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Multiple Malignant Spiegler Tumors with Brachydactyly and Racket-Nails. Light and Electron Microscopic Study
Abstract
Multiple malignant Spiegler tumors were observed on the scalp of a 67-year-old female patient with brachydactyly and racket-nails affecting all fingers of both hands. The occurrence of similar clinical features in the family of the patient is suggestive of a hereditary disorder. The light and electron microscopical findings are described.
... Further microscopic analyses of the tumors confirmed the presence of "residuum of a pre-existing benign neoplasm" indicative of in situ development of malignancies from the apparently benign lesions. A handful of malignant cases developed in patients with BSS have also been reported by others [30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49]. These malignancies included salivary gland type basal cell adenocarcinoma-like pattern, low-grade (BCAC-LG), and high grade (BCAC-HG), invasive adenocarcinomas (IACs), squamous cell carcinomas (SCCs), anaplastic neoplasms and sarcomatoid (metaplastic) carcinomas [34,[50][51][52][53][54][55][56][57][58][59]. ...
Germline CYLD mutation is associated with the development of a rare inheritable syndrome, called the CYLD cutaneous syndrome. Patients with this syndrome are distinctly presented with multiple tumors in the head and neck region, which can grow in size and number over time. Some of these benign head and neck tumors can turn into malignancies in some individuals. CYLD has been identified to be the only tumor suppressor gene reported to be associated with this syndrome thus far. Here, we summarize all reported CYLD germline mutations associated with this syndrome, as well as the reported paired somatic CYLD mutations of the developed tumors. Interestingly, whole-exome sequencing (WES) studies of multiple cancer types also revealed CYLD mutations in many human malignancies, including head and neck cancers and several epithelial cancers. Currently, the role of CYLD mutations in head and neck carcinogenesis and other cancers is poorly defined. We hope that this timely review of recent findings on CYLD genetics and animal models for oncogenesis can provide important insights into the mechanism of head and neck tumorigenesis.
Electronic supplementary material
The online version of this article (doi:10.1186/s41199-016-0012-y) contains supplementary material, which is available to authorized users.
Many defects of the nails are accompanied by developmental changes in other organs, such as skin, teeth, brain, and bones. Recognition of nail defects may help in the diagnosis of hidden syndromes or more generalized disease. Congenital and hereditary nail dystrophies are classified according to whether the defects occur in the nail matrix, the nail fold, or the nail bed. A defect in the nail matrix is the most common cause of abnormal nails. The matrix can have an abnormal position, size, or quality. Proliferation of the nail bed will produce a thickened nail which, as in pachyonychia congenita, is not evident until early childhood. Mosaic disorders can most easily be studied in the skin and therefore may involve the nail apparatus. Three groups of mosaic nail disorders can be distinguished in the form of ungual hamartomas, diseases reflecting functional X‐chromosome mosaicism, and some particular linear inflammatory skin disorders involving the nail region. In women affected with X‐linked skin disorders, a mosaic involvement of nails may be noted as a result of X‐inactivation (lyonization). Many of these phenotypes are caused by X‐linked, male‐lethal mutations.
The key to accurate diagnosis of nail disease is through recognition and classification of clinically apparent alterations to the normal nail unit. Nail signs are classified as changes in both color and shape in the nail fold, matrix, nail bed, hyponychium, and the nail plate. This chapter on physical signs defines the alterations in normal structure and color, findings that can lead the clinician toward the diagnosis of a nail‐associated systemic disease or a nail sign of a dermatological condition. An accurate diagnosis requires a discerning eye and a systematic nail examination. Criteria are defined for diagnosing such clinically important nail conditions as clubbing, koilonychia, Beau's lines, and onycholysis – nail conditions that are associated with systemic disease. An appreciation for nail changes associated with dermatological conditions as well as tumors and inflammatory changes in the nail unit begins with careful observation.
