Dataset Information

Cryosurgery (N2O) Application to Remove Lip Lesions of Lipoid Proteinosis Syndrome: A Case Report.

ABSTRACT: 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.

SUBMITTER: Shirani AM

PROVIDER: S-EPMC3532738 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

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Publications

Cryosurgery (N2O) Application to Remove Lip Lesions of Lipoid Proteinosis Syndrome: A Case Report.

Shirani Amir Mansour AM

Journal of dental research, dental clinics, dental prospects 20080815 2

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 ...[more]

PMID: 23289062

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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.

Dataset Information

Cryosurgery (N2O) Application to Remove Lip Lesions of Lipoid Proteinosis Syndrome: A Case Report.

Publications

Cryosurgery (N2O) Application to Remove Lip Lesions of Lipoid Proteinosis Syndrome: A Case Report.

Similar Datasets

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