Lipoid proteinosis: A case with ophthalmological and psychiatric findings

The Journal of Dermatology
Sevgi BahadirSavaş Yayli

Abstract

Lipoid proteinosis (LP) is an uncommon, recessively inherited disorder. The disease usually has its onset in the newborn period and is manifested by hoarseness. The skin and mucous membrane involvement arises between the first and second year of age. A 14-year-old male presented with the complaint of blistering on various sites of his skin, from the age of 12 months, resulting in scarring. Ophthalmological and psychiatric findings also appeared during the clinical course. The histological findings of skin biopsy included extensive deposits of amorphous eosinophilic material in the papillary dermis. No known therapy exists for LP.

References

Aug 1, 1992·Journal of the American Academy of Dermatology·K KonstantinovS Ullman
Oct 1, 1988·The British Journal of Dermatology·C K Wong, C S Lin
Dec 1, 1967·American Journal of Ophthalmology·A R Rosenthal, J R Duke
Aug 1, 1996·Acta Paediatrica·M Böhme, C F Wahlgren
Sep 10, 1998·Pediatric Neurosurgery·C C Staut, T P Naidich
Apr 12, 2000·International Journal of Dermatology·K E BozdağA Karaman
Sep 11, 2002·Pediatric Dermatology·Tamer Irfan KayaAyse Polat
Dec 11, 2002·Clinical and Experimental Dermatology·T Hamada

❮ Previous
Next ❯

Citations

Sep 28, 2014·Clinical Neurology and Neurosurgery·Wladimir Bocca Vieira de Rezende PintoOrlando Graziani Povoas Barsottini
Dec 21, 2012·Indian Journal of Dermatology, Venereology and Leprology·Nisha V ParmarUma N Saikia
Jul 31, 2007·Journal of Cataract and Refractive Surgery·Subrata MandalSatpal Garg
May 3, 2007·International Journal of Dermatology·Selim KurtogluOzgur Pirgon
Jul 17, 2012·Journal of the Neurological Sciences·Hossein Ghelichnia OmraniVajiheh Aghamollaii
Aug 29, 2009·The Neuroradiology Journal·K G SrinivasanK P Ushanandhini
Sep 25, 2012·Eye & Contact Lens·Ugur AcarNurten Unlu

❮ 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

International Journal of Dermatology
Yasser Al-Bitar, Azam Jah Samdani
Clinical and Experimental Dermatology
T Hamada
Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging
Simone AppenzellerLi Min Li
Clinical & Experimental Ophthalmology
Vidushi SharmaHarish Pathak
© 2022 Meta ULC. All rights reserved