Multiple cylindromas on the scalp seems to be the most common predisposing factor for the development of a cylindrocarcinoma. The diagnosis of cylindrocarcinoma or spiradenocarcinoma should be suspected when sudden rapid growth occurs in a pre-existing long-standing lesion.
Cylindroma and spiradenoma are two morphological variants of the same neoplasm.
Malignant cutaneous adnexal neoplasms form a group of rare, typically low-grade-malignancy carcinomas with follicular, sebaceous, apocrine, or eccrine differentiation or a combination of the first 3 subtypes. Their clinical presentation is usually unremarkable, and biopsy is required to establish the differentiation subtype and the definitive diagnosis. Due to their rarity, no clear consensus has been reached on which treatment is most effective. Mohs micrographic surgery is considered to be the best option to prevent recurrence in the majority of patients. Radiotherapy and chemotherapy have been studied in very few cases and have rarely been shown to be effective.
Malignant cutaneous adnexal neoplasms form a group of rare, typically low-grade-malignancy carcinomas with follicular, sebaceous, apocrine, or eccrine differentiation or a combination of the first 3 subtypes. Their clinical presentation is usually unremarkable, and biopsy is required to establish the differentiation subtype and the definitive diagnosis. Due to their rarity, no clear consensus has been reached on which treatment is most effective. Mohs micrographic surgery is considered to be the best option to prevent recurrence in the majority of patients. Radiotherapy and chemotherapy have been studied in very few cases and have rarely been shown to be effective.
Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.
In two cases of spiradenoma, studies of enzymatic reactions showed complete absence of glycogen phosphorylase and acid phosphatase enzymes. Irregular foci of succinic dehydrogenase, as well as nicotinamide adenine dinucleotide, reduced (NADH), were observed. The small tumoral nodules were surrounded by nerve fibers, which can be readily demonstrated by techniques using cholinesterase. Study of the ultrastructure of the tumor revealed that it was composed of two main types of cells, but neither secretory granules nor glandular structures could be observed. The results of our study of the spiradenoma, its basic similarity to other tumors of the basaloid type, and its chemical and ultrastructural features suggest that it is a tumor of basal cell differentiation.
A radiographic study was made of the left fifth medial phalanges of 200 Philadelphia Negro and 96 Chinese children. Twelve cases of abnormal shortening of this bone (defined, for the present, as less than half the length of the fourth medial phalanx) were found in the Chinese sample, while none were found in the Negroes. This trait, brachymesophalangy 5, in general seems to be characterized by short but well proportioned diaphyses and cone-shaped epiphyses with very early union. Population surveys reported in the literature indicate that this trait is considerably more common in Mongoloid and American Indian populations than in Whites or Negroes. The mode of inheritance of this genetic trait is uncertain, but present evidence indicates that it may be a simple autosomal recessive.
1. Die Besprechung der Nomenklatur und der im Schrifttum verffentlichten Flle von Spiegler-Geschwlsten erweist die Miverstndlichkeit des von Pathologen und Dermatologen in verschiedenem Sinn gebrauchten, wenig kennzeichnenden und besser zu vermeidenden Begriffes Cylindrome.2. Von zwei eigenen Fllen gehrt der erste zu den klassischen Formen der Spiegler-Geschwlste; der zweite zeigt einige Abweichungen.3. Das Gewebsbild verschiedener Knoten beider Flle lt einen grundstzlich gleichen Bauplan erkennen; die bestehenden Unterschiede berechtigen nicht zu einer Trennung beider Krankheitsbilder.4. Auch ein bergang der einen Form in die andere — entsprechend der aus dem Schrifttum gelufigen Auffassung des Epithelioma adenoides cysticum als einer Durchgangsstufe zur Spiegler-Geschwulst — ist aus dem Gewebsbild nicht zu begrnden. Die morphologische Analogie zum Haarfollikel ist auffllig, die histogenetische Abstammung der Geschwulst von den Haarfollikeln nicht beweisbar.5. Die Spiegler-Geschwlste gehren nach heute gltigem pathologisch-anatomischem Sprachgebrauch in die Gruppe der Basaliome.6. Sichere Flle von spontanem bergang in bsartiges Wachstum sind fr Basaliome vom Typ Spiegler nicht erwiesen. Gleichzeitig vorkommende Parotismischgeschwlste (Fall 1), die maligne entarten knnen, sind zwar Basaliome, haben aber mit den Spiegler-Tumoren nichts zu tun.7. Die Fragen: Vererbung, Entstehungzeit, uere Einflsse, ungewhnliche Lokalisationen, Behandlung werden kurz besprochen.
