Results 91 to 100 of about 5,571 (225)
D-penicillamine induced degenerative dermopathy
D-penicillamine interferes with elastin and collagen metabolism and produces several cutaneous and multi-systemic side-effects. We present two cases of Wilson′s disease who on long-term penicillamine therapy developed drug-induced degenerative dermopathy
Sujay Khandpur+4 more
doaj +1 more source
FUNDAMENTOS: Elastólise pós-inflamatória e cutis laxa são doenças raras, porém só o Estado de Minas Gerais responde por quase um terço dos casos relatados em todo o mundo. Também são escassos os trabalhos com seguimento dos pacientes.
Claudemir Roberto Aguilar+2 more
doaj +1 more source
N-glükosüülimise kaasasündinud defektid: kirjanduse ülevaade ja haigusjuhu kirjeldus [PDF]
Glükosüülimise kaasasündinud defektid on kiiresti kasvav, erinevaid elundisüsteeme haarav ainevahetushaiguste rühm. Glükosüülimine on valkude modifitseerimise protsess, mille tulemusel sünteesitakse glükoproteiin.
Joost, Kairit+3 more
core +2 more sources
A case of acquired cutis laxa is presented for its ...
Sayal S K+3 more
doaj
Cútis laxa granulomatosa: relato de caso Granulomatous slack skin: a case report
A cútis laxa granulomatosa é variante de linfoma T cutâneo com características histopatológicas semelhantes às da micose fungóide, além da presença de infiltrado granulomatoso e perda de fibras elásticas.
Maria do Rosário Ferraz Roberti+1 more
doaj +1 more source
Cutis laxa (CL) is a rare connective tissue disease characterized by a loose, wrinkled, and inelastic skin. Here, we report an unusual presentation in a 15-year-old male patient who is a known patient of CL who presented with bilateral pneumothorax.
Waseem M Hajjar+4 more
doaj +1 more source
APPARENT CUTIS LAXA, MICROCEPHALY, CHD, POLYCYSTIC KIDNEYS, HYPOGENITALISM - A “NEW” SYNDROME [PDF]
Edward T. Bersu+4 more
openalex +1 more source
Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome [PDF]
BACKGROUND: Skin malformations that resembled manifestations of Ehlers-Danlos-Syndrome were described in a variety of domestic animals during the last century as cutis hyperelastica, hyperelastosis cutis, dermatosparaxis, dermal/collagen dysplasia ...
Bleul, Ulrich+4 more
core +3 more sources
Cutis Laxa Arising from Frameshift Mutations in Exon 30 of the Elastin Gene (ELN) [PDF]
Man-Cong Zhang+5 more
openalex +1 more source