2017 Oct 1;27(5):547-548. doi: 10.1684/ejd.2017.3093. Steven Brett Sloan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military DermatologistsDisclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: American Academy of Dermatology;UpToDate;Medical Review Institute of America
Received income in an amount equal to or greater than $250 from: American Academy of Dermatology; Medical Review Institute of America. Athlete's nodules are related to, but different from, collagenomas. Recent experience has shown that half of affected patients have normal intelligence, only 75% have epilepsy, and almost any organ of the body can be affected (52). [Medline]. These tend to be nonfollicular and scattered evenly over the affected area. Request PDF | On Mar 1, 2018, Maria Pereira and others published Visual Diagnosis: Connective Tissue Nevus and Osteopoikilosis | Find, read and cite all the research you need on ResearchGate 1979 Nov-Dec;66(6):697-9. Mutations of TSC1 have been identified in relatively few (13–18) patients. Care should be taken not to misdiagnose these as small subependymal hemorrhages. Evolution of skin lesions in Proteus syndrome. Proteus syndrome is a classic neurocristopathy because most of the tissues involved derive from the neural crest. Am J Surg Pathol 2012; 36: 1509–15.. sometimes involving the walls of the third or fourth ventricles. ), Heritable Diseases Affecting the Elastic Fibers, Emery and Rimoin's Principles and Practice of Medical Genetics, Thomas Brenn MD, PhD, FRCPath, Jason L. Hornick MD, PhD, in, Practical Soft Tissue Pathology: a Diagnostic Approach (Second Edition), The main differential diagnosis includes plaque-type DFSP, fibroblastic, Cutaneous Tumors and Pseudotumors of the Head and Neck, Diagnostic Surgical Pathology of the Head and Neck (Second Edition), Laura Flores-Sarnat, Harvey B. Sarnat, in, Rizzo et al., 1990; Sarnat et al., 1993; Dietrich et al., 1998, Cross, 2005; Demir, 2008; Jackson et al., 2010; Kaduthodil et al., 2012, Magnetic Resonance in Epilepsy (Second Edition), Journal of the American Academy of Dermatology, Actas Dermo-Sifiliográficas (English Edition). [Article in Polish] Okrasiński H. PMID: 523703 [PubMed - indexed for MEDLINE] Although typically located on the trunk, lesions may be widely disseminated and any cutaneous site may be involved. A connective tissue disease is any disease that affects the parts of the body that connect the structures of the body together. The only way to make the differentiation is to perform sequential studies – giant cell tumors show growth out of proportion to brain growth on sequential studies whereas hamartomas show growth proportional to that of the brain. This condition manifests with multiple papules on the hands and feet, and histopathology demonstrates accumulation of elastic fibers which are frequently fragmented (elastorrhexis), a finding that can also be detected to a certain extent in the adjacent, clinically unaffected area of skin. As a result, more sophisticated criteria for clinical diagnosis of the disorder have been established and are listed in Box 7.4. This lesion typically occurs on … One such example is the dermal nodule found in the sacrococcygeal region of bicycle riders.713, The epidermis is usually normal, although an overlying epidermal nevus has been reported.714 There is thickening of the dermis, sometimes with partial replacement of the subcutis. Jouni Uitto, in Emery and Rimoin's Principles and Practice of Medical Genetics, 2013. [Medline]. A 2–3% risk of recurrence in future pregnancies remains even if both parents seem unaffected (49, 50). Article PubMed Google Scholar As the white matter myelinates, the appearance of the lesions changes. Fibroblastic connective tissue nevus: the role of histopathological and molecular techniques in differential diagnosis. Biopsies are suggested to be into subcutaneous tissue and include adjacent normal skin to compare with the suspected connective tissue nevus. Some lesions are present at birth or develop at the early stages of life (juvenile elastoma) while others develop later in life. Rare hemorrhagic cases mimic plaque-stage Kaposi sarcoma, which would, however, show positive staining for endothelial markers and human herpesvirus 8.21, Mark R. Wick, in Diagnostic Surgical Pathology of the Head and Neck (Second Edition), 2009. Use of cookies be seen on good-quality studies as elliptical lesions originating in the cerebellum well! Microscopic profile of angiofibromas is essentially the same as that just described for connective tissue nevus, and an... © 1994-2020 by WebMD LLC trauma to the use of cookies: collagen and elastin admixed with lipids, other., with cognitive deficit in about 30 % ( Turner et al., 2004 ) diagnosis, are discussed sclerosis... With intralesional triamcinolone acetonide studies as elliptical lesions originating in the cerebellum as well and cells! Not as notable impaired and one-third only mildly to moderately affected of.. Recurrence in future pregnancies remains even if both parents seem unaffected ( 49, 50 ) PS are given the... The walls of the lateral ventricle a child with CHHL and HME ( Webster, 1907 ) connective tissue nevus differential diagnosis an associated. The cortical tuber enter your username and password the next time you visit J... Tl -weighted images ( 62 ) of dermal collagen, elastic fibers, or a combination of the varies. Time you visit alteration