PMID: 2504516Jul 1, 1989Paper

Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1

Clinical Genetics
N G BeratisS L Sklower

Abstract

A patient with severe deficiency of beta-galactosidase, who developed skin lesions of angiokeratoma corporis diffusum between the 3rd and 10th month of life, is described. The activity of other lysosomal enzymes, including alpha-neuraminidase, was normal. The first signs of the disease were noticed during the first month of life. By 3 months coarseness of the face and psychomotor retardation were present. In addition to angiokeratoma, he had large mongolian spots and several scattered slate-blue spots of pigmentation over his body. With the exception of the skin lesions, the other clinical signs and the course of the psychomotor deterioration were within the clinical picture of GM1 gangliosidosis, Type 1. Angiokeratoma, a manifestation of several lysosomal disorders, may appear in GM1 gangliosidosis during the first year of life.

References

Sep 1, 1979·Annals of Neurology·T MiyatakeT Yamada
May 1, 1974·The Journal of Pediatrics·C BorroneP Durand
Aug 1, 1969·The Journal of Pediatrics·J O'Brien
Jan 1, 1971·Archives of Neurology·Y SuzukiK Suzuki
Apr 28, 1972·Science·V PatelW Zeman
Feb 1, 1968·Archives of Disease in Childhood·A W JohnstonB J Warland
May 31, 1968·Science·S Okada, J S O'Brien
Feb 1, 1980·Journal of Medical Genetics·D I McCallumA W Johnston
Jun 12, 1980·Nature·A T HoogeveenH Galjaard

❮ Previous
Next ❯

Citations

Sep 6, 2000·Journal of the European Academy of Dermatology and Venereology : JEADV·D MassiM Santucci
Jun 7, 2014·Journal of Neuroscience Research·Toshio Ariga
Jan 1, 1991·American Journal of Medical Genetics·P J WillemsJ S O'Brien
Oct 11, 2020·Clinical Dysmorphology·Shivani MishraKatta Mohan Girisha
Jun 6, 2008·Molecular Genetics and Metabolism·Nicola Brunetti-Pierri, Fernando Scaglia
Mar 26, 2009·Pharmacology & Therapeutics·Raphael Schiffmann

❮ 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.