Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas

Pediatric Dermatology
Joao R V GontijoRudolf Happle

Abstract

Terminal osseous dysplasia is a rare, X-linked syndrome, presumptively embryonic lethal in males, which has recently been described with highly characteristic skin findings. The presence of intracytoplasmic inclusion bodies in fibroblasts has been considered an exclusive finding of infantile digital fibromatosis. This is the first report documenting digital fibromas with intracytoplasmic inclusion bodies in a classic case of terminal osseous dysplasia.

References

Sep 13, 2000·American Journal of Medical Genetics·C A BacinoI B Van den Veyver
May 10, 2003·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Brent P J LinWilliam C Berlocher
May 27, 2005·Current Opinion in Genetics & Development·Stephen P Robertson
Nov 14, 2006·Journal of the American Academy of Dermatology·Arash IzadpanahLynne M Bird
Feb 29, 2008·Pediatric Dermatology·Nicole GrenierLeslie Robinson-Bostom
Jul 6, 2010·American Journal of Human Genetics·Yu SunMartijn H Breuning
Jan 16, 2014·Hand : Official Journal of the American Association for Hand Surgery·Marisa Cabrera GonzálezAntonia González Enseñat
Jun 11, 2015·American Journal of Medical Genetics. Part a·Cody J ConnorHeather Ciliberto
Sep 30, 2016·Archives of Pathology & Laboratory Medicine·Etan Marks, Michelle Ewart

❮ Previous
Next ❯

Citations

Feb 29, 2020·Human Mutation·Emma M WadeStephen P Robertson

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Indian Journal of Dermatology
Sudarshan P GaurkarShishir P Mirgunde
Hand : Official Journal of the American Association for Hand Surgery
Marisa Cabrera GonzálezAntonia González Enseñat
Annales de dermatologie et de vénéréologie
M A Richard-LallemandJ J Bonerandi
Journal of the American Academy of Dermatology
Warren R Heymann
© 2022 Meta ULC. All rights reserved