Lipoid proteinosis.
Ontology highlight
ABSTRACT:
SUBMITTER: Singh S
PROVIDER: S-EPMC5665182 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Publications
Lipoid proteinosis.
Singh Sanjay S Mittal Setu S Bhari Anju A Bhari Neetu N
BMJ case reports 20171020
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Project description: Not available
| S-EPMC10238998 | biostudies-literature
Project description: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.
| S-EPMC7964074 | biostudies-literature
Project description:Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body along with pox-like and acneiform scars. We report here a 6-year-old female child with LiP, who presented to our OPD for recurrent vesicullobullous lesions and beaded lesions over eyelid margins.
| S-EPMC3481908 | biostudies-literature
Project description:Lipoid proteinosis is a rare autosomal recessive disorder, characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Classical clinical features include skin scarring, beaded eyelid papules, and laryngeal infiltration leading to hoarseness. Moreover, the infiltrates in the tongue and its frenulum limit lingual movements and cause speech difficulties. Usually, the hoarse voice is present at birth or in early infancy, as the first manifestation. In more severe cases, diffuse infiltration of the pharynx and larynx might cause respiratory distress, at times requiring tracheostomy. The disorder has recently been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene on chromosome 1q21. The function of the protein extracellular matrix protein 1 gene is still unclear, although an important role in skin physiology and homeostasis has been hypothesized. In this report, the case is described of a 6-year-old girl with lipoid proteinosis. Histopathological examination of a laryngeal biopsy specimen showed massive deposits of eosinophilic, periodic acid Schiff-positive, and diastase resistant material in the lamina propria corroborating the clinical diagnosis of lipoid proteinosis. Molecular analyses in this patient also confirmed the clinical diagnosis. The proposita was a compound heterozygote for a new small rearrangement (543de1TG/ins15) in exon 6, and a nonsense mutation (Arg243Stop) in exon 7. Together with previously documented mutations in the extracellular matrix protein 1 gene, this study supports the hypothesis that exons 6 and 7 are the most common sites for extracellular matrix protein 1 gene mutations in lipoid proteinosis.
| S-EPMC2639960 | biostudies-literature
Project description:Lipoid proteinosis is a rare autosomal recessive disease, characterized by hyaline deposits of PAS-positive material in tissues due to mutations in the ECM1 gene. This study evaluated the ultrastructure of the skin of a 6-year-old child affected by this condition. The light microscopy identified PAS-positive hyaline deposits, which were more intense in the papillary dermis. Scanning electron microscopy of the dermis showed a compact papillary dermis and fibrillar deposits in the middle dermis. Transmission electron microscopy clearly showed the deposition of fibrillar material in the dermis, forming clusters adherent to elastic fibers, between the collagen bundles and the collagen fibers, and also filling up the cytoplasm of dermal fibroblasts.
| S-EPMC8790196 | biostudies-literature
Project description:BACKGROUND: Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families. METHODS: Clinical, neurologic, and neuro-ophthalmologic examinations; skin histopathology; brain CT and MRI; and sequencing of the fullECM1 gene. RESULTS: All seven affected individuals had skin scarring and hoarseness from early childhood. The two children in Family 1 had worse skin involvement and worse hoarseness than affected children of Families 2 and 3. Both children in Family 1 were modestly mentally retarded, and one had typical calcifications of the amygdalae on CT scan. Affected individuals in Families 2 and 3 had no grossneurologic, neurodevelopmental, or neuroimaging abnormalities. Skin histopathology was compatible with LP in all three families. Sequencing the full coding region of ECM1 gene revealed two novel mutationsin Family 1 (c.1300-1301delAA) and Family 2 (p.Cys269Tyr) and in Family 3 a previously described 1163 bp deletion starting 34 bp into intron 8. CONCLUSIONS: These individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously thought. The cause of neurologic abnormalities was not clear from either neuroimaging or from what is known about ECM1 function. The severity of dermatologic abnormalities and hoarseness generally correlated with neurologic abnormalities, with Family 1 being somewhat more affected in all spheres than the other two families. Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity.
| S-EPMC3050790 | biostudies-literature
Project description:Lipoid proteinosis is an uncommon autosomal recessive metabolic disorder that presents in early life with hoarseness and pox-like acneiform scars involving the skin and mucous membranes. Previous studies have attributed the prevalence of lipoid proteinosis to consanguineous parents. This paper reports a classical case of lipoid proteinosis with oral manifestations but without a history of consanguinity.
| S-EPMC3723256 | biostudies-literature
Project description:BackgroundLipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness of voice that develop in early childhood. LP is caused by mutation in the extracellular matrix protein 1 (ECM1) gene, which is located on 1q21.2.AimsThis study aimed to present the profile of ECM1 gene mutations and to identify possible novel mutations specific to Turkey.Materials and methodsThe ECM1 gene mutations of 19 LP patients from five families were evaluated using DNA isolated from peripheral blood samples. All ten exons in the ECM1 gene region were amplified by polymerase chain reaction (PCR). The PCR products were analyzed using a DNA sequencing analyzer. The results of DNA sequencing were analyzed with bioinformatics methods.Resultsof the 19 LP patients evaluated in our study, we detected defects in exon 6 (c.507delT, 658T>G), exon 9 (157C>T, 727C>T), and exon 10 (c.93_94delGCinsTT) of the ECM1 gene.ConclusionsOur results indicate that defects in exons 6, 9, and 10 of the ECM1 gene were responsible for LP in our country. The identification of these pathogenic mutations is valuable because it facilitates early diagnosis and genetic counseling.
| S-EPMC6862362 | biostudies-literature
Project description:Lipoid proteinosis is a rare hereditary metabolic disorder transmitted as an autosomal recessive trait. It is characterized by the deposition of an amorphous hyaline-like material (glycoprotein) in the mucous membranes, skin and various internal organs. Cryosurgery (N(2)O) was applied to remove and reshape the lip lesions in a case of this rare syndrome. The patient was a 24-year-old female. Cryosurgery (-63ºC N(2)O for one minute) was performed to re-shape some areas of the upper lip. The lips were softer and had better esthetics after treatment. The use of cryosurgery offers advantages over surgery in reshaping of the lip lesions in this syndrome, since suturing is not feasible in rigid mucosa of these patients.
| S-EPMC3532738 | biostudies-literature
Project description: Not available
| S-EPMC5126174 | biostudies-literature