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Familial Cylindromatosis

Turban Tumor Syndrome


Presentation

  • A 59-year-old woman presented with an ill-defined left breast mass. She had a personal and family history of dermal cylindromas on the head and face.[ncbi.nlm.nih.gov]
  • The disorder can present with cutaneous adnexal tumors such as cylindromas, trichoepitheliomas, and spiradenomas, and tumors preferably develop in hairy areas of the body such as head and neck.[ncbi.nlm.nih.gov]
  • They can present as a dermal nodule, often with a blue/black appearance. Fig. 2: Spiradenoma Nodular lesion with characteristic blue/black appearance.[currents.plos.org]
  • Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene. Diagn Cytopathol 2015;43(8):654-8.[degruyter.com]
  • The phenotypic diversity from mild type to severe turban tumor is present in the affected family members with CYLD cutaneous syndrome ( Biggs et al., 1995 ; Oiso et al., 2004 ; Rajan et al., 2009 ; Young et al., 2006 ).[intechopen.com]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Shivering
  • Shiver M, Hughes M, Naylor M, McLarney B, Stolle C, Shalin S, Gao L. A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. Clin Exp Dermatol 2015 May 15. doi: 10.1111/ced.12669. 9.[degruyter.com]
Aspiration
  • Fine needle aspiration cytology of cylindroma very closely mimics that of adenoid cystic carcinoma.[ncbi.nlm.nih.gov]
Breast Mass
  • A 59-year-old woman presented with an ill-defined left breast mass. She had a personal and family history of dermal cylindromas on the head and face.[ncbi.nlm.nih.gov]
Dysautonomia
  • Familial dysautonomia is inherited in an autosomal recessive manner and is due to mutation in the IKBKAP gene on chromosome 9q31. Dysautonomia refers to the dysfunction of the autonomic nervous system. Familial dysautonomia is symbolized DYS.[definithing.com]
Uremia
  • […] progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria (decreased ability to concentrate the urine), progressive renal failure and death in uremia[definithing.com]
Sexual Dysfunction
  • Patients may request surgery when tumours are painful, ulcerated, bleeding, unsightly or causing sexual dysfunction 4.[currents.plos.org]

Workup

Hypercholesterolemia
  • The gene for familial eosinophilia, called EOS, has been mapped to chromosome region 5q31-33 containing the cytokine gene cluster which includes the genes for interleukin-3 (IL-3), interleukin-5 (IL-5), and […] Familial hypercholesterolemia Familial hypercholesterolemia[definithing.com]

Treatment

  • CONCLUSIONS: Salicylic acid is a well-tolerated and potential new treatment for cylindromatosis.[ncbi.nlm.nih.gov]
  • 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]
  • 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]
  • An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis. Br J Dermatol 2006;155:182-185. Rajan N, Elliot R, Clewes O, et al.[currents.plos.org]
  • An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis. Br J Dermatol 2006;155:182-5. 14. Gerretsen AL, van der Putte SC, Deenstra W, van Vloten WA.[degruyter.com]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Brooke-Spiegler Syndrome depends upon the severity of the signs and symptoms. Individuals with mild symptoms have better prognosis than those with severe skin presentations.[dovemed.com]
  • […] nests surrounded by a glassy, eosinophilic, acellular material 2x thickness of a basilar cell LM DDx eccrine spiradenoma, basal cell carcinoma Site skin - typically scalp Syndromes familial cylindromatosis, Brook–Spiegler syndrome Prevalence uncommon Prognosis[librepathology.org]

Etiology

  • Familial trichoepitheliomas, Brooke-Spiegler syndrome, and familial cylindromatosis share a genetic etiology – a mutation of the CYLD gene on chromosome 16.[mdedge.com]
  • Incidence Incidence unknown Prevalence Rare (affects Female male (2:1) Etiology and Pathophysiology The short arm of chromosome 9 is known to encode proteins that can arrest the cell cycle by binding CDK4/6.[unboundmedicine.com]
  • (Etiology) The cause of Brooke-Spiegler Syndrome is due to genetic mutations and abnormalities. It is an autosomal dominant condition.[dovemed.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • Can be mistaken for basal cell carcinoma (BCC) or Gorlin syndrome (multiple BCCs) Epidemiology Predominantly occurs in young adults Multiple lesions may occur in children and adolescents with associated autosomal dominant disorders.[unboundmedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • Incidence Incidence unknown Prevalence Rare (affects Female male (2:1) Etiology and Pathophysiology The short arm of chromosome 9 is known to encode proteins that can arrest the cell cycle by binding CDK4/6.[unboundmedicine.com]

Prevention

  • In cell-based assays, salicylate can prevent NF-kappaB activation caused by loss of the cylindromatosis gene, suggesting that salicylic acid application might be a potential treatment for cylindromatosis.[ncbi.nlm.nih.gov]
  • By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way.[ghr.nlm.nih.gov]
  • In the most serious cases, significant reconstructive surgery may be the only treatment option. [1] Unfortunately, there is currently no way to cure or prevent familial cylindromatosis.[rarediseases.info.nih.gov]
  • A recent study shows that the gene that is mutated in familial cylindromatosis represses tumor necrosis factor α (TNF-α) signaling — a finding that may have implications for preventing the disease.[nejm.org]
  • How can Brooke-Spiegler Syndrome be Prevented? Currently, there are no known methods to prevent Brooke-Spiegler Syndrome, since it is a genetic disorder.[dovemed.com]

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