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Artykuły w czasopismach na temat „Benign Dyskeratosis”

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Data publikacji: 3 czerwca 2025
Data aktualizacji: 31 lipca 2025

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1

Dithmar, S., R. D. Stulting, and H. E. Grossniklaus. "Hereditary benign intraepithelial dyskeratosis." Der Ophthalmologe 95, no. 10 (1998): 684–86. http://dx.doi.org/10.1007/s003470050335.

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Shields, C. L., J. A. Shields, and R. C. Eagle. "Hereditary Benign Intraepithelial Dyskeratosis." Archives of Ophthalmology 105, no. 3 (1987): 422–23. http://dx.doi.org/10.1001/archopht.1987.01060030142045.

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Nair, Nandakumar Gopinathan, and B. M. Athira. "Acantholytic dyskeratotic acanthoma: A rare clinicopathological entity – A case report and review of literature." Journal of Skin and Sexually Transmitted Diseases 2 (October 15, 2020): 115–18. http://dx.doi.org/10.25259/jsstd_20_2020.

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Acantholytic dyskeratotic acanthoma (ADA) is a rare benign condition characterized by circumscribed epidermal proliferation displaying both acantholysis and dyskeratosis. It is of unknown etiology and pathogenesis. We report a case of ADA of long duration in a 75-year-old female along with a review of literature with special reference to cases reported during the past 10 years.
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4

Al Mahmoud, B., N. Al Hayki, and H. Al Meslamani. "Hereditary Benign Intra-Epithelial Dyskeratosis (HBID)." Qatar Medical Journal 2011, no. 1 (2011): 16. http://dx.doi.org/10.5339/qmj.2011.1.16.

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Baroni, Adone, Marco Palla, Francesco Saverio Aiello, et al. "Hereditary benign intraepithelial dyskeratosis: case report." International Journal of Dermatology 48, no. 6 (2009): 627–29. http://dx.doi.org/10.1111/j.1365-4632.2009.03893.x.

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Jham, Bruno Correia, Ricardo Alves Mesquita, Maria Cássia Ferreira Aguiar, and Maria Auxiliadora Vieira Carmo. "Hereditary benign intraepithelial dyskeratosis: a new case?" Journal of Oral Pathology & Medicine 36, no. 1 (2006): 55–57. http://dx.doi.org/10.1111/j.1600-0714.2006.00456.x.

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Badam, Yashwitha, Vijaya Mohan Rao Avisa, A. Sumalatha, G. Pavan Kumar Reddy, and A. Bhavana. "Sporadic dyskeratosis congenita in a male – A case report." IP Indian Journal of Clinical and Experimental Dermatology 8, no. 1 (2022): 55–56. http://dx.doi.org/10.18231/j.ijced.2022.012.

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Dyskeratosis congenita was first described in 1960 as Zinsser-Engman-Cole syndrome. It is a rare inherited condition with a progressive nature and a tendency to involve multiple systems like pulmonary, gastrointestinal, genitourinary, cerebral, and dental. It has an X-linked recessive (most common) or Autosomal dominant or recessive inheritance with a high male preponderance. The genetic defect lies in the DKC1 gene which encodes for Dyskerin protein. Dyskeratosis congenita patients are at a higher risk of development of malignancies, pulmonary fibrosis and eventually aplastic anemia and bone
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8

Al-Mohammedi, Faisal, Gillian C. de Cannes, and Richard I. Crawford. "Friction-Induced Pagetoid Dyskeratosis." Journal of Cutaneous Medicine and Surgery 17, no. 4 (2013): 250–52. http://dx.doi.org/10.2310/7750.2012.12071.

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Background: Pagetoid dyskeratosis (PD) is characterized by pale cells within the epidermis resembling those of Paget disease. These cells have been seen as an incidental finding in a variety of benign papules most commonly located in intertriginous areas. The lesion is considered a reactive process in which a small proportion of the normal population of keratinocytes is altered. Among the triggers for this lesion, friction has been suggested; however, a direct cause-and-effect relationship has not yet been reported. Results: We confirmed the relationship between PD and friction in a biopsy tak
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9

Cummings, Thomas J., Leslie G. Dodd, Christopher R. Eedes, and Gordon K. Klintworth. "Hereditary Benign Intraepithelial Dyskeratosis: An Evaluation of Diagnostic Cytology." Archives of Pathology & Laboratory Medicine 132, no. 8 (2008): 1325–28. http://dx.doi.org/10.5858/2008-132-1325-hbidae.

