Management of acquired primary cicatricial alopecia
Pierre Bouhanna, Eric Bouhanna in The Alopecias, 2015
From a histopathological point of view, LPP is characterized by lichenoid infiltrate focused at the isthmus and the follicular infundibulum, with infundibular hyperkeratosis and underlying hypergranulosis, often sebaceous glands are atrophic or absent, interfol-licular epidermis can be involved, and incontinentia pigmenti should be intense. Dyskeratosis is moderate to prominent. Exocytosis of cells into the epidermis is common. Perieccrine infiltrates are absent, and perivascular infiltrate may be minimal, superficial, and perifollicular. Epidermal and dermal mucin is usually absent (Figure 11.7). In evolved lesions, a destruction of the follicle with foreign body granulomas is observed, and eventually longitudinal and concentric lamellar fibrosis paths corresponding to existing follicles with minimal inflammatory infiltrate are present. In residual lesions, it is often impossible to make a specific diagnosis. In LPP diffuse dermal fibrosis is not observed, the latter being a characteristic change in CDLE.21–23
Haematology
Stephan Strobel, Lewis Spitz, Stephen D. Marks in Great Ormond Street Handbook of Paediatrics, 2019
Clinical manifestations in dyskeratosis congenita (DC) often appear during childhood, although there is a wide age range most likely reflecting the type of mutation causing DC. Skin pigmentation and nail changes (Fig. 11.35) typically appear first with bone marrow failure occuring a number of years later. The clinical complexity of the disease has expanded in recent years to include: idiopathic aplastic anaemia +/– MDS; (ii) idiopathic pulmonary fibrosis; (iii) the Hoyeraal–Hreidarrson syndrome, characterised by microencephaly, cerebellar hypoplasia, growth retardation, enteropathy and immunodeficiency with or without aplastic anaemia; (iv) a presentation overlapping Revesz syndrome or Coats plus, with retinopathy and intracranial calcifications.
Epithelial and fibroepithelial tumors
Eckart Haneke in Histopathology of the NailOnychopathology, 2017
The main differential diagnosis is subungual acantholytic dyskeratotic acanthoma. Nail involvement in dyskeratosis follicularis of Darier exhibits similar changes but much less pronounced.29 Benign familial pemphigus of Hailey-Hailey commonly causes whitish longitudinal bands but its histologic appearance is similar if not almost identical to ungual Darier's disease. In the publication on subungual warty dyskeratoma, subungual focal acantholytic dyskeratosis was interpreted as another case of warty dyskeratoma.30
Esophageal lichen planus: towards diagnosis of an underdiagnosed disease
Published in Scandinavian Journal of Gastroenterology, 2019
Franziska Schauer, Carmen Monasterio, Kristin Technau-Hafsi, Johannes Steffen Kern, Adhara Lazaro, Peter Deibert, Peter Hasselblatt, Henning Schwacha, Steffen Heeg, Volker Brass, Armin Küllmer, Arthur Robert Schmidt, Annette Schmitt-Graeff, Wolfgang Kreisel
HP = Histopathologic criteriaDetachment of the epithelium (subepithelial/intraepithelial).Lymphocytic (T-cell) infiltrate (subepithelial, junctional, intraepithelial).Intraepithelial apoptosis (Civatte bodies).Dyskeratosis.Depending on the number and extent of criteria present, histopathologic findings were assessed as: HP0 = negative, HP1 = weak positive, HP2 = positive, HP3 = strongpositive.F = Immunofluorescence criteriaF = Fibrinogen depositions along the basement membrane in DIF.F0 = no visible reaction, F1 = weak positive (some fibrinogen deposits were visible), F2 = positive (fibrinogen deposits were clearly present along the basement membrane).Other depositions like IgG, IgA, or C3 were only described but not included in the grading system.
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations
Published in Ophthalmic Genetics, 2020
Elaine Han, Nimesh A. Patel, Nicolas A. Yannuzzi, Diana M. Laura, Kenneth C. Fan, Catherin I. Negron, Supalert Prakhunhungsit, Willa L. Thorson, Audina M. Berrocal
We present the first report of Coats plus syndrome and dyskeratosis congenita in a single patient. These findings are associated with a novel genetic mutation in the CTC1 gene. Given the phenotypic overlap in conjunction with a common pathway of telomere dysfunction, these two entities may represent a single spectrum of disease. It is possible that previously reported patients with dyskeratosis congenita and CTC1 mutations had unidentified retinal vascular disease. Telomeric diseases can involve many systems and require a multidisciplinary approach. Favorable outcomes were achieved with early detection by angiography and treatment with photocoagulation and anti-VEGF, including complete resolution of an exudative retinal detachment. The phenotype in our patient, and others described, with partial features of dyskeratosis congenita and Coats plus syndrome suggests that patients with dyskeratosis congenita or CTC1 mutations should undergo careful eye examinations including fluorescein angiography to identify abnormalities early on and prevent vision loss.
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].