• Gerodermia osteodysplasticum is an autosomal recessive disorder attributed to mutations in GORAB ( SCYL1BP1 ). (medscape.com)
  • Historically, idiopathic lesions of anetoderma were classified clinically as either inflammatory (Jadassohn-Pellizzari type) or non-inflammatory (Schweninger-Buzzi type), although both types of lesions may be found in the same patient. (jcadonline.com)
  • Interestingly, there is no concordance between the clinical and pathological findings in these two groups, as peri-vascular infiltration of inflammatory cells is present in all anetoderma lesions no matter the clinical appearance. (jcadonline.com)
  • Currently, anetoderma is classified as either primary anetoderma, which is an idiopathic occurrence of atrophic lesions in areas of skin that appear normal prior to the onset of atrophy, or secondary anetoderma, which is preceded by an inflammatory, autoimmune, infectious, or neoplastic process. (medscape.com)
  • An imbalance of the elastolytic enzymes and their inhibitors may change the rate of elastin turnover in affected areas, resulting in the visible lesions. (medscape.com)
  • Anetoderma is a rare, benign disorder characterized microscopically by the pan-dermal loss of elastic fibers in the dermis and presenting clinically as circumscribed, skin-colored or grey-white atrophic macules and/or patches on the trunk and/or extremities. (jcadonline.com)
  • Possible explanations for the loss of elastic tissue include defective elastin synthesis, uncontrolled production of elastolytic enzymes, loss of elastolytic enzyme inhibitors, elastophagocytosis, or degeneration of elastic fibers secondary to local ischemia induced by microthromboses in dermal vessels. (medscape.com)
  • This article will review a case of generalized anetoderma in a patient with secondary syphilis after being treated with intravenous penicillin, along with a concise literature review. (jcadonline.com)
  • Thus, the clinical findings in conjunction with microscopic analysis and negative blood examination confirmed a diagnosis of anetoderma in the setting of HIV and secondary syphilis. (jcadonline.com)
  • The exact incidence of anetoderma is unknown, but secondary anetoderma is probably more common than the primary form. (medscape.com)
  • Although the clinical picture is characteristic, a definitive diagnosis requires histological confirmation in order to differentiate this disorder from other conditions of elastolysis, such as cutis laxa and mid-dermal elastolysis. (jcadonline.com)
  • Cutis laxa, or elastolysis, is a rare, inherited or acquired connective-tissue disorder in which the skin becomes inelastic and hangs loosely in folds. (medscape.com)
  • Alternatively, they may act indirectly by modulating other inflammatory events, such as proteolytic activation of latent cytokines, which, in turn, may regulate the activity of other undiscovered elastolytic enzymes. (medscape.com)
  • Anetoderma, first described by Jadassohn in 1892, is a rare cutaneous disorder characterized by localized areas of elastolysis. (jcadonline.com)
  • Anetoderma ( anetos, Greek for slack) is a benign condition with focal loss of dermal elastic tissue, resulting in localized areas of flaccid or herniated saclike skin. (medscape.com)
  • The condition has been reported under various names, including macular atrophy, anetoderma maculosa, and atrophia maculosa cutis. (medscape.com)
  • Secondary APS occurs as the result of autoimmune disorders such as systemic lupus erythematosus (SLE) or rheumatoid arthritis (RA), but also secondary to infections, drugs, or malignancies (Kriseman et al. (medscape.com)
  • Possible explanations for the loss of elastic tissue include defective elastin synthesis, uncontrolled production of elastolytic enzymes, loss of elastolytic enzyme inhibitors, elastophagocytosis, or degeneration of elastic fibers secondary to local ischemia induced by microthromboses in dermal vessels. (medscape.com)
  • Known elastolytic enzyme inhibitors include serine proteinase inhibitors (serpins) and tissue inhibitors of metalloproteinase (TIMPs). (medscape.com)
  • Anetoderma (anetos, Greek for slack) is a benign condition with focal loss of dermal elastic tissue, resulting in localized areas of flaccid or herniated saclike skin. (medscape.com)
  • Furthermore, a 2016 study involving nine patients with idiopathic anetoderma found that the dermal expression of fibulin-4 (which binds tropoelastin and is involved in various aspects of elastic fiber development) was significantly decreased in anetoderma when compared with healthy controls. (medscape.com)