Results 111 to 120 of about 1,553 (193)

Mucous-cutaneuos hyalinosis : the clinical and histocompatibility antigens study [PDF]

open access: yes, 2018
Orientador: Heron Fernando de Sousa GonzagaTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Odontologia de PiracicabaResumo: A hialinose cutâneo-mucosa (HCM) é uma dermatose autossômica recessiva rara, congênita, de aparecimento precoce
Rodrigues, Marcelo
core  

Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease). [PDF]

open access: yesAn Bras Dermatol, 2021
de Almeida HL   +3 more
europepmc   +1 more source

A case report of Lipoid Proteinosis

open access: yesMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 1999
Objective: Lipoid proteinosis is a rare, autosomal recessive disease, characterized by persistent non-inflammatory popular lesions in the skin and mucous membranes.
S Tirgar Tabari
doaj  

A rare case report of lipoid proteinosis with distichiasis and trichomegaly: An interesting entity

open access: yesClinical Dermatology Review
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by infiltration of periodic acid schiff (PAS)-positive diastase-resistant hyaline material in the skin, oral cavity, and larynx caused by a mutation in the extracellular matrix ...
H Bangaru   +5 more
doaj   +1 more source

Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis [PDF]

open access: yes, 2018
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in extracellular matrix protein 1 gene (ECM1) with common features such as hoarseness of the voice, infiltration of the skin and mucosa, and varying degrees of
Mojdeh Hamidizadeh   +4 more
core   +1 more source

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