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Abstract Context.—Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal dominant disorder characterized by elevated epibulbar and oral plaques and hyperemic conjunctival blood vessels. The condition is predominantly seen in Native Americans belonging to the Haliwa-Saponi tribe located in northeastern North Carolina. Objective.—To determine whether HBID can be diagnosed using cytologic preparations of the conjunctiva, and whether the cytologic findings correlated with the genetic linkage involving a duplication in chromosome 4 (4q35). Design.—Cytologic preparations from conj
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10

Eagle, R. C. "Hereditary Benign Intraepithelial Dyskeratosis: An Evaluation of Diagnostic Cytology." Yearbook of Ophthalmology 2009 (January 2009): 237–38. http://dx.doi.org/10.1016/s0084-392x(09)79019-7.

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11

PERALTA-MAMANI, MARIELA, JÉSSICA DE FÁTIMA SEGANTIN, VANESSA SOARES LARA, et al. "CLINICAL AND HISTOPATHOLOGIC CHARACTERISTICS OF HEREDITARY BENIGN INTRAEPITHELIAL DYSKERATOSIS." Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 130, no. 3 (2020): e153. http://dx.doi.org/10.1016/j.oooo.2020.04.209.

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12

Omahsan, Loubab, Sabah Bazouti, Nassiba Zerrouki, Zizi Nada, and Dikhaye Siham. "Hereditary benign intraepithelial dyskeratosis: Is this the first African case?" Our Dermatology Online 9, no. 3 (2018): 310–11. http://dx.doi.org/10.7241/ourd.20183.22.

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13

Rahmani, N., O. El Jouari, and S. Gallouj. "GROVERS DISEASE: ANALYSIS OF A CASE EXHIBITING SIMILARITIES WITH PEMPHIGUS." International Journal of Advanced Research 12, no. 05 (2024): 216–18. http://dx.doi.org/10.21474/ijar01/18706.

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Grovers disease, also known as benign acantholytic dermatosis or acantholytic dyskeratosis, is a rare dermatosis characterized by a pruritic skin rash on the trunk, arms, and legs. Although the exacr pathogenesis of this disease remains unknown, certain factors such as heat, excessive sweating, sun exposure, and systemic diseases have been implicated in its onset however, it is generally considered to be an inflammatory reaction. Histology of the sample revealed suprabasal acantholysis, which manifested as clefts rather than true blisters, with mild dyskeratosis. These characteristics raised d
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14

Haisley-Royster, Camille A., R. Rand Allingham, Gordon K. Klintworth, and Neil S. Prose. "Hereditary benign intraepithelial dyskeratosis: Report of two cases with prominent oral lesions." Journal of the American Academy of Dermatology 45, no. 4 (2001): 634–36. http://dx.doi.org/10.1067/mjd.2001.116336.

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15

Allingham, R. Rand, Ben Seo, Evadnie Rampersaud, et al. "A Duplication in Chromosome 4q35 Is Associated with Hereditary Benign Intraepithelial Dyskeratosis." American Journal of Human Genetics 68, no. 2 (2001): 491–94. http://dx.doi.org/10.1086/318194.

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16

Shweta, Rai Vijetha, Ananda Vaidya Kuladeepa, and Sukesh. "Hailey-Hailey Disease: A Case Study Report with Review of Literature." International Journal of Health Sciences and Pharmacy (IJHSP) 2, no. 1 (2018): 13–17. https://doi.org/10.5281/zenodo.1214176.

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Hailey-Hailey disease (HHD), also called as familial benign chronic pemphigus, is a rare autosomal dominant blistering skin disease with waxing and waning in its clinical course. It is characterized by the presence of flaccid vesiculo-pustules, crusted erosions or expanding plaques in the areas of friction such as neck, axilla, groins, and perineum. Histopathologically shows suprabasal separations, inconspicuous dyskeratosis, acantholytic cells within the epidermis, giving a dilapidated brick wall appearance. Here we have discussed about the clinical and histopathological features of HHD and v
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17

Baliu-Piqué, C., and P. Iranzo. "Papular Acantholytic Dyskeratosis of the Vulva in a Woman With Benign Familial Pemphigus." Actas Dermo-Sifiliográficas (English Edition) 108, no. 1 (2017): 78–79. http://dx.doi.org/10.1016/j.adengl.2016.11.011.