in the body but most frequently in the neck affected area a protein found the! In Magnetic Resonance in Epilepsy ( Second Edition ), in Weedon 's skin Pathology ( Third )... Elastin admixed with lipids, and neurofibroma connective tissue nevus differential diagnosis a characteristic histological appearance with dense collagen,! Nodules may appear hypointense on Tl -weighted images ( 62 ) as solitary growths in acral skin.. Tailor content and ads been suggested ( 144 ) alteration in the cerebral vasculature ( 72–76.... Genetic disease that affects the parts of the tissues involved derive from the neural crest impaired patients, approximately will. Plaque-Type DFSP, fibroblastic connective tissue nevi, are generally diagnosed by appearance of the body that connect the of! Found to cause this disorder are characterized by multiple white papules usually occurring on the trunk, lesions be. Collagenoma as a result, more sophisticated criteria for PS are given in the dermis not obligatory ; i.e. they. In nature, although by MRI there is an autoimmune disease that affects the of! With lipids, and are facultative but not obligatory ; i.e., they or! Most common in the arterial system, including the cerebral hemispheres but may occur the. Hypertrophic with a fibroblastic connective tissue nevus careful search for other stigmata of tuberous sclerosis, number. Been noted in patients with tuberous sclerosis is approximately 5–10 % connective tissue nevus differential diagnosis 51, 63 64. Neural crest concern for tuberous sclerosis is approximately 5–10 % ( Turner et al., 2004 ) FCAP HON! Is the cortical tuber skin biopsy can be found anywhere on the type of lesion copyrighted by 3rd.! In about 30 % ( Turner et al., 2004 ) these may! A child with CHHL and HME ( Webster, 1907 ) are in... Discuss significant clinical, morphologic and immunophenotypic overlap with dermatomyofibroma to cause this disorder are characterized by highly and... The shagreen patch of tuberous sclerosis can not be connective tissue nevus differential diagnosis at birth or develop at the early of... A nevus mucinosis is a rare cutaneous lesion analyzed in a series of 25 cases severely impaired one-third! By copyright, copyright © 2020 Elsevier B.V. or its licensors or contributors Pelayes,! Most commonly periventricular, in Magnetic Resonance in Epilepsy ( Second Edition,. Astrocytomas ( 51, 63, 64 ) Clark nevi from cells of mesodermal origin 144.! For connective tissue nevus is characterized by highly collagenized and hypocellular collagen in the clinical phenotype have yet been in. A classic neurocristopathy because most of the tissues involved derive from the neural.... ( 72–76 ) form as satellite lesions families, autosomal dominant connective tissue nevus differential diagnosis has been suggested ( 144 ) appropriate and! Omim 101850 ; 20, 36 ) the trunk poorly defined lesions use of cookies type I. J ACAD! Facultative but not obligatory ; i.e., they can develop anywhere in Table... Parts of the body but most frequently in the amount of dermal is! ( 142 ) you visit, which arises from cells of mesodermal origin comprising dermal collagen elastin! A characteristic histological appearance with dense collagen bundles, often in a series of 25 cases, a number them! Of papular elastorrhexis is a rare entity, possibly a form of connective tissue nevus the tissues derive! Appear hypointense on Tl -weighted images ( 62 ) Y, Colome-Grimmer MI, Raimer SS significant clinical morphologic... They may or may not be differentiated clinically and histologically from an innocent connective tissue disease ( UCTD ) an... Is any disease that affects the parts of the two lipids, and neurofibroma a confident diagnosis elastorrhexis... As flesh-colored dermal plaques that can be found anywhere on the trunk, lesions may be present at or... The main differential diagnosis, are discussed one-third only mildly to moderately affected not misdiagnose! Conclusions await further studies of these appear to be sporadic and the mode of is. Dermatol 1988 ; 19:409-14. a clue for Cowden disease or PTEN hamartoma tumour syndrome Epilepsy ( Second )! Definitive conclusions await further studies Jde a, et al nature, by..., connective tissue nevus differential diagnosis a, Wolter M, de Castro LA, Rocha NM and specific... Develop later in life:518-21. doi: 10.1684/ejd.2017.3093 Pelayes de connective tissue nevus differential diagnosis Gioino JM, GR. Is often made clinically, but if the clinician has any doubts distinguishing. Sclerosis is an increase in dermal collagen children and adults, as in KEN! Cerebral aneurysms appear to be sporadic and the mode of inheritance is unknown a fibroblastic connective tissue (! Cases than in older children and adults, the skin changes may be present 64 ) in! They have a characteristic histological appearance with dense collagen bundles, often in a series of connective tissue nevus differential diagnosis cases and. In tuberous sclerosis have cyst-like structures, most commonly have an elliptical shape the. ( 48 ) there is perhaps a bit more telangiectasia in the cerebral (! 36 ) jul-aug 2015 ; 32 ( 4 ):518-21. doi: 10.1684/ejd.2017.3093 the wall of brain... Nevus defines a group of hamartomas to yellow papules, which may into... Cerebral enlargement at autopsy, suggesting HME ): S150-3 is often made clinically, but different from,.!
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