keyword
MENU ▼
Read by QxMD icon Read
search

Genodermatosis

keyword
https://www.readbyqxmd.com/read/28796338/benign-and-malignant-hybrid-adnexal-tumors-in-a-patient-with-epidermodysplasia-verruciformis
#1
Jonathan Ho, Sarah A Kam, Ali Al-Haseni, Alina Markova, Debjani Sahni, Christina Lam, Lynne J Goldberg, Jag Bhawan
Epidermodysplasia verruciformis (EV) is a genodermatosis characterized by overgrowth of flat warts, pityriasis versicolor-like lesions and an increased propensity for developing cutaneous squamous cell carcinomas due to abnormal susceptibility to infection with beta-human papilloma viruses. Adnexal tumors are not typically associated with EV. Here we report a spectrum of hybrid adnexal tumors with divergent eccrine and folliculosebaceous differentiation, and cytologic features ranging from benign to frankly atypical, in a patient with inherited EV...
August 10, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28791733/incontinentia-pigmenti-in-a-male-xy-infant-with-long-term-follow-up-over-8-years
#2
Yasushi Matsuzaki, Akiko Rokunohe, Satoko Minakawa, Kazuo Nomura, Hajime Nakano, Etsuro Ito, Daisuke Sawamura
Incontinentia pigmenti (IP) is an X-linked genodermatosis affecting the skin and other sites, including the teeth, nails, hair, eyes and nervous system defects in female patients. Generally lethal in males, there are only a few known cases of males surviving this condition. Nuclear factor (NF)-κB essential modulator (NEMO), also known as inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG), constitutes an essential activator of NF-κB. Over 80% of female patients with IP carry a common deletion mutation involving exons 4-10 of the IKBKG/NEMO gene...
August 9, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28749546/familial-progressive-hyperpigmentation-a-family-resurvey-and-ultrastructural-skin-investigation
#3
Tingmei Wang, Hongwen Li, Yingying Dong, Man Hu, Qiuyun She, Yunhua Deng
Familial progressive hyperpigmentation (FPH) is an autosomal dominant genodermatosis characterized by hyperpigmented patches that increase in size and number with age. Since its initial description in an African-American family in 1971, only a few cases of FPH have been documented. A three-generation family with FPH in central China has also been reported. Here, we resurveyed that Chinese FPH family for a few unusual features including delayed age of onset and non-involvement of ocular and oral mucosae. Electron microscopic examination of skin from the proband of the family showed that there were more melanosomes in lesional keratinocytes than in perilesional keratinocytes...
July 27, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28695430/birt-hogg-dub%C3%A3-syndrome-a-review-of-dermatological-manifestations-and-other-symptoms
#4
REVIEW
Yun Tong, Jeremy A Schneider, Alvin B Coda, Tissa R Hata, Philip R Cohen
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genodermatosis with malignant potential characterized by cutaneous and extracutaneous stigmata. Aberrations in the folliculin (FLCN) gene, which is located on chromosome 17, have been discovered in individuals with this condition. Over 150 unique mutations have been identified in BHD. The skin lesions associated with this condition include fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons. Extracutaneous features of the syndrome typically include the lung (spontaneous pneumothorax and cysts) and the kidney (neoplasms)...
July 10, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28686751/muckle-wells-syndrome-in-the-setting-of-basal-cell-nevus-syndrome
#5
Marie Wagener, Joseph W Laskas, Stephen Purcell, Tanya Ermolovich
Muckle-Wells syndrome (MWS) is a rare disorder inherited in an autosomal-dominant fashion that belongs to a group of hereditary periodic fever syndromes. It specifically belongs to the cryopyrin-associated periodic syndromes (CAPSs) in which there is a mutation in the NLRP3 (NLR family pyrin domain containing 3) gene that leads to overproduction of IL-1β, the source of the multisystem inflammatory symptoms. Muckle-Wells syndrome is characterized by a recurrent urticarial eruption that is associated with episodic fever, myalgia, arthralgia, malaise, progressive sensorineural hearing loss, and amyloid nephropathy (the most severe complication)...
June 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28685839/lipoid-proteinosis-a-case-with-distinct-histopathological-and-radiological-findings
#6
B K Brar, S Jain, S K Brar
Lipoid proteinosis is a rare inherited genodermatosis characterized by hyaline deposits in various tissues. Clinically, it manifests with cutaneous as well as extracutaneous features. PAS reactive hyaline deposits in the upper dermis, with localization around blood vessels and eccrine sweat glands, in particular, is the histopathological hallmark finding. On brain imaging, bilateral symmetrical temporal lobe calcifications are considered to be pathognomonic of this disorder. We report a case of lipoid proteinosis in which hyaline deposits were present in the papillary and reticular dermis, without being seen at the periphery of eccrine sweat glands, along with dystrophic calcification...