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18

Yakovlev, Alexey B., and Ivan S. Maximov. "Chronicles of A.I. Pospelov Moscow Society of Dermatovenereologists and Cosmetologists (MSDC was founded on October 4, 1891). Bulletin of the MSDC № 1149." Russian Journal of Skin and Venereal Diseases 25, no. 5 (2023): 419–26. http://dx.doi.org/10.17816/dv112481.

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On October 18, 2022, the 1149th meeting of the A.I. Pospelov Moscow Society of Dermatovenerologists and Cosmetologists (MSDC) took place. The meeting was held in a face-to-face format. There were 128 participants in total. Accepted as a member of the MSDC 53 people.
 Two clinical cases are presented for discussion: trichoadenoma ― a rare benign follicular tumor consisting of strands of epithelial cells and keratinizing cysts embedded in the sclerotic stroma, and Dariers follicular dyskeratosis ― hereditary dermatosis characterized by the formation of follicular hyperkeratotic vegetative p
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19

Pachpande, Priyanka Sanjay, Mandakini S. Mandale, Jyoti D. Bhavthankar, Jayanti G. Humbe, and Poonam Rajendra Zanwar. "Red and white lessions of oral cavity a clinical perspective for diagnosis and treatment." Indian Journal of Pathology and Oncology 10, no. 3 (2023): 233–38. http://dx.doi.org/10.18231/j.ijpo.2023.052.

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The detection of a white and red lesion on the oral mucosa can bring a number of obstacles to the practitioner, since they can range from benign to malignant processes. An important group of ailments characterized by white and red patches of the oral mucosa include infections, traumatic lesions, systemic and local immune-mediated lesions, possibly cancerous disorders, and neoplasms. The oral mucosa is frequently affected with benign white lesions that don't need to be treated. These include birth defects or developmental disorders including Fordyce granules, hereditary benign intraepithelial d
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20

SOLER, V., KN TRAN-VIET, E. ST.GERMAIN, et al. "Whole exome sequencing identifies a mutation for a novel form of hereditary benign intraepithelial dyskeratosis." Acta Ophthalmologica 90 (August 6, 2012): 0. http://dx.doi.org/10.1111/j.1755-3768.2012.t060.x.

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21

Dandar, Rachel, and Albert Y. Cheung. "Regarding Treatment and Features of a Case Series of Patients With Hereditary Benign Intraepithelial Dyskeratosis." Cornea 42, no. 2 (2022): e3-e3. http://dx.doi.org/10.1097/ico.0000000000003173.

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22

Raj, A. Thirumal, Kamran Habib Awan, Shankargouda Patil, Peter Morgan, and Saman Warnakulasuriya. "Oral Warty Dyskeratoma—A Systematic Review of the Literature." Diagnostics 12, no. 5 (2022): 1273. http://dx.doi.org/10.3390/diagnostics12051273.

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Objective: To systematically review the clinicopathological features of oral warty keratoma based on published literature. Materials and Methods: PubMed and Scopus databases were searched for reports of oral warty dyskeratoma. Of the 52 identified articles, only 25 articles (43 cases) satisfied the selection criteria (case report/series in the English language reporting clinicopathologically diagnosed oral warty dyskeratoma/oral focal acantholytic keratosis/oral isolated dyskeratosis follicularis in humans). Risk of bias was assessed using the Joanna Briggs institute critical appraisal checkli
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23

Altarescu, Gheona, Deborah Elstein, Ari Zimran, Talia Eldar Geva, Ephrat Levy Lahad, and Paul Renbaum. "Preimplantation Genetic Diagnosis for Benign Hematological Disorders Combined with HLA Matching and Stem Cells Development." Blood 120, no. 21 (2012): 3167. http://dx.doi.org/10.1182/blood.v120.21.3167.3167.

