A Late-Diagnosed Case in an 18 Years-Old Female Case Reports in Orthopedic Research Clinical Trials in Orthopaedic Surgery

Cutis Marmorata Telangiectatica Congenita is a very rare birth defect involving cutaneous blood vessels. Of unknown cause, uncertain pathophysiology, unclear epidemiology. Described as a localized, or generalized marbled skin appearance (cutis marmarota), in addition to the skin, it may involve any other body organs, with, or without a wide variety of associated congenital anomalies. Kato van Lohuizen described the first case in 1922. Since then, there have been less than 300 cases reported worldwide to date. We are adding one more case, and the first reported in Libya. Keywords Cutis marmorata, Telangiectasia, Port-wine Stains, Introduction Van Lohuizen Syndrome, or Cutis Marmorata Telangiectatica Congenita. Is a very rare birth defect involving the cutaneous blood vessels, often reported as a benign, congenital disorder of unknown etiology, epidemiology, and pathophysiology. Described as persistent cutaneous telangiectasia, and phlebectasia, these appear as reticulated streaks of the skin capillaries and venules, resulting in a marbled-looking skin (cutis marmarota).[1-3] First described by Kato van Lohuizen, a female Dutch pediatrician, in 1922.[4] Since then, it has been referred to under several names, including, congenital generalized phlebectasia,[5,6] naevus vascularis reticularis, [7] as well as congenital livedo reticularis.[8] Characterized by the presence of erythematous network streaks, without venectasia, which is not responding to local hea ting. It may occur along with port-wine stain,[9] cutaneous ulceration, and atrophy within the affected area, as well as body asymmetry, and may affect any organ, including the eyes, skeleton, kidneys, and the brain.[10-12] Case report We are reporting the first case of CMTC in Libya, in 18 years old girl referred to our clinic for consultation. She had persistent skin disorders in her Rt. upper limb since birth. (Figure 1) References Ozkur, Ezgi, Ilknur Kivanc Altunay, and Tugba Falay Gur. "What is your diagnosis?/Taniniz Nedir?." Turkish Archives of Dermatology and Venereology 54.3 (2020): 122-124. Kienast, A. K., and P. H. Hoeger. "Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria." Clinical and Experimental Dermatology: Clinical dermatology 34.3 (2009): 319-323. Proietti, Ilaria, et al. "Cutis Marmorata Telangiectatica Congenita: A Diagnostic Challenge." Giornale italiano di dermatologia e venereologia: organo ufficiale, Societa italiana di dermatologia e sifilografia

Biography :

Dario Furnari is a clincal manager and Rehab and Health Scientist at the St Magnus Hospital and clinic Spa Manager, Lecturer, Researcher, Consultant Neuroscience at anesthetics. His Research Interests are Neuroscience, Neurophysiology, Rehabilitation, Physical Therapy, Physiotherapy, Exersice physiology. The lines of research on which he worked at the University of Catania, Department of Biotechnology and Biomedical Sciences, section of applied physiology and kinesiology and motion control, have been in the field of neuroscience, in particular in the role of beta-amyloid and glycoprotein F3 in the synaptic plasticity of hippocampal memory of mice and then in Alzheimer's disease; he dealt with behavior and various behavioral tests in mice; of electrophysiology of in vitro slices of hippocampus, stereotaxy and cannulation implantation, administration of drugs and animal welfare.

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