Edit concept Question Editor Create issue ticket

Familial Cutaneous Collagenoma


Presentation

  • Two siblings presented with clinical and histopathological findings of familial cutaneous collagenoma which is a rare connective tissue nevus, inherited in an autosomal-dominant pattern.[ncbi.nlm.nih.gov]
  • The onset of the skin lesions is usually before puberty and they maybe present at birth (Verbov, 1977; Morrison et al., 1977).[docslide.com.br]
  • The Buschke– Ollendorff syndrome presenting as familial elastic tissue naevi. Br J Dermatol 2001; 144:890–3. 17 Hellemans J, Preobrazhenska O, Willaert A et al.[documentslide.com]
  • Isolated collagenoma on the scalp: A rare presentation.[ijtrichology.com]
Congestive Heart Failure
  • heart failure : Congestive Heart Failure occurs when the heart cannot pump adequately to send the blood around the body.[familydiagnosis.com]
  • heart failure Cardiac failure Cardiac failures Heart failure [ more ] 0001635 Percent of people who have these symptoms is not available through HPO Atrial fibrillation Quivering upper heart chambers resulting in irregular heartbeat 0005110 Autosomal[rarediseases.info.nih.gov]
  • The father was known to have had a similar skin lesion and congestive heart failure. The aspects of the clinical presentation of this patient and the findings in the two brothers are discussed.[annals.org]
  • Also, one of the cases reported byHenderson et al. (1968) had idiopathic, progressive myocardiopathy with congestive heart failure anda left bundle branch block.[docslide.com.br]
  • While the tumors themselves are benign, they may cause inflow or outflow obstruction, cardiac arrhythmias, or impair ventricular function and lead to congestive heart failure in 2-5% of individuals with TSC.[clinicaladvisor.com]
Falling
  • Ein Fall von Dermatofibrosis Lenticularis Disseminata und Osteopathia Condensans Disseminata. Derm Wochenschr 1928; 86:257–62. 7 Al Attia HM, Sherif AM.[documentslide.com]
  • . & OLLENDORFF, H. (1928) Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathiacondensans disseminaia. Dermatologische Wochenschrifi, 86, 257.CRAMER, H.J. (1966) Zur Krankheitsbild des sog. 'eruptiven Kollagenoms'.[docslide.com.br]
  • "Ein Fall von Dermatofibrosis lenticularis disseminata and osteopathia condensans disseminata". Derm Wschr. vol. 86. 1928. pp. 257-62.[dermatologyadvisor.com]
Atrial Septal Defect
  • Septal Defect Cardiomyopathy Angina pectoris Skin Nodule Skin benign neoplasm Collagen Diseases Neoplastic diseases Rare genetic skin diseases • • • Back to: « Familial cutaneous collagenoma Disease Articles Congestive heart failure : Congestive Heart[familydiagnosis.com]
  • septal defect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Cardiomyopathy Disease of the heart muscle 0001638 Congestive heart failure Cardiac failure Cardiac[rarediseases.info.nih.gov]
Goiter
  • MEN 2A with cutaneous lichen amyloidosis.. movies starring gary busey &. lyrics for cosmic girl jamiroquai.. hypercortisolemia), thyroid tumors including carcinoma, adenoma or colloid goiters; carcinoid tumors, facial angiofibromas, facial collagenomas[hucety62.pixnet.net]
Collapse
  • MeSH term, type words from the biomedical concept you have in mind here: [transliterated title] And for this query matching the title in original language: [PMID] Show me only articles for these PMIDs (PubMed IDs): [shown] Results per page: [expand/collapse[entityextraction.net]
Regurgitation
  • […] and conditions related to Familial cutaneous collagenoma may include: Congestive heart failure Coronary Artery Disease Hypertrophic cardiomyopathy Hypocalcemia Vasculitis Autosomal dominant inheritance Congenital posterior occipital alopecia Tricuspid regurgitation[familydiagnosis.com]
  • Autosomal dominant inheritance 0000006 Congenital posterior occipital alopecia 0007534 Iris atrophy Iris degeneration 0001089 Primary testicular failure 0008720 Right ventricular cardiomyopathy 0011663 Sensorineural hearing impairment 0000407 Tricuspid regurgitation[rarediseases.info.nih.gov]
  • Abstract A patient with tricuspid regurgitation by clinical evaluation, cardiac catheterization, and angiography was found at autopsy to have a cardiomyopathy involving both ventricles but with predominant involvement of the right ventricle.[annals.org]
Gagging
  • CA, U.S.A.). cDNA was then synthesized using Reverse-iT 1st Strand Synthesis Kit (Abgene, Epsom, U.K.) and PCR-amplified using Taq polymer- ase, Q solution (Qiagen) and exonic intron-crossing primers located in exons 1 and 3, respectively (forward 5 -GAG[documentslide.com]
Hypertension
  • More on Coronary Artery Disease » Hypertrophic cardiomyopathy : Summary : Hypertrophic cardiomyopathy ( HCM ) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions ( hypertension, valve disease[familydiagnosis.com]
  • Another common feature in the patients studied was hypertension.[docslide.com.br]
  • Renal, liver (including portal hypertension), heart,"Sarcoidosis and the Heart". Foundation for Sarcoidosis Research. Accessed 2 Dec 2007. [ ] or brain involvement may cause further symptoms and altered functioning.[findzebra.com]
  • Renal manifestations of TSC – Embolism of renal angiomyolipomas greater than 4cm in size, or those that have hemorrhaged – Dialysis and/or renal transplant for end-stage kidney disease – Pharmacological management of hypertension Cardiac manifestations[clinicaladvisor.com]
Alopecia
  • Other diseases and conditions related to Familial cutaneous collagenoma may include: Congestive heart failure Coronary Artery Disease Hypertrophic cardiomyopathy Hypocalcemia Vasculitis Autosomal dominant inheritance Congenital posterior occipital alopecia[familydiagnosis.com]
  • [ more ] 0001635 Percent of people who have these symptoms is not available through HPO Atrial fibrillation Quivering upper heart chambers resulting in irregular heartbeat 0005110 Autosomal dominant inheritance 0000006 Congenital posterior occipital alopecia[rarediseases.info.nih.gov]
  • K Aroni, E Kyriazi, M Aivaliotis and P Davaris, Familial localized connective tissue nevus of the scalp with alopecia (report of a very unusual case), Journal of the European Academy of Dermatology and Venereology, 18, 3, (340-341), (2004).[doi.org]
  • The fibrous facial plaques of TSC may occur on the scalp, but are not always associated with alopecia, as are nevi sebaceous.[clinicaladvisor.com]
Hearing Impairment
  • More on Iris atrophy » Sensorineural hearing impairment : Summary A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. 7, 8 ... ...[familydiagnosis.com]
  • impairment 0000407 Tricuspid regurgitation 0005180 Vasculitis Inflammation of blood vessel 0002633 Showing of 16 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this[rarediseases.info.nih.gov]
  • . – Waardenburg syndrome (Types I-IV) is also characterized by a white or hypopigmented forelock, varying degrees of hearing impairment, and depigmentation or hypopigmentation of the skin. Hearing impairment is not a characteristic feature of TSC.[clinicaladvisor.com]

