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Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3 [PDF]
Archives of Dermatological Research, 2017 Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) is a severe rare genetic disorder caused by mutations in the gene encoding the Membrane-Bound Transcription Factor Peptidase, Site 2 (MBTPS2). Olmsted syndrome is another rare genetic disease with
Georges Nemer +2 more
exaly +2 more sources
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Journal of Cutaneous Pathology, 2001
Olmsted syndrome is an uncommon inherited disorder of keratinization that presents mutilating palmoplantar keratoderma, perioral hyperkeratosis, leukokeratosis and alopecia. We report a case of this rare syndrome diagnosed in a 48‐year‐old woman and confirms the existence of a generalized abnormality in keratin expression.
E, Fonseca +6 more
+7 more sources
Olmsted syndrome is an uncommon inherited disorder of keratinization that presents mutilating palmoplantar keratoderma, perioral hyperkeratosis, leukokeratosis and alopecia. We report a case of this rare syndrome diagnosed in a 48‐year‐old woman and confirms the existence of a generalized abnormality in keratin expression.
E, Fonseca +6 more
+7 more sources
Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats [PDF]
Journal of Dermatological Science, 2017 Background: Olmsted syndrome (OS) is a congenital dermatosis characterized by palmoplantar keratoderma and periorificial keratotic plaque. TRPV3 (transient receptor potential vanilloid subtype 3) encodes a thermosensitive Ca2+ channel and is the ...
Takeshi Yoshioka +2 more
exaly +2 more sources
Seminars in Dermatology, 1995
Nine cases of Olmsted syndrome have been reported in the world literature. In this syndrome, keratoderma usually starts during infancy on the palms and soles when the baby starts to use the feet for walking and the hands for grasping. Within weeks or months, there is progressive spread of solid, symmetrical, thick hyperkeratotic keratoderma to both ...
H O, Perry, W P, Su
openaire +2 more sources
Nine cases of Olmsted syndrome have been reported in the world literature. In this syndrome, keratoderma usually starts during infancy on the palms and soles when the baby starts to use the feet for walking and the hands for grasping. Within weeks or months, there is progressive spread of solid, symmetrical, thick hyperkeratotic keratoderma to both ...
H O, Perry, W P, Su
openaire +2 more sources
Olmsted syndrome with microtia
European Journal of Pediatric Dermatology, 2021Olmsted syndrome is a rare inherited skin disorder characterized by severe palmoplantar keratoderma associated with periorificial keratoderma. The actual report describes a case of this syndrome in a 3-year-old girl, who presents, in addition to the classic manifestations, microtia and preauricular appendage as a possible association.
Chandramohan, A., Kar, H.K.
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Advances in Neonatal Care, 2021
Background: Olmsted syndrome is a rare and complex skin disorder affecting 46 (published) infants as of 2012. The infants affected in this case were born premature at 28 weeks' gestation. Infants affected by this syndrome demonstrate numerous plaques on several specific areas of the skin.
Sara, Anderson +2 more
openaire +2 more sources
Background: Olmsted syndrome is a rare and complex skin disorder affecting 46 (published) infants as of 2012. The infants affected in this case were born premature at 28 weeks' gestation. Infants affected by this syndrome demonstrate numerous plaques on several specific areas of the skin.
Sara, Anderson +2 more
openaire +2 more sources
JAMA Dermatology
This case report describes a 6-year-old girl who presented with symmetrical massive keratotic plaques on the palms, soles, and perioral area, as well as hair loss for 4 years.
Yu-Ying, Huang, Jiu-Hong, Li
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This case report describes a 6-year-old girl who presented with symmetrical massive keratotic plaques on the palms, soles, and perioral area, as well as hair loss for 4 years.
Yu-Ying, Huang, Jiu-Hong, Li
openaire +2 more sources