Lipoid Proteinosis

Malik, Sunita; Singh, Rajesh; Mittal, Hitesh Chander; Yadav, Sunil Kumar

doi:10.5005/jp-journals-10005-1353

Cited by 18 publications

(8 citation statements)

References 6 publications

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“…The typical and pathognomonic imaging findings in LP are seen in bilateral medial temporal lobes and amygdala. Curvilinear or comma-shaped hyperdense symmetrical calcifications are depicted in amygdala and are more notable in longer disease similar to our case (3,9).…”

supporting

confidence: 87%

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A Case Report of Lipoid Proteinosis with Brain and Laryngeal Presentation

et al. 2020

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: Lipoid proteinosis is a rare autosomal recessive genodermatosis. Genetic mutation leads to deposition of abnormal amounts of hyaline like material in the skin and viscera, which is the cause of clinical manifestations. It mostly involves the skin, intracranium, and the larynx. In this case report, we present a case with a long history of hoarseness. Imaging findings include bilateral true vocal cord (TVC) mucosal irregularity with hyperdense depositions, bilateral medial temporal amygdala parallel bean shape calcification (pathognomonic sign), and bilateral striatal (caudate and putamen) hypoattenuation. The patient also had multiple warty papules on the hands. Biopsy of the right TVC showed submucosal deposition of periodic acid-Schiff (PAS)-positive amorphous hyaline material and confirmed the diagnosis of lipoid proteinosis. Typical imaging findings especially in the brain could be very helpful in interpretation of laryngeal imaging findings in cases of lipoid proteinosis who manifest with long term voice changes and hoarseness.

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supporting

confidence: 87%

“…On magnetic resonance imaging (MRI), signal intensity of the lesions are low in T1 and T2 and are well brought out in T2* gradient echo (GRE) images. In the absence of brain calcifications, the CT or MRI features of these patients are unremarkable (3,9). Head and neck imaging manifestation of the disease has not been reported yet.…”

mentioning

confidence: 96%

A Case Report of Lipoid Proteinosis with Brain and Laryngeal Presentation

et al. 2020

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“…Clinically, patients often exhibit cutaneous and mucosal alterations, such as blistering, scarring, and beaded papules along eyelid margins, which were strikingly evident in our case. Furthermore, the disease is frequently associated with voice and speech abnormalities, as seen in our patient who displayed hoarseness of voice and impaired speech 6 …”

Section: Discussionmentioning

confidence: 50%

“…Furthermore, the disease is frequently associated with voice and speech abnormalities, as seen in our patient who displayed hoarseness of voice and impaired speech. 6 Genetically, LP is attributed to the loss of function of the mutations in the gene encoding ECM1 on the chromosomal band 1q21. These mutations lead to the aberrant deposition of hyaline material in various tissues.…”

Section: Discussionmentioning

confidence: 99%

Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report

Hashmi,

Huma,

Singireddy

et al. 2024

Clinical Case Reports

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Key Clinical MessageLipoid proteinosis (LP) is a rare autosomal recessive genodermatosis, which is characterized by the deposition of amorphous hyaline material in various tissues, including the mucosa, visceral organs, and skin. We report a case of a 11‐year‐old girl born to consanguineous parents presented with multisystemic manifestations of the disorder. The patient presented with progressive skin lesions evolving from blisters to papules, distinctive beaded papules along eyelid margins, hoarseness of voice, impaired speech, hair loss, and a painful jaw swelling. Clinical examination revealed waxy skin, atrophic scars, and keratotic plaques. Histopathology report revealed amorphous hyaline eosinophilic material deposition. This case report highlights the multisystemic manifestations of LP and the importance of early diagnosis and management.

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“…Various cutaneous manifestations include multiple atrophic scars over face, eyelid beading, keratotic plaques over elbows and knees and waxy infiltration. 1 provenance and peer review Not commissioned; externally peer reviewed.…”

Section: Descriptionmentioning

confidence: 99%