Workup

  • Prior workup of this patient had included plain films of the long bones and hands, which were within normal limits.[ncbi.nlm.nih.gov]
  • Early recognition of BOS can help the clinician and patient avoid an unnecessary, costly, and potentially painful workup for other more worrisome conditions.[dermatologyadvisor.com]

Treatment

  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • […] condition, does not require treatment.[ozarkderm.com]
  • Treatment Options ANGIOFIBROMAS Medical options: – Topical: No FDA-approved topical treatment currently available.[clinicaladvisor.com]

Prognosis

  • The combination of erythema nodosum, bilateral hilar lymphadenopathy, and arthralgia is called Löfgren syndrome; it has a relatively good prognosis. Renal, liver (including portal hypertension), heart,"Sarcoidosis and the Heart".[findzebra.com]
  • These individuals have both polycystic kidney disease and TSC and, understandably, their renal prognosis is much less favorable than that of individuals who have TSC.[clinicaladvisor.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • The etiology of Hunter syndrome is the lack of iduronate sulfatase, leading to the accumulation of the mucopolysaccharides dermatan sulfate and heparan sulfate.[emedicine.medscape.com]
  • The etiology of Hunter syndrome is the lack of iduronate sulfatase, leading to the accumulation of the mucopolysaccharides dermatan sulfate and heparan sulfate..[dermaamin.com]
  • A fibroproliferative disorder of unknown etiology Hautarzt 53:515 523 PubMed CrossRef Google Scholar Boehncke WH, Kaufmann R, Weber L, Sterry W (1993) Osteoma cutis.[link.springer.com]
  • Etiology Tuberous sclerosis complex is caused by mutations in one of two known tumor suppressor genes, TSC1 and TSC2, located on chromosomes 9q34 and 16p13.3, respectively.[clinicaladvisor.com]

Epidemiology

  • Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 1992; 74:504–6. 6 Buschke A, Ollendorff H. Ein Fall von Dermatofibrosis Lenticularis Disseminata und Osteopathia Condensans Disseminata.[documentslide.com]
Sex distribution
Age distribution

Pathophysiology

  • There should be no systemic complaints attributable to a separate pathophysiologic process. Most patients with BOS will report family members with skin lesions and/or bone lesions.[dermatologyadvisor.com]
  • The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335: 1870, 2005. CrossRef Google Scholar 9. Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J.[link.springer.com]
  • 01605 Phone 508-793-6188 Email vCard Download vCard Institution UMMS - School of Medicine Department Dermatology Institution UMMS - School of Medicine Department Pathology Division Anatomic Pathology Biography Henan Medical University, Henan,, China MS Pathophysiology[profiles.umassmed.edu]
  • Pathophysiology TSC1 and TSC2 function as tumor suppressor genes. TSC1 encodes the protein hamartin while TSC2 encodes the protein tuberin. Together, hamartin and tuberin form a functional complex, referred to as the TSC1/TSC2 complex.[clinicaladvisor.com]

Prevention

  • - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis[medicbind.com]
  • The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer.[gulfdoctor.net]
  • Coordinated clinical research projects on stroke prevention, Parkinson ’s disease and Alzheimer ’s disease. Supervised research assistants and directed data collection. Maintained drug accountability records for Federal Drug Administration.[drjaffe.yourmd.com]
  • This suggests that at least some manifestations of TSC are due to other factors such as haploinsufficiency (i.e. a single functioning copy of the TSC1 or TSC2 gene in every cell is not sufficient to prevent disease) or modifier genes.[clinicaladvisor.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!