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Disorders of keratinization and other genodermatoses
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
This is an autosomal dominant disorder due to mutation in the ATP2C1 gene. It is clinically characterized by vesicles, hypertrophic vegetating plaques, and painful erosions over flexures (Figure 15.8). The disease worsens due to heat and sweating. It usually appears in the third to fourth decade of life and as such shows a waxing and waning course. Histopathology shows acantholysis of keratinocytes giving rise to a ‘dilapidated brick wall’ appearance. Dyskeratosis is usually not very prominent.
Dyskeratosis Congenita
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
In dyskeratosis congenita and related telomere biology disorders, mutations in genes that maintain telomere homeostasis in rapidly dividing cells lead to premature cell death, progeria, genomic instability, premature bone marrow failure, and increased risk of solid and hematolymphoid malignancies.
Radiosurgical Techniques
Published in Jeffrey A Sherman, Oral Radiosurgery, 2020
Papillary hyperplasia of the palate is often the result of an ill-fitting denture. Dentures that have a prominent ‘relief’ area on the palate or that are extremely loose will irritate the palatal tissue. These lesions have a high percentage of dyskeratosis and a biopsy is strongly advised.
What is the future of telomere length testing in telomere biology disorders?
Published in Expert Review of Hematology, 2023
The first link between germline defects in telomere biology genes and human disease was made in 1999 when mutations in dyskerin (encoded by DKC1) resulting in very short telomeres were identified as the cause X-linked recessive dyskeratosis congenita (DC) [2,3]. DC, the prototypic TBD, is clinically diagnosed by the presence of the mucocutaneous triad of nail dysplasia, abnormal skin pigmentation, and oral leukoplakia. Patients with DC are at very high risk of bone marrow failure (BMF), acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), head and neck squamous cell carcinoma (SCC), anogenital SCC, pulmonary fibrosis, liver disease, and many other complications. Young children with Hoyeraal-Hreidarsson syndrome, Revesz syndrome, or Coats plus have features of DC and additional other complications. Some individuals may develop only one feature of DC in middle age, such as pulmonary fibrosis or aplastic anemia [4–6].
How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist
Published in Pediatric Hematology and Oncology, 2023
Jutte van der Werff ten Bosch, Eva Hlaváčková, Charlotte Derpoorter, Ute Fischer, Francesco Saettini, Sujal Ghosh, Roula Farah, Delfien Bogaert, Rabea Wagener, Jan Loeffen, Chris M Bacon, Simon Bomken
Data on brain and solid tumors in children with IEI are scarce. DNA repair disorders are the most notorious group of IEI with an increased risk of several childhood cancers including medulloblastoma, glioma, rhabdomyosarcoma, and osteosarcoma.52 CVID patients have a higher incidence of solid tumors, like gastric cancer especially in adults.9 Dyskeratosis congenital predisposes to various solid tumors, including EBV driven disorders.23,53 An increased incidence of non-melanoma skin cancers is seen in DOCK8, EVER1 and EVER2 deficiencies due to chronic cutaneous infections (eg, HPV), cartilage hair hypoplasia, and DNA repair disorders especially xeroderma pigmentosum and Rothmund Thomson syndrome.23,54–56 EBV-associated smooth muscle tumors are also seen in Ataxia Telangiectasia, and GATA2, CARMIL2 and ZAP70 deficiencies.8 Childhood Kaposi sarcoma, caused by human herpes virus-8 infection, is also quite unique to the setting of IEI and has been reported in patients with mutations in WAS, IFNGR1, STIM1, MAGT1, and TNFRSF4.57
Ribosomopathies and cancer: pharmacological implications
Published in Expert Review of Clinical Pharmacology, 2022
Gazmend Temaj, Sarmistha Saha, Shpend Dragusha, Valon Ejupi, Brigitta Buttari, Elisabetta Profumo, Lule Beqa, Luciano Saso
10) Dyskeratosis congenita is a disorder that affects many parts of the body. Three features are characteristic of this disorder: a) fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); b) changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as ‘lacy’; and c) white patches inside the mouth. Individuals with congenital dyskeratosis may develop leukemia, pulmonary fibrosis, eye abnormalities, hair loss, low bone mineralization, and dental problems. They have a higher risk of developing cancer in different body parts [277,278]. In patients affected with this type of disease, mutations in TERT, TERC, DKC1, and TINF2 have been found. hTR and hTER are the main telomerase components produced by TERC and TERT genes, respectively. hTR is an RNA molecule, a chimerical cousin of DNA [279–281].