Several syndromes involving multiple tumors of the skin, such as: Reckling-hausen's neurofibromatosis, Tuberous Sclerosis of Bourneville and Pringle, Brooke's Epithelioma adenoides cysticum and multiple cylindromata of Spiegler, and Basal Cell Nevus Syndrome, are known to be inherited as an autosomal-dominant trait.
In this study the clinical features, histopathology, and genetic data of multiple lipomata, steatocystoma multiplex, multiple cutaneous leiomyomata, multiple glomus tumors, and blue rubberbleb nevus syndrome are reviewed and summarized. The hypothesis of autosomaldominant inheritance in these tumors of the skin is statistically examined by means of the maximum-likelihood procedure. This hypothesis could be confirmed for multiple lipomata, steatocystoma multiplex, and is very probable in the case of multiple leiomyomata and multiple glomus tumors. Data on blue rubber-bleb nevus syndrome are not sufficient at present to give a definite judgement. Available information suggests dominance with almost complete penetrance of the gene.
The fact is stressed that solitary and multiple skin tumors are two basically different entities. The underlying mutational events in the multiple variant are discussed and problems involving frequency, manifestation, and clinical variability of the disorders are presented.
Bericht über einen systematisierten Drüsen-Naevus, kombiniert mit anderen Mißbildungen, und über ein Naevo-Epitheliom, eine Übergangsform von Epithelioma adenoides cysticum zum Zylindrom, das bösartiges Wachstum zeigte, beide sind Einzelfälle der Weltliteratur. Daran anschließend werden offene Fragen der Naevo-Epitheliome wie ihre formale und kausale Genese, die maligne Entartung erörtert und das Verhältnis zwischen Naevo-Epitheliom und analogem Naevus besprochen.
Wie mich Herr Prof. Dr. E. Hoffmann in liebenswürdiger Weise aufmerksam machte, sind die Zylindrome (Spiegler-Tumoren) von ihm bereits 1910 genauest untersucht worden, ebenso alle als Endotheliome bezeichneten sonstigen Fälle, die auf die Hautadnexe zurückgeführt werden können (Dsch. med. Wschr. 1910). Die von Prof. Hoffmann 1910 gemachten und 1912 auf dem VII. Internationalen Dermatologen-Kongreß vorgetragenen Feststellungen wurden von Frieboës unter Leitung von Prof. Hoffmann weiter ausgearbeitet. Die schizogenetische oder Gabelungs-Theorie der epithelialen Hautnaevie und der daraus hervorgehenden Tumoren ist demnach ausschließlich Herrn Prof. Dr. E. Hoffmann zuzuschreiben. Es liegt mir daran, die historische Feststellung nachdrücklichst zu betonen.
Nach einem berblick ber die bisher verffentlichten Flle von Hautcylindromen, deren statistischer Einordnung und deren Vergleich mit den Hautcarcinomen, wird ein Fall maligner Degeneration von Cylindromen des behaarten Kopfes mit Metastasenbildung in inneren Organen und Knochen beschrieben. Durch Silberimprgnierung nach Masson lt sich in den Primrtumoren und in den Metastasen ein Pigment nachwesien, welches in Form, Gre und Frbbarkeit jenem des Stratum basale gleicht. Es wird versucht, den Ausgangspunkt der bsartigen Umwandlung in den Kntchen selbst nachzuweisen. Zur Behandlung wird in erster Linie die chirurgische Entfernung und erst in zweiter Linie die Strahlentherapie empfohlen.
