Lipoid Proteinosis

Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis. Hyalin-like material is deposited in multiple organs, including the skin, oral mucosa, larynx, and brain. Only about 300 cases have been reported in the literature so far. Occurrence of LP in siblings is also rare. The reasons for relatively large number of cases, the clinical features of the patients, and the association of LP with other clinical conditions are described in this article. The aim of this study is to show that LP is not rare in Turkey and consanguineous marriage is still a social problem. We included patients between the years of 2008-2011 with lesions resembling LP. Based on the findings of clinical and histological examination of all cases, a diagnosis of LP was made. We presented six different families with multiple family members suffered from LP. In total, we determined eight children and six adult patients. Three of eight children were from the same family (sisters), the other three children belonged to another family (brothers), two children were from another family (brother and sister), and the adult patients were from three different families. Patients with LP are likely to present first to a dermatologist because of the appearance of their skin; therefore, it is important that the dermatologic diagnosis is not to be missed. We described patients with LP and discuss the salient features of this disease.

Lipoid proteinosis (LP) is an inherited disorder characterized by the accumulation of hyaline-like material in the skin, oral cavity, and larynx. The primary symptoms include hoarseness, restricted tongue movements, and various skin lesions. LP is caused by biallelic pathogenic variants in the ECM1 gene. We studied 20 patients from nine different families with LP, 19 of whom are from Şanlıurfa in the southeastern region of Turkiye. Overall, the clinical features of the patient cohort were consistent with those mentioned in the literature, except for one exhibited an atrophoderma vermiculatum-like lesion, which is atypical for LP. The clinical exome sequencing analysis revealed three different homozygous variants in the ECM1 gene (NM_004425). While c.1246C>T p.(Arg416*) on Exon 8 and c.806G>A p.(Cys269Tyr) on Exon 7 were detected in 1 patient each, an intragenic deletion of 1163 base-pairs including Exons 9 and 10 (c.1304 + 33_*300del) was identified in 18 patients from 7 unrelated families. The haplotype analysis of the deletion variant indicated a founder effect in the families from the Şanlıurfa province of Turkiye. Based on all this information, copy number variation analysis is recommended for patients with LP. In addition to this rare observation, this study represents the largest examination of the molecular spectrum of LP patients in Turkiye, alongside the clinical spectrum.

Background: Lipoid proteinosis is a rare genodermatosis with autosomal recessive inheritance. It isa multisystem disorder characterized by progressive deposition of hyaline material in the skin, mucousmembrane and different organs of the body. The disease is presented by dermatological, laryngeal,ophthalmological, and neurological manifestations. Involvement of oral mucosa may lead to xerostomia anddysphagia; involvement of larynx and eyes results in hoarseness of voice at early infancy and moniliformblepharosis. Extracutaneous involvement includes neurological manifestations like psychosis, partialcomplex seizures, anger, panic attacks, and progressive amnesia. Till date around 300 cases have beenreported in literature.Case Report: A 63 years old male patient reported with chief complaints of pain in the right and left cheekregion, difficulty in swallowing food and dryness of mouth.Conclusion: Lipoid Proteinosis requires multidisciplinary opinion and evaluation by dermatologists,ophthalmologists, otolaryngologists, neurologists and psychiatrist. Clinical features and histopathologicalevaluation aids in the confirmation of the disease. Lipoid proteinosis should be considered one among thedifferential diagnosis when patient reports with difficulty in mouth opening, enlarged tongue, difficult inchewing and swallowing.

Expression of Basement Membrane Zone Genes Coding for Type IV Procollagen and Laminin by Human Skin Fibroblasts in Vitro: Elevated α1(IV) Collagen mRNA Levels in Lipoid Proteinosis

Lipoid proteinosis is caused by loss-of-function mutations in the glycoprotein extracellular matrix protein 1 (ECM1). We report here mutation analysis of the ECM1 gene in a Chinese family with lipoid proteinosis. A 10-year-old boy presented with a hoarse voice, acneiform scars and yellow skin nodules, as well as beaded eyelid papules and a thickened sublingual frenulum. Skin biopsy showed widespread deposition of hyaline material in the dermis and thickened basement membrane. His elder sister had the same clinical manifestations. The coding region of ECM1 was amplified and sequenced and both affected siblings were shown to have a novel homozygous single nucleotide substitution, c.658T>G, in exon 6, which converts cysteine to glycine, designated p.C220G. Both parents were heterozygous for this mutation which was not detected in 100 control chromosomes. Missense mutations in the ECM1 gene are an unusual finding in lipoid proteinosis, but this case adds to the spectrum of disease-associated mutations in this rare genodermatosis.