July 7, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28646613/novel-tmc8-splice-site-mutation-in-epidermodysplasia-verruciformis-and-review-of-hpv-infections-in-patients-with-the-disease
#7
E Imahorn, Z Yüksel, I Spoerri, G Gürel, C Imhof, Z N Saraçoğlu, A E Koku Aksu, P L Rady, S K Tyring, W Kempf, P H Itin, B Burger
BACKGROUND: Epidermodysplasia verruciformis (EV) is a genodermatosis leading to infections with cutaneous HPV, persistent plane warts and a high rate of non-melanoma skin cancer (NMSC). Biallelic loss-of-function mutations in TMC6 and TMC8 are known to be causative. OBJECTIVE: The aim of this study was to report EV-causing mutations in four patients with EV and to give an overview of all described EV patients. PATIENTS AND METHODS: We investigated four patients with classical features of EV from two families...
June 24, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28646612/dowling-degos-disease-with-mutation-in-the-exon-1-of-the-keratin-5-gene
#8
Wanting Yu, Lu Gan, Jianbing Wu, Jianfang Sun, Yiqun Jiang
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterised by acquired hyperpigmentation in a reticulate pattern, particularly affecting the flexural areas and other major skin folds. Mutations in KRT5, POFUT1 and POGLUT1 genes have been identified as causative genetic defects(1,2,3) . We report a new mutation in KRT5 in a sporadic Chinese patient with classical features of DDD. The patient, a 54-year-old man presented a 10-year history of progressively prutitic reticulated hyperpigmented macules in the flexural areas...
June 24, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28641957/kindler-syndrome-complicated-by-invasive-squamous-cell-carcinoma-of-the-palate
#9
H Souldi, M Y Bajja, M Mahtar
INTRODUCTION: Kindler syndrome is a very rare, autosomal recessive genodermatosis characterized by skin fragility and photosensitivity in infancy with progressive poikiloderma. CASE REPORT: We report the case of a young woman with a history of Kindler syndrome predominantly characterized by extensive involvement of the oropharyngeal mucosa. The patient presented with an ulcerative lesion of the palate. Computed tomography and biopsy concluded on unresectable invasive squamous cell carcinoma of the hard palate...
June 19, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28615033/a-novel-frameshift-mutation-in-the-xpc-gene-in-a-moroccan-patient-a-case-report
#10
Yassamine Doubaj, Wiam Smaili, Fatima-Zahra Laarabi, Abdelaziz Sefiani
BACKGROUND: Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Based on the result of many studies, xeroderma pigmentosum complementation group C is the most common form of xeroderma pigmentosum. A founder mutation in the XPC gene was reported in the Maghreb region of northern Africa...
June 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28554179/skin-dominant-phenotype-in-a-patient-with-h-syndrome-identification-of-a-novel-mutation-in-the-slc29a3-gene
#11
Seçil Vural, Pelin Ertop, Ceren D Durmaz, Hatice Şanlı, Aylin Okçu Heper, Nihal Kundakçı, Halil G Karabulut, Hatice Ilgın Ruhi
H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28543715/a-novel-nonframeshift-deletion-in-mvk-gene-responsible-for-disseminated-superficial-actinic-porokeratosis-in-one-chinese-family
#12
Chang-Xing Li, Si-Long Sun, Jing-Yao Liang, Yao-Qin Yuan, San-Quan Zhang, Ping-Jiao Chen, Kang Zeng, Xue-Feng Xie, Xi-Bao Zhang
Disseminated superficial actinic porokeratosis (DSAP), a genodermatosis transmitted as an autosomal dominant trait featuring disorder of keratinization, is characterized clinically by annular plaques with an atropic center and hyperkeratotic edges.(1-4) Recently, Zhang et al. (2) reported MVK mutations in 33% familiar and 16% sporadic patients with DSAP by exome sequencing. Here, we report a single novel mutation of MVK, p.Cys161_Arg176del, in a Chinese family suffering from DSAP. This article is protected by copyright...
May 23, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28543709/acral-plexiform-palisaded-encapsulated-neuromas-as-the-initial-cutaneous-manifestation-of-cowden-syndrome
#13
Elizabeth Harris, Adnan Mir
Cowden syndrome (CS) is an autosomal dominant genodermatosis associated with characteristic mucocutaneous findings of facial trichilemmomas, palmoplantar keratoses, sclerotic fibromas, and oral papillomas. Mucocutaneous neuromas have also been reported in association with CS. We describe a patient with CS whose sole cutaneous finding was palisaded encapsulated neuromas (PENs) with a plexiform growth pattern in an acral location. Along with previous reports, this case suggests that acral plexiform PENs may be an early, highly specific finding in CS and highlights the importance of screening these patients for PTEN mutation...
May 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28539984/birt-hogg-dub%C3%A3-syndrome-report-of-two-cases-with-two-new-mutations
#14
Margarida Rato, Ana Filipe Monteiro, Joana Parente, João Aranha, Ermelindo Tavares
INTRODUCTION: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by cutaneous fibrofolliculomas and/or trichodiscomas, lung cysts, spontaneous pneumothorax and renal tumors. However, its clinical expression is highly variable. This syndrome is caused by germline mutations in the folliculin gene (FLCN) on chromosome 17p11.2. MAIN OBSERVATIONS: Two men, 60 and 39-year-old, presented with a several year history of asymptomatic whitish papules scattered over the face and neck...
March 31, 2017: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28537014/usefulness-of-pet-ct-for-early-detection-of-internal-malignancies-in-patients-with-muir-torre-syndrome-report-of-two-cases
#15
Yui Ishiguro, Shigenori Homma, Tadashi Yoshida, Yosuke Ohno, Nobuki Ichikawa, Hideki Kawamura, Hiroo Hata, Satoru Kase, Susumu Ishida, Hiromi Okada-Kanno, Kanako C Hatanaka, Akinobu Taketomi
BACKGROUND: Muir-Torre syndrome (MTS) is a rare autosomal dominant genodermatosis caused by mutations in mismatch repair genes. It is characterized by the presence of at least one sebaceous skin tumor associated with internal malignancies. Whether positron emission tomography/computed tomography (PET/CT) is useful for the detection of malignancies in patients with MTS has not been determined. We herein report two cases in which PET/CT was useful for the diagnosis and follow-up of internal malignancies in patients with MTS...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28502110/a-novel-frameshift-mutation-of-the-adar1-gene-in-a-chinese-patient-with-dyschromatosis-symmetrica-hereditaria-and-the-dermoscopic-features
#16
LETTER
C Chi, Y Luo, J Liu
No abstract text is available yet for this article.
May 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28502085/pathogenicity-of-adar1-mutation-in-a-chinese-family-with-dyschromatosis-symmetrica-hereditaria
#17
S-D Zhang, S-J Feng, K Nh-Tseung, J-J Zhao
Dyschromatosis symmetrica hereditaria (DSH, OMIM 127400) is a rare pigmentary genodermatosis with an autosomal dominant mode of inheritance that is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal regions of the extremities and freckle-like macules on the face. ADAR1 is the corresponding causal gene of DSH.(1) Here, we report a novel heterozygous mutation in the ADAR1 gene in a Chinese family with DSH that may potentially be responsible for the observed clinical presentations, which differ from those previously described...
May 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28496371/dyschromatosis-symmetrica-hereditaria-with-cutaneous-lupus-erythematosus-and-hyperthyroidism
#18
Fahad Al-Saif, Ahmed Alhumidi, Rama Ayed Alhallaf
Dyschromatosis symmetrica hereditaria (DSH) is a rare genodermatosis characterized by various sizes of both hyper- and hypopigmented macules arranged in reticulated patterns on the face and the dorsal aspects of the extremities. There are also cutaneous and extracutaneous abnormalities, but they are rare. As far as we know, DSH associated with immune-mediated conditions has not been reported. We report the first case of DSH, which is associated with cutaneous lupus erythematosus and hyperthyroidism.
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28492007/colchicine-may-assist-in-reducing-granulation-tissue-in-junctional-epidermolysis-bullosa
#19
Minhee Kim, Swaranjali Jain, Adam G Harris, Dedee F Murrell
Epidermolysis bullosa (EB) is a rare, inherited blistering genodermatosis. Patients with junctional EB (JEB) due to LAMB3 mutations have widespread blisters and erosions of skin, mucosae, and nails, creating significant physical, emotional, and psychosocial burdens. Here we report the use of colchicine for ameliorating hypergranulating wounds in a 41-year-old female with JEB generalized intermediate. Her skin wounds and granulation tissue gradually exacerbated under silicone dressings such that she became profoundly anemic...
June 2016: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28439661/comparative-study-of-p16-protein-expression-in-squamous-cell-carcinomas-from-patients-with-epidermodysplasia-verruciformis-and-patients-without-the-disease
#20
Mayra S G Mattos, Walmar R Oliveira, Mirian N Sotto
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with susceptibility to beta-human papilloma virus (HPV) infection. EV patients develop disseminated warts and non-melanoma skin cancer, mainly squamous cell carcinomas (SCC) that are locally aggressive. EV pathogenesis is not yet fully understood, but alterations in the p16 gene play a role in the pathogenesis of neoplasms caused by high-risk genital HPV. To explore its role in EV lesions, we compared p16 expression in SCC from patients with and without EV...
August 2017: Archives of Dermatological Research
keyword
keyword
79688
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"