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Abstract Abstract 3167 Preimplantation genetic diagnosis (PGD) for molecular disorders involves development of disease- and family-specific protocols that allow simultaneous amplification of the mutation with multiple polymorphic markers in single cells. We present the development and results of PGD for 6 non-lethal hematological disorders: dyskeratosis congenita, Gaucher type 1, Fanconi C and A, hemophilia A, and beta thalassemia. For beta thalassemia and Fanconi A we performed combined PGD for the disease and HLA matching since each family had an affected child requiring bone marrow transpla
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24

Silva, Luiz Augusto, and Luiza Conti. "Warty Dyskeratoma with involvement of multiple hair follicles in a dog." Brazilian Journal of Veterinary Pathology 16, no. 1 (2023): 60–63. http://dx.doi.org/10.24070/bjvp.1983-0246.v16i1p60-63.

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The warty dyskeratoma is a neoplasm of follicular origin, with uncommon incidence in veterinary medicine, and benign biological behavior. An excisional biopsy sample was received from a dog, female, Shih Tzu, 12 years old, from the left axillary region. Grossly, after section, green and friable multifocal areas were identified, streaked by solid white areas. Microscopically, the analysis revealed multifocal cystic structures, lined by stratified epithelium, with basal area including villous epithelial projections, toward the dermis, and the luminal region featured acantholysis and dyskeratosis
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25

Kuusisto, Niina, Jaana Hagström, Goran Kurdo, et al. "Differences in Imaging and Histology Between Sinonasal Inverted Papilloma with and Without Squamous Cell Carcinoma." Diagnostics 15, no. 13 (2025): 1645. https://doi.org/10.3390/diagnostics15131645.

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Objectives: Sinonasal inverted papilloma (SNIP) is a rare benign tumor that has potential for malignant transformation, usually into squamous cell carcinoma (SCC). The pre-operative differentiation between SNIP and SNIP-SCC is essential in determining the therapeutic strategy, but it is a challenge, as biopsies may fail to recognize the malignant part of the tumor. Further, a SNIP can also be locally aggressive and thus mimic a malignant tumor. This retrospective study compares the pre-operative differences in computed tomography (CT) and histologic findings between patients with a benign SNIP
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26

Cai, Rongrong, Chaoran Zhang, Rongjia Chen, Yingwen Bi, and Qihua Le. "Clinicopathological Features of a Suspected Case of Hereditary Benign Intraepithelial Dyskeratosis With Bilateral Corneas Involved: A Case Report and Mini Review." Cornea 30, no. 12 (2011): 1481–84. http://dx.doi.org/10.1097/ico.0b013e31820357e2.

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Chernysheva, Olga V., Olga V. Dorokhina, Albina N. Khlebnikova, and Elena V. Selezneva. "Adult-onset of Langerhans cell histiocytosis: a clinical case." Almanac of Clinical Medicine 49, no. 8 (2021): 558–63. http://dx.doi.org/10.18786/2072-0505-2021-49-064.

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Langerhans cell histiocytosis is mainly diagnosed in children, and its manifestation in adult age is quite uncommon. Skin rashes may be non-specific and mimic a number of dermatoses. Therefore, the clinical diagnosis is challenging and as a rule, such patients are misinterpreted and managed for other disorders by a dermatologist for some years.
 We present a clinical case of Langerhans cell histiocytosis with skin involvement in a 35-year female patient, who had been treated by a dermatologist for 2 years for pyoderma, seborrheic dermatitis, and skin fold candidiasis. Taking into account
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28

Jeong, Ho Yoon, and Yong Chan Bae. "Case report of a solitary fibrofolliculoma on the alar rim." Archives of Craniofacial Surgery 22, no. 4 (2021): 214–17. http://dx.doi.org/10.7181/acfs.2021.00276.

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Fibrofolliculoma is a benign tumor characterized by a smooth, dome-shaped papule of size 2–4 mm. Most fibrofolliculomas occur as multiple lesions, and very rarely, they are solitary. Herein, we report a case of solitary fibrofolliculoma found in the alar rim, without the typical characteristics of a fibrofolliculoma. A 42-year-old man visited the hospital with a protruding lesion that had occurred 1 year previously. A mass of size 5× 7 mm was observed on the left alar rim. The tumor was dome-shaped and palpable. The patient did not have any similar lesions elsewhere. No family member was known
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29

Rolles, Benjamin, Alla Bulashevska, Michele Proietti, et al. "Common Variable Immunodeficiency (CVID) in Adults As First Manifestation of (cryptic) Dyskeratosis Congenita." Blood 134, Supplement_1 (2019): 1217. http://dx.doi.org/10.1182/blood-2019-128915.