Lipoid proteinosis (LP) is a rare genodermatosis involving amorphous hyaline accumulation in the skin, oral mucosa, larynx, mucous membranes, and viscera. In this study, we aimed to investigate the effects of hyaline accumulation on cochlear function and hearing in LP patients. In this prospective study, 20 patients who were followed up with a diagnosis of LP between October 2016 and April 2020 in our clinic and 20 healthy individuals of the same age and gender, as a control group, were included. Pure-tone audiometry, tympanometry, and distortion-product otoacoustic emission tests of the patient and control groups were performed. The audiological results of the LP and control groups were compared statistically. In the comparison of air-conduction thresholds between groups in pure-tone audiometry, hearing thresholds in the patient group were found to be higher than the control group at frequencies of 250, 4000, 6000, and 8000Hz for the right ear, and 500 and 4000Hz for the left ear. In the comparison of signal-noise responses between groups in distortion-product otoacoustic emission (DP-OAE) test, signal-noise responses in the right and left ear at frequencies of 1000, 2000, 4000, and 6000Hz were lower in the patient group than in the control group. We found that the cochlear functions of patients with LP were affected due to the increase in hearing thresholds and decreased signal-noise responses. We think that LP patients are candidates for hearing loss in their later life.

Lipoid proteinosis is a rare genodermatosis characterized by multisystem involvement due to intracellular deposition of an amorphous hyaline material. Lipoid proteinosis is caused by mutations in the ECM1 gene. In many patients, skin and mucosa abnormalities are the first manifestation. When the CNS is affected, a wide variety of neurologic abnormalities may be present. The hallmark findings are calcifications, mostly occurring in the amygdalae, hippocampus, parahippocampal gyrus, or even the striatum. Present in half of the patients, moniliform blepharosis is considered a pathognomonic finding. In the other half of patients imaging could assist in the diagnosis. The authors present a series of 3 cases of lipoid proteinosis with brief clinical data and imaging findings.

Introduction: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is an autosomal recessive disorder characterized by the deposition of glycoproteins in mucous membranes, skin, and organs. Symptoms typically begin in childhood, persist throughout life, and encompass hoarseness, skin inflammation, scarring, and ulcers, resulting in a waxy appearance. Oral manifestations present as white plaques and ulcers, significantly impacting the oral cavity. To date, approximately 400 cases have been reported worldwide. Case Presentation: Herein, we present the case of a 36-year-old female diagnosed with LP who sought a dental implant evaluation. Her medical history revealed tooth decay, which necessitated extractions, and she had previously undergone maxillary implant placement and mandibular bone grafting. Upon general examination, the patient exhibited voice hoarseness, hyperkeratosis on the elbows and hands, and papules on the fingers. Oral examination revealed firm and fibrotic mucosa, papillomatosis, and limited mouth opening. Hyposalivation and the absence of the left parotid duct orifice were noted. No significant abnormalities were observed on the eyelids or face. Salivary gland assessment indicated a reduced flow rate (1 ml in 5 minutes). This case highlights the importance of conducting a comprehensive evaluation and tailoring management strategies to the individual needs of patients with LP. Conclusions: Lipoid proteinosis is a rare mucocutaneous disorder characterized by a slow and benign course, with varying prevalence in different regions. Early recognition of oral symptoms is crucial, as they often precede skin and neurological manifestations. Although typical oral signs usually include tongue firmness and an inability to protrude, these were not observed in the present case. Xerostomia and dental agenesis, though uncommon, have been reported in previous cases, consistent with the findings of the present case, although different areas of the oral cavity might be involved in some instances.

To assess choroidal thickness in patients with lipoid proteinosis versus healthy subjects using enhanced depth imaging optical coherence tomography. Twenty eyes of 20 patients and the same number of age and sex-matched healthy individuals were enrolled. Comprehensive ocular examinations including measurement of best-corrected visual acuity, spherical equivalent values of refractive errors, and axial length were performed. Choroidal thickness at three points (subfoveal, 500µm nasal and temporal regions) were measured automatically using MATLAB software. The mean age was 15.68 ± 5.98years in the patient group and 16.48 ± 5.69years in the control group. Mean choroidal thickness was statistically significantly thicker at each point in patients with lipoid proteinosis compared to the healthy controls: subfoveal, temporal and nasal choroidal thickness measurements were 425.65 ± 51.42, 380.20 ± 69.66, 334.05 ± 49.98µm in the study group; 346.15 ± 47.76, 330.15 ± 44.35, 298.95 ± 44.21µm in the control group, respectively (P < 0.05). Patients with lipoid proteinosis have thicker choroid compared to control eyes. Hyalin deposition and ensuing potential inflammation in the disease process may explain this finding.

Lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the skin, mucous membrane, and different organs of the body, resulting in a multitude of clinical manifestations. A 62-year-old male presented with hoarseness of voice since infancy, eyelid beading, and generalized acneiform scars on the facial skin and extremities, and yellowish papules on his tongue and buccal mucose. The patient was diagnosed clinically as a case of Lipoid proteinosis, which was confirmed by skin and mucosal biopsy. The objective of the present work is to describe this rare entity, with approximately 250 cases found in medical literature. This case report also illustrates that Lipoid proteinosis may show protean clinical features and yet may remain undiagnosed for many years. This report will hopefully spawn further studies that will lead to early diagnosis.

Introduction: Lipoid proteinosis is a rare autosomal recessive disease, characterized by deposition of Periodic Acid[FIGURE DASH]Schiff-positive hyaline material in the skin, mucous membrane of the upper aerodigestive tract, and different organs of the body, resulting in varied clinical manifestations. Case Report: We report a case of lipoid proteinosis in a 7-year-old boy who responded well to oral acitretin therapy. Discussion: Lipoid proteinosis is a rare disease entity, and very few reports have been mentioned in the literature based on its treatment modalities, with each treatment showing varied success rates. Oral acitretin can prove useful in cases of failure or inadequate response to other treatment, as seen in our case.

Objective: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of amorphous hyaline substance in the skin and mucous membranes. In this study, the histopathological findings of the patients who were admitted to our clinic and diagnosed with LP were examined. Materials and Methods: This prospective study included 18 patients who presented to our clinic between January 2014 and December 2018 and were confirmed by histopathological examination. A punch biopsy including epidermis, dermis, and subcutaneous tissues was obtained from the lesional skin of each patient evaluated clinically, and the material was stained with hematoxylin and eosin stain and periodic acid–Schiff (PAS) stain. These preparations were evaluated by a pathologist experienced in dermatopathology. Results: The most common histopathological findings in the epidermis were hyperkeratosis (88.8%) and pigmentary incontinence (83.3%) in the basal layer. The most common histopathological findings in the dermis were amorphous substance accumulation (100%), perivascular PAS positivity (33.3%), and PAS positivity around eccrine glands (11.1%). Conclusion: The findings of our study were similar to the histopathological findings of late-term skin lesions in LP patients previously described in the literature. In order to better understand the histopathological findings of skin lesions of LP patients, studies with a large number of patients including early skin lesions of LP are needed.

Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. Yellow-white plaques can be seen on oral mucosa and on the skin among depressed scars. Histological evaluation of the affected sites shows accumulation of hyaline-like material in dermis and disruption of basement membrane. Although LP is compatible with normal life expectancy, involvement of upper respiratory tract may endanger patient's life, especially in the case of a respiratory tract infection. Involvement of central nervous system has also been reported, but its clinical importance is obscure. Due to the rarity of LP, a definite therapeutical approach is not established. In this paper we describe a 21-year-old LP patient who was treated with acitretin for six months. Although the outcome with cutaneous lesions was not satisfactory, her hoarseness was significantly improved.

Introduction: Lipoid proteinosis (LP), a rare autosomal recessive disorder typified by generalized thickening of the skin, mucosa, and certain viscera, is associated with pathogenic ECM1 variants. Skin lesions like beaded eyelid papules, acneiform scars, wavy, yellow papules and nodules typically appear in early childhood. Some patients may exhibit neurological abnormalities like temporal lobe or hippocampi-amygdala complex calcification, epilepsy, and neuropsychiatric abnormalities. Methods: We included 15 individuals with LP from 10 unrelated families. The study includes clinical evaluations of family history, radiological findings, histopathological examination of the skin, and genetic investigations. Results: All affected individuals exhibited skin and mucosal lesions. Among the 15 cases, five (33%) showed neurological symptoms, four (26%) presented neuropsychiatric findings, and three (20%) had diabetes mellitus. We observed characteristic intracranial calcifications in all patients with epileptic seizures. Four out of the five cases with epilepsy and intracranial calcifications also had neuropsychiatric findings. All patients with neurological and neuropsychiatric findings had a frame-shift variant, but the same frame-shift variant was not associated with these findings in other individuals. In our study, no patient with variants other than frame-shift variants exhibited neurological or neuropsychiatric findings. Adrenal calcification, which was observed in 1 patient, was not previously linked to LP. Conclusion: Our study observed diverse variations in LP cases among the Turkish population, with varying clinical presentation even among individuals with identical variations within the same family. In our series, the lack of correlation between genotype and phenotype makes providing specific genetic counseling to families challenging.

Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis having multisystem syndromic involvement of skin, upper aerodigestive tract, internal organs, and eyelids. Although the ocular manifestations are rare, it is important to identify these clinical entities for early diagnosis and improved outcomes. We, hereby, describe a case of a 17-year-old female who presented with complaints of chronic itching and discomfort of both eyelids on and off.