...

2017
María Encarnación Gómez Sánchez Maria Luisa Martínez Martínez Jose Luis Agudo Mena Luis Iñiguez De Onzoño Martín

Osteoma cutis or cutaneous ossification is a rare entity characterized by the formation of bone in the skin. We present an isolated primary osteoma cutis located on the palm, an atypical location.

Journal: :Residência Pediátrica 2020

Journal: :Cytogenetic and genome research 2008
C R M da Silva M S González-Elizondo A L Laforga Vanzela

Chromosome numbers in Cyperaceae lower than the typical basic number x = 5 have been described for only three species: Rhynchospora tenuis (n = 2), Fimbristylis umbellaris (n = 3) and Eleocharis subarticulata (n = 3). Eleocharis maculosa is recorded here as the fourth species of Cyperaceae that has a chromosome number lower than 2n = 10, with 2n = 8, 7 and 6. The karyotype differentiation in E....

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