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Introduction: Dyskeratosis Congenita (DKC) is caused by mutations in genes related to telomere maintenance resulting in prematurely shortened telomeres. Clinically, classical DKC is characterized by mucocutaneous abnormalities, bone marrow failure and other variable features such as lung or liver fibrosis. In adults, mono- or oligosymptomatic DKC is typically presenting with a clinically more heterogeneous and often cryptic picture without classical symptoms of DKC. Data on immunodeficiency as a predominant symptom in DKC patients is limited. The common variable immunodeficiency (CVID) represe
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30

Padilha, Cátia Martins Leite, Mário Lúcio Cordeiro Araújo Junior, and Sergio Augusto Lopes de Souza. "Cytopathologic evaluation of patients submitted to radiotherapy for uterine cervix cancer." Revista da Associação Médica Brasileira 63, no. 4 (2017): 379–85. http://dx.doi.org/10.1590/1806-9282.63.04.379.

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Summary Cervical cancer is an important public health problem. Pap smear is the leading strategy of screening programs for cervical cancer worldwide. However, delayed diagnosis leads to more aggressive and less effective treatments. Patients with uterine cervix malignancies who are referred for radiotherapy have advanced-stage disease, which results in high rates of locoregional recurrence. The use of radiotherapy as a treatment for cervical cancer causes morphological changes in neoplastic and non-neoplastic epithelial cells, as well as in stromal cells, which make it difficult to diagnose th
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31

Newman, M., P. Gerami, J. Guitart, et al. "Histological differentiation of skin toxicity between cetuximab, erlotinib and panitumumab (single ErbB1) and lapatinib (dual ErbB1/2) epidermal growth factor receptor inhibitors." Journal of Clinical Oncology 27, no. 15_suppl (2009): e20617-e20617. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e20617.

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e20617 Background: Epidermal growth factor receptor inhibition by monoclonal antibodies and tyrosine kinase inhibitors has demonstrated activity in solid tumors. However, blockade of EGFR in skin results in disabling skin toxicity that may lead to therapeutic dose modification or interruption. This study compares cutaneous histological alterations among four EGFR inhibitors (EGFRIs): cetuximab (C), erlotinib (E), lapatinib (L) and panitumumab (P). Methods: Punch skin biopsies from patients with papulopustular rash were collected from 8 patients per each EGFRI (n=32). Two dermatopathologists pe
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32

Ko, Christine J., Ronald J. Barr, Antonio Subtil, and Jennifer M. McNiff. "Acantholytic dyskeratotic acanthoma: a variant of a benign keratosis." Journal of Cutaneous Pathology 35, no. 3 (2008): 298–301. http://dx.doi.org/10.1111/j.1600-0560.2007.00799.x.

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33

Giri, Neelam, Irina Maric, Robert Wesley, et al. "Bone Marrow Fibrosis in Patients with Inherited Bone Marrow Failure Syndromes." Blood 114, no. 22 (2009): 3192. http://dx.doi.org/10.1182/blood.v114.22.3192.3192.

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Abstract Abstract 3192 Poster Board III-129 Introduction Bone marrow fibrosis has been reported in many benign and malignant disorders, and it may be associated with a poor prognosis in patients with chronic idiopathic myelofibrosis and adult myelodysplastic syndrome (MDS). There are no data on the incidence or significance of bone marrow fibrosis in patients with the inherited bone marrow failure syndromes (IBMFS), genetic disorders characterized by cytopenias, distinctive clinical features, varied molecular pathways and high risks of MDS and acute myeloid leukemia. We have now studied marrow
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Xu, Keren, Niquelle B. Wadé, Amie E. Hwang, et al. "Whole-Exome Sequencing in Multiplex Families to Identify Novel AYA Classical Hodgkin Lymphoma Predisposition Genes." Blood 138, Supplement 1 (2021): 3499. http://dx.doi.org/10.1182/blood-2021-153247.

