Witkop Tooth and Nail Syndrome: A Report of Three Cases in a Family

Memarpour, Mahtab; Shafıei, Fereshteh

doi:10.1111/j.1525-1470.2010.01198.x

Cited by 12 publications

(3 citation statements)

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“…Tooth agenesis occurs either as a non‐syndromic (isolated) form, 5 or as part of a complex disorder in a syndromic form 6 ; for example Witkop syndrome, 7 Down syndrome, 8 Axenfeld‐Rieger syndrome, 9 ectodermal dysplasia 10 or cleft lip/palate 11,12 . There are known cases of sporadic absence of teeth, where, except for the proband, there is no history of dental anomalies in the family, 13 as well as various forms of heredity – autosomal dominant, 14 autosomal recessive 15 or X‐linked 16…”

Section: Introductionmentioning

confidence: 99%

Tooth agenesis: What do we know and is there a connection to cancer?

et al. 2021

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Like all developmental processes, odontogenesis is highly complex and dynamically regulated, with hundreds of genes co‐expressed in reciprocal networks. Tooth agenesis (missing one or more/all teeth) is a common human craniofacial anomaly and may be caused by genetic variations and/or environmental factors. Variants in PAX9, MSX1, AXIN2, EDA, EDAR, and WNT10A genes are associated with tooth agenesis. Currently, variants in ATF1, DUSP10, CASC8, IRF6, KDF1, GREM2, LTBP3, and components and regulators of WNT signaling WNT10B, LRP6, DKK, and KREMEN1 are at the forefront of interest. Due to the interconnectedness of the signaling pathways of carcinogenesis and odontogenesis, tooth agenesis could be a suitable marker for early detection of cancer predisposition. Variants in genes associated with tooth agenesis could serve as prognostic or therapeutic targets in cancer. This review aims to summarize existing knowledge of development and clinical genetics of teeth. Concurrently, the review proposes possible approaches for future research in this area, with particular attention to roles in monitoring, early diagnosis and therapy of tumors associated with defective tooth development.

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Section: Introductionmentioning

confidence: 99%

Tooth agenesis: What do we know and is there a connection to cancer?

et al. 2021

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“…Other ectodermal derived structures like mammary glands,thyroid gland, thymus, anterior pituitary, adrenal medulla, central nervous system, external ear, melanocytes, cornea, conjunctiva, lacrimal gland and lacrimal duct that may also be involved in EDs. [4][5][6] Hypohidrotic Ectodermal Dysplasia: Alteration in the gene ectodysplasin causes Christ-Siemens-Touraine syndrome which is the most common form of ectodermal dysplasia. Ectodysplasin is located at Xq12-13, which encodes for a transmembrane protein called ectodysplasin composed of 391 amino acids.…”

Section: Introductionmentioning

confidence: 99%

“…In adult use of implant has been seen but there are no clinical reports of use of the implant in growing children. [3][4][5][6]…”

Section: Introductionmentioning

confidence: 99%

Ectodermal Dysplasia: An Overview

Sruti Prava Panda

2020

Indian Journal of Forensic Medicine & Toxicology

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Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder mainly striking the growth or purpose of the teeth,hair, nails and sweat glands. Ectodermal dysplasia can also affect the skin, the lens or retina of the eye, partsof the inner ear, the growth of fingers and toes, the nerves and other parts of the body providing to thes pecific syndrome. All the syndrome generallyinvolves a different combination of symptoms, which can range from mild to severe. The antiquity andlessons learned from hypohidrotic ectodermaldysplasia (HED) can serve as an example for investigating the root and pathogenesis of other ectodermal dysplasia syndromes by denoting that phenotypically identical syndromes can be caused by mutations in different genes, mutations in the same gene can lead to different phenotypes and that mutations in the genes further ensue in the same indicating pathway may alter the phenotype quite profoundly. This paper aims to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder.

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Ectodermal Dysplasias

Itin

2016

Rook's Textbook of Dermatology, Ninth Edition

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Ectodermal dysplasias, a large group of heterogeneous heritable conditions, are characterized by congenital defects in two or more ectodermal structures, involving at least one in the hair (trichodysplasia), teeth (dental defects), nails (onychodysplasia) or sweat glands (hypohidrosis). Of the approximately 220 different ectodermal dysplasias, about 80 have been identified at the molecular level with the identification of the causative genes. Recent evidence implicates genetic defects in different key pathways orchestrating ectodermal organogenesis.

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Witkop Tooth and Nail Syndrome: A Report of Three Cases in a Family

Cited by 12 publications

References 10 publications

Tooth agenesis: What do we know and is there a connection to cancer?

Tooth agenesis: What do we know and is there a connection to cancer?

Ectodermal Dysplasia: An Overview

Ectodermal Dysplasias

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