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n. genodermatosis, una condición de la piel de origen genético.
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References in periodicals archive ?
LP is a rare autosomal recessive genodermatosis characterized by the deposition of amorphous hyaline material in the skin, mucosa, and viscera.
Haim-Munk syndrome It is a rare autosomal recessive genodermatosis characterized by palmoplantar hyperkeratosis, onychogryphosis, arachnodactyly and acroosteolysis.
Familial acanthosis nigricans is a rare genodermatosis that seems to be transmitted in an autosomal dominant fashion with variable phenotypic penetrance.
Sangili, "Incontinentia pigmenti: a rare genodermatosis in a male child," Journal of Clinical and Diagnostic Research, vol.
Epidermodysplasia verruciformis (EV) (Lewandowsky-Lutz syndrome) is a genodermatosis that creates susceptibility to human papillomavirus (HPV) infection due to an abnormality in cell-mediated and humoral immunity.
Muir-Torre syndrome is a genodermatosis in which multiple sebaceous adenomas, multiple keratoakantomas, and gastrointestinal malignancies, which are not observed in Gorlin-Goltz syndrome, are observed in association.
Epidermodysplasia verruciformis (EV) is an uncommon, lifelong, autosomal recessive genodermatosis that involves the immune system (1).
Thus, clinical presentation in correlation with laboratory findings was consistent with the diagnosis of a genodermatosis with bone marrow failure-dyskeratosis congenita (DKC).
H syndrome (OMIM # 602782), first described in 2008, is a rare autosomal recessive genodermatosis which is multisystemic and is primarily characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, short stature, hyperglycemia (insulin-dependent diabetes mellitus), and hallux valgus/flexion contractures.
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis first reported by Toyama in 1929 and subsequently by Ichikawa and Hiraga in 1933 [32].
Several reports have illustrated a rare association between AI and DDD.[sup][11],[12],[13] DDD is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures.
Genodermatosis have always been a real public health problem due to a variety of mucocutaneous manifestations, as well as due to their major impact on the quality of life.