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Abstract Background: Hodgkin Lymphoma (HL) is a B-cell malignancy that mainly affects young adults in economically developed countries. Classical HL (cHL) is the most common type, comprising >95% of cases. We demonstrated strong heritability of cHL in adolescents and young adults (AYA) with a high risk to the unaffected co-twins of affected monozygotic (MZ) twins. We and others identified common risk variants by GWAS, and sequencing of familial and sporadic HL patients previously identified rare pathogenic germline variants in genes with varying functions. Few have replicated in other f
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35

Urbani, CE, and R. Betti. "Benign persistent popular acantholytic and dyskeratotic eruption with features of warty dyskeratoma." Australasian Journal of Dermatology 37, no. 4 (1996): 225–26. http://dx.doi.org/10.1111/j.1440-0960.1996.tb01065.x.

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Avcioğlu, Sümeyra Nergız, Sündüz Özlem Altinkaya, Mert Küçük, Hasan Yüksel, Selda Demircan-Sezer, and Gonca Uçar. "Vulvar and Perianal Condyloma Superimposed Inflammatory Linear Verrucous Epidermal Nevus: A Case Report and Review of the Literature." Case Reports in Dermatological Medicine 2013 (2013): 1–3. http://dx.doi.org/10.1155/2013/261574.

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Inflammatory linear verrucous epidermal nevus (ILVEN) is a benign cutaneous hamartoma characterized by intensely erythematous, pruritic, and inflammatory papules that occur as linear bands along the lines of Blaschko. There is a considerable clinical and histological resemblance between ILVEN and linear psoriasis, lichen striatus, linear lichen planus, and invasion of epidermal nevus by psoriasis. The pathogenesis of ILVEN is unknown. It is regarded as a genetic dyskeratotic disease reflecting genetic mosaicism. Here, a case of vulvar and perianal condyloma superimposed ILVEN is presented.
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Shah, Dhyey Nimish, Naisargi S. Patel, Reeza I. Laliwala, Ketuman N. Joshi, and Krina B. Patel. "Porokeratotic eccrine and ostial dermal duct nevus." International Journal of Research in Dermatology 10, no. 6 (2024): 388–90. http://dx.doi.org/10.18203/issn.2455-4529.intjresdermatol20243341.

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Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare benign eccrine nevoid hamartoma with only a few cases reported till date. It is characterized by asymptomatic or mildly pruritic pitted comedone-like papules on palms or soles and keratotic papules and plaques in a linear pattern on the extremities, usually present in childhood. We present here three interesting cases of the same. Diagnosis was confirmed by histopathology which showed parakeratotic columns overlying mature eccrine sweat glands in dermis and dyskeratotic cells of lower epidermis.
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Pe??tereli, H. Elif, ??eyda Karaveli, Sevim ??ztekin, and G??rkan Zorlu. "Benign Persistent Papular Acantholytic and Dyskeratotic Eruption of the Vulva: A Case Report." International Journal of Gynecological Pathology 19, no. 4 (2000): 374–76. http://dx.doi.org/10.1097/00004347-200010000-00013.

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Bergua, Paula, Lluis Puig, Maria-Teresa Fernandez-Figueras, Eulalia Baselga, and Agustin Alomar. "Congenital Acantholytic Dyskeratotic Dermatosis: Localized Darier Disease or Disseminated Benign Papular Acantholytic Dermatosis?" Pediatric Dermatology 20, no. 3 (2003): 262–65. http://dx.doi.org/10.1046/j.1525-1470.2003.20316.x.

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Aalbers, Anna M., Sachiko Kajigaya, Vincent H. J. van der Velden, Marry M. van den Heuvel-Eibrink, Rodrigo T. Calado, and Neal S. Young. "Human Telomere Disease Due to Disruption of the CCAAT Box of the TERC Promoter." Blood 118, no. 21 (2011): 2405. http://dx.doi.org/10.1182/blood.v118.21.2405.2405.

