A Novel Association of the Additional Intracranial Calcification in Lipoid Proteinosis: A Case Report

Abstract

Lipoid Proteinosis (LP) is a genetically linked, autosomally trans ferred, rare, chronic multisystem disease which is characterized by a normal lipid profile, but with abnormal deposits of lipids and proteins in the body, which slowly but steadily leads to systemic manifestations. Although it affects almost all the systems of the body, it predominantly manifests as lesions on the skin and it has characteristic intracranial calcifications. Although, the intracranial calcifications can be classified, based on their aetiopathogenesis, as agerelated and physiologic, congenital, infectious, endocrine and metabolic, vascular, and neoplastic;

Lipoid proteinozis (Urbach-Wiethe hastalığı): Nadir bir durum ve literatürün incelenmesi

“…[35,36] Neurological complications include basal ganglia calcification, usually bilaterally symmetric, which can cause seizures, subtle cognitive abnormalities and rarely spontaneous intracerebral hemorrhage. [37][38][39][40] The classical histopathologic characteristics are pastel, eosinophilic, PAS(+) and hyaline-like material deposition in papillary dermis, dermo-epidermal composition, dermal veins around eccrine sweat glands, and in mucosa and visceral organs. [5,41] Although erythropoietic protoporphyria, popular mucinosis, lepra, amyloidosis and cutaneous xanthomonas are other entities that should be considered for diagnosis of this deposition observed in skin, voice hoarseness accompanying characteristic skin changes is accepted to be pathognomonic for LP.…”

Lipoid proteinosis: A rare entity

“…The most common radiological hallmark is the presence of bean or comma shaped intracranial calcifications in the temporal lobes in the amygdala, which is more evident in the patients who have lipoid proteinosis for a long duration. [ 8 ] Patients with neurological manifestations present with a migraine, seizures, mental retardation, anxiety, depression, and panic attacks. Our patient did not have any neurological manifestations.…”

Lipoid Proteinosis: A Rare Encounter in Dental Office

“…Intracranial calcifications have been reported with epilepsy, mental dysfunction, and neuropsychiatric abnormalities [ 12 ].…”

“…Oral steroids, dimethylsuphoxide, intralesional heparin, etretinate, and penicillamine have been used in therapeutic management. Dermabrasion, chemical skin peeling, blepharoplasty, and Co 2 laser therapy have also been suggested by a few authors [ 11 , 12 ].…”

“…Even though it is a progressive disease, prognosis is good with a normal life expectancy [ 12 ]. However, patient must be habitually evaluated to evade any untoward life-threatening complication.…”