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Abstract Abstract 2405 Telomeres, the structures capping the ends of linear chromosomes, consist of hundreds to thousands of TTAGGG repeats. To prevent critical telomere shortening, highly proliferative cells express telomerase (encoded by TERT), a reverse transcriptase that adds TTAGGG repeats to telomeres, using TERC as its RNA template. Mutations in TERT (resulting in amino acid changes and reduced enzymatic activity), in TERC (resulting in changes in RNA structure and impaired binding to telomerase), or in other components of the telomerase complex lead to accelerated telomere attrition. C
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41

JOOST, TH, V. D. VUZEVSKI, B. TANK, and H. E. MENKE. "Benign persistent papular acantholytic and dyskeratotic eruption: a case report and review of the literature." British Journal of Dermatology 124, no. 1 (1991): 92–95. http://dx.doi.org/10.1111/j.1365-2133.1991.tb03290.x.

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42

Rijzewijk, J. J., H. Groenendal, P. Van Erp, F. W. Bauer, and W. A. Van Vloten. "Cell kinetics in skin disorders with disturbed keratinization." Acta Dermato-Venereologica 72, no. 4 (1992): 256–58. http://dx.doi.org/10.2340/0001555572256258.

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A relatively simple immunohistochemical method was developed and used on cryostat sections. The monoclonal antibody Ki67 was used as marker for actively cycling cells and Pab601 for germinative cells. Counts were expressed as Ki67- or Pab601-positive cells/mm. In order to improve our understanding of the pathogenetic mechanisms in skin disorders with disturbed keratinization we have measured cell kinetic values in dyskeratosis follicularis, pemphigus benigna familiaris chronica, autosomal dominant ichthyosis vulgaris, X-linked recessive ichthyosis, atopic dermatitis and psoriasis and compared
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43

Naraghi, Mona Masoumeh, Azita Nikoo, and Azadeh Goodarzi. "Porokeratotic Eccrine Ostial and Dermal Duct Nevus." Case Reports in Dermatological Medicine 2013 (2013): 1–3. http://dx.doi.org/10.1155/2013/953840.

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PEODDN is a rare benign cutaneous disorder that clinically resembles comedo nevus but favors the palms and soles, where pilosebaceous follicles are absent. Widespread involvement along Blaschko’s lines can also occur. It is a disorder of keratinization involving the intraepidermal eccrine duct (acrosyringium) and is characterized by eccrine hamartoma and cornoid lamellation in pathology. The patient is a 29-year-old man with an 8-year history of pruritic skin lesions on his right lateral ankle. In the pathologic examination, multiple small epidermal invagination with overlying parakeratotic co
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44

Pavenski, Katerina, Jerome M. Teitel, Gloria Lim, Michelle Sholzberg, Michael Kirschfink, and Christoph Licht. "Genotype Phenotype Correlation in Patients with aHUS and Abnormal Genetic Studies: A Single Centre Experience." Blood 124, no. 21 (2014): 4186. http://dx.doi.org/10.1182/blood.v124.21.4186.4186.

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Abstract Background: Atypical HUS is a rare disorder caused by uncontrolled activation of the alternative pathway of complement. It presents with thrombotic microangiopathy (TMA), renal insufficiency and in 20% of cases extrarenal manifestations. Most cases of aHUS result from a genetic defect. Methods: We conducted a retrospective chart review of all adult patients with TMA assessed by our apheresis service between January 1, 2010 and December 31, 2013. Complement genetics studies included screening CFI, CFH, CFB, MCP/CD46, CFHR5, C3 and THBD/CD141 genes and were performed at The Hospital for
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45

Giri, Neelam, Blanche P. Alter, Helkha Peredo-Pinto, et al. "Significance of Bone Marrow Karyotype and Morphology in Patients with Inherited Bone Marrow Failure Syndromes,." Blood 118, no. 21 (2011): 3431. http://dx.doi.org/10.1182/blood.v118.21.3431.3431.

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Abstract Abstract 3431 Recurring clonal cytogenetic abnormalities have been described in patients with Fanconi anemia (FA) and Shwachman-Diamond syndrome (SDS). In FA, gains of 3q and monosomy 7 (−7) imply progression to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML). In SDS, isochromosome 7q and deletion (del) 20q are usually benign. Dyskeratosis congenita (DC) and Diamond-Blackfan anemia (DBA) do not have unique clones. We report here the types and frequencies of cytogenetic clones and their association with morphologic MDS or AML in the major inherited bone marrow failu
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46

Shen, Wenyi, Cassandra M. Hirsch, Bartlomiej P. Przychodzen, et al. "Heterozygous CTC1 Variants in Acquired Bone Marrow Failure." Blood 132, Supplement 1 (2018): 3866. http://dx.doi.org/10.1182/blood-2018-99-115193.

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Abstract Germ line (GL) alterations of telomerase machinery genes may lead to inherited telomeropathies, but recent analysis of large control populations revealed that some of the previously assumed pathologic variants are present in comparable frequencies in healthy individuals. Pathogenic telomerase gene variants can be found, but are rare in idiopathic aplastic anemia (AA) and are associated with excessive telomere attrition. Previously, in a cohort of patients with MDS, pathogenic germ line variants of telomerase genes were very extremely rare. Recently a patient with bone marrow failure a
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47

Lajolo, Carlo, Concetta Cafiero, Egidio Stigliano, Francesca Romana Grippaudo, Pietro Chiurazzi, and Cristina Grippaudo. "Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series." Bioengineering 10, no. 2 (2023): 154. http://dx.doi.org/10.3390/bioengineering10020154.

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Background: White Sponge Nevus (WSN) is a rare benign disorder associated with mutations in genes coding for cytokeratin 4 (KRT4) and 13 (KRT13) characterized by dyskeratotic hyperplasia of mucous membranes. This study was aimed at examining different approaches (cytology, pathology and genetic analysis) to WSN diagnosis. Methods: A series of four patients with asymptomatic white diffuse oral lesions were evaluated and, before performing an incisional biopsy for pathology, an oral brush Thin Prep was collected for exfoliative liquid-based cytology (LBC). DNA for genetic analysis was also obtai
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48

Alsubai, Shtwai, Abdullah Alqahtani, Mohemmed Sha, et al. "Privacy Preserved Cervical Cancer Detection Using Convolutional Neural Networks Applied to Pap Smear Images." Computational and Mathematical Methods in Medicine 2023 (July 8, 2023): 1–8. http://dx.doi.org/10.1155/2023/9676206.

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Image processing has enabled faster and more accurate image classification. It has been of great benefit to the health industry. Manually examining medical images like MRI and X-rays can be very time-consuming, more prone to human error, and way more costly. One such examination is the Pap smear exam, where the cervical cells are examined in laboratory settings to distinguish healthy cervical cells from abnormal cells, thus indicating early signs of cervical cancer. In this paper, we propose a convolutional neural network- (CNN-) based cervical cell classification using the publicly available
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49

Gurnari, Carmelo, Adam Wahida, Simona Pagliuca, et al. "TERT Rare Variants in Myeloid Neoplasia: Lack of Clinical Impact or Role as Risk Alleles." Blood 138, Supplement 1 (2021): 1537. http://dx.doi.org/10.1182/blood-2021-145942.

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Abstract Dyskeratosis congenita is a prototypic inherited telomeropathy. Telomere length (TL) shortening has also been described in aplastic anemia (AA) and attributed in occasional patients to the presence of mostly heterozygous germline alterations in telomerase machinery genes (most commonly in the reverse transcriptase gene, TERT). Among various heterozygous variants described, certain TERT variants associated with shortened TL (e.g. H412Y and A202T) showed later a higher prevalence in general population questioning their pathogenicity and role as risk alleles. Nevertheless, shortened TL h
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50

Trinh, Ngo Binh, Giang Huong Tran, and Hoang Trung Hieu. "Penile porokeratosis mimicking annular lichen planus." Our Dermatology Online 13, no. 1 (2022): 109–10. http://dx.doi.org/10.7241/ourd.20221.30.

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Sir, Porokeratosis is a group of cutaneous diseases presented by epidermal keratinization [1]. Herein, we report the case of a patient with porokeratosis who responded well to carbon dioxide (CO2) laser therapy. A 22-year-old Vietnamese male visited our department with an asymptomatic plaque on the penis present for three months. He denied a family history of similar lesions. A cutaneous examination of the penis revealed an annular, well-circumscribed plaque with slightly raised borders with scales (Fig. 1a). Other mucocutaneous lesions were absent. Fungal microscopy, a rapid plasma